C0745103[trait identifier] AND "ClinGen Familial Hypercholesterolemia - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430740	NM_000527.4(LDLR):c.-286C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 237861	NM_000527.5(LDLR):c.-188C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250942	NM_000527.4(LDLR):c.-156C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250946	NM_000527.4(LDLR):c.-149C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 430742	NM_000527.4(LDLR):c.-142C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 403628	NM_000527.4(LDLR):c.-140C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250949	NM_000527.4(LDLR):c.-140C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250952	NM_000527.4(LDLR):c.-138T>C	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250954	NM_000527.4(LDLR):c.-136C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226299	NM_000527.4(LDLR):c.-120C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250957	NM_000527.4(LDLR):c.-101T>C	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 430743	NM_000527.4(LDLR):c.-97G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250968	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	LDLR, LDLR-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 250967	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	LDLR, LDLR-AS1 (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250966	NM_000527.5(LDLR):c.1A>C (p.Met1Leu)	LDLR, LDLR-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 441174	NM_000527.5(LDLR):c.2T>C (p.Met1Thr)	LDLR, LDLR-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 440536	NM_000527.5(LDLR):c.3G>A (p.Met1Ile)	LDLR, LDLR-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250969	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	LDLR, LDLR-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250971	NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)	LDLR, LDLR-AS1 (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250970	NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)	LDLR, LDLR-AS1 (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250981	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR, LDLR-AS1 (L15P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250980	NM_000527.5(LDLR):c.44T>A (p.Leu15His)	LDLR-AS1, LDLR (L15H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 919564	NM_000527.5(LDLR):c.46C>G (p.Leu16Val)	LDLR, LDLR-AS1 (L16V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250982	NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)	LDLR, LDLR-AS1 (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 631358	NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)	LDLR, LDLR-AS1 (G20E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 430745	NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)	LDLR (E28K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3683	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)	LDLR (Q33*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 996231	NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr)	LDLR (D47Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 440546	NM_000527.5(LDLR):c.139G>C (p.Asp47His)	LDLR (D47H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251034	NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)	LDLR (D47N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251040	NM_000527.5(LDLR):c.169G>A (p.Asp57Asn)	LDLR (D57N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 523722	NM_000527.5(LDLR):c.170A>C (p.Asp57Ala)	LDLR (D57A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 375775	NM_000527.5(LDLR):c.185C>G (p.Thr62Arg)	LDLR (T62R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161273	NM_000527.5(LDLR):c.185C>T (p.Thr62Met)	LDLR (T62M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 225097	NM_000527.5(LDLR):c.190+4A>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 1331775	NM_000527.5(LDLR):c.226G>C (p.Gly76Arg)	LDLR (G76R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251081	NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)	LDLR (G76W)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161289	NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	LDLR (R78C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251085	NM_000527.5(LDLR):c.233G>A (p.Arg78His)	LDLR (R78H)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 923296	NM_000527.5(LDLR):c.239A>G (p.Asn80Ser)	LDLR (N80S)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251087	NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)	LDLR (N80K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251088	NM_000527.5(LDLR):c.241C>A (p.Arg81Ser)	LDLR (R81S)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 183083	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	LDLR (R81C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 924271	NM_000527.5(LDLR):c.242G>A (p.Arg81His)	LDLR (R81H)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251094	NM_000527.5(LDLR):c.250C>T (p.Pro84Ser)	LDLR (P84S)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251095	NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)	LDLR (P84R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226310	NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)	LDLR (P84L)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251097	NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 440552	NM_000527.5(LDLR):c.259T>C (p.Trp87Arg)	LDLR (W87R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3685	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR (W87G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251100	NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)	LDLR (W87*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251102	NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)	LDLR (C89R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251106	NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr)	LDLR (D90Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251105	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR (D90N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 440555	NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)	LDLR (D90A)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226313	NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)	LDLR (D90G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251107	NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)	LDLR (D90E)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161269	NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)	LDLR (S99*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251121	NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)	LDLR (D100N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251122	NM_000527.5(LDLR):c.299A>G (p.Asp100Gly)	LDLR (D100G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 440556	NM_000527.5(LDLR):c.300C>G (p.Asp100Glu)	LDLR (D100E)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161266	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	LDLR (E101K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251127	NM_000527.5(LDLR):c.305A>C (p.Gln102Pro)	LDLR (Q102P)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3736	NM_000527.4(LDLR):c.313+1G>A	LDLR (R191H)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 189296	NM_000527.5(LDLR):c.313+2T>C	LDLR	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251138	NM_000527.5(LDLR):c.313+6T>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251162	NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	LDLR (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 225402	NM_000527.5(LDLR):c.344G>A (p.Arg115His)	LDLR (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251213	NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	LDLR (E140K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251223	NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)	LDLR (T147I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 3686	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	LDLR (S177L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 430757	NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)	LDLR (C184S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 3739	NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	LDLR (C184Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251309	NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	LDLR (C197F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251340	NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)	LDLR (W214* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226329	NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	LDLR (G219del +1 more)	Microsatellite (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251356	NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)	LDLR (D221Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183092	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226332	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	LDLR (C222R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251362	NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)	LDLR (C222F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 440592	NM_000527.5(LDLR):c.666C>T (p.Cys222=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226333	NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	LDLR (E228* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251400	NM_000527.5(LDLR):c.693C>G (p.Cys231Trp)	LDLR (C231W +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251406	NM_000527.5(LDLR):c.694+25C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251421	NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)	LDLR (R237C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251422	NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)	LDLR (E240* +2 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 200920	NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	LDLR (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251425	NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)	LDLR (C243R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 440599	NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)	LDLR (S244C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 440600	NM_000527.5(LDLR):c.737G>T (p.Gly246Val)	LDLR (G246V +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251427	NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)	LDLR (G246E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161261	NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	LDLR (R253W +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 843407	NM_000527.5(LDLR):c.758G>A (p.Arg253Gln)	LDLR (R126Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251435	NM_000527.5(LDLR):c.758G>C (p.Arg253Pro)	LDLR (R253P +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251436	NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)	LDLR (Q254* +2 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 927149	NM_000527.5(LDLR):c.770G>A (p.Arg257Gln)	LDLR (R216Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 440602	NM_000527.5(LDLR):c.770G>C (p.Arg257Pro)	LDLR (R257P +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database

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