C1865885[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554592	NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)	PCDH15 (V1627A +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 587635	NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)	PCDH15 (M1606fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
Select item 553746	NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter)	PCDH15 (Q1576* +8 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 2136863	NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)	PCDH15	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2412656	NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)	PCDH15 (P1412L +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 1406208	NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)	PCDH15 (Q1391K +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 550153	NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)	PCDH15 (R1405H +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +2 more	GUncertain significance
Select item 552486	NM_001384140.1(PCDH15):c.4211+2T>G	PCDH15	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554510	NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)	PCDH15 (A1376D +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 556004	NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)	PCDH15 (T1373I +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 1076811	NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)	PCDH15 (E1297* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +2 more	GPathogenic/Likely pathogenic
Select item 370764	NM_001384140.1(PCDH15):c.3983+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557497	NM_001384140.1(PCDH15):c.3806+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 2412658	NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)	PCDH15 (N1259fs +6 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 4930	NM_001384140.1(PCDH15):c.3718-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1F	GPathogenic
Select item 553548	NM_001384140.1(PCDH15):c.3717+2dup	PCDH15	Duplication (splice donor variant)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
Select item 1073476	NM_001384140.1(PCDH15):c.3717+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1065906	NM_001384140.1(PCDH15):c.3501+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 943097	NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)	PCDH15 (M1171fs +6 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1362284	NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter)	PCDH15 (Q1074* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 228389	NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)	PCDH15 (R1120* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +3 more	GPathogenic
Select item 46464	NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)	PCDH15 (R1106* +6 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 2412659	NM_001384140.1(PCDH15):c.3232+1G>A	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1468970	NM_001384140.1(PCDH15):c.3122+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 544690	NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)	PCDH15 (R1034H +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 972291	NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)	PCDH15 (D988G +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224747	NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	PCDH15 (R991* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +2 more	GPathogenic
Select item 1011092	NM_001384140.1(PCDH15):c.2868+5G>A	PCDH15 (S958N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 370828	NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)	PCDH15 (G905fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 370242	NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	PCDH15 (R929* +6 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GPathogenic/Likely pathogenic
Select item 2412660	NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)	PCDH15 (M848fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GPathogenic
Select item 553206	NM_001384140.1(PCDH15):c.2751+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2163741	NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)	PCDH15 (S838L +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 300189	NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn)	PCDH15 (D847N +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 370469	NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)	PCDH15 (E830fs +6 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +1 more	GLikely pathogenic
Select item 371039	NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)	PCDH15 (I814fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 126521	NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)	PCDH15 (V790del +6 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 286893	NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser)	PCDH15 (N713S +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +2 more	GUncertain significance
Select item 379720	NM_001384140.1(PCDH15):c.1997+1G>A	PCDH15	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GPathogenic/Likely pathogenic
Select item 558168	NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn)	PCDH15 (D642N +5 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 2136864	NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)	PCDH15 (S585fs +5 more)	Microsatellite (intron variant +1 more)	not provided +2 more	GPathogenic
Select item 371427	NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)	PCDH15 (N622fs +5 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F +2 more	GPathogenic/Likely pathogenic
Select item 2412661	NM_001384140.1(PCDH15):c.1784+1G>T	PCDH15	Single nucleotide variant (splice donor variant)	Usher syndrome type 1F +1 more	GLikely pathogenic
Select item 371411	NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)	PCDH15 (Y579* +5 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 18429	NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)	PCDH15 (V528D +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453439	NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)	PCDH15 (P515fs +5 more)	Deletion (frameshift variant)	Usher syndrome type 1F +1 more	GPathogenic
Select item 558525	NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser)	PCDH15 (G486S +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 861253	NM_001384140.1(PCDH15):c.1441-2A>C	PCDH15	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1066564	NM_001384140.1(PCDH15):c.1440+2T>C	PCDH15	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1074170	NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)	PCDH15 (Q430fs +5 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 more	GPathogenic/Likely pathogenic
Select item 641711	NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)	PCDH15 (Y381* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2412663	NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)	PCDH15 (G329R +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 557886	NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)	PCDH15 (P292R +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 1343722	NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)	PCDH15 (T244A +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 523753	NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)	PCDH15 (R278H +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +5 more	GUncertain significance
Select item 4933	NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	PCDH15 (R245* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 23 +5 more	GPathogenic
Select item 501870	NM_001384140.1(PCDH15):c.706-3_717del	PCDH15	Deletion (splice acceptor variant)	Usher syndrome type 1F +1 more	GPathogenic/Likely pathogenic
Select item 813417	NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)	PCDH15 (Q186* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 2412664	NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)	PCDH15 (F125C +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 968368	NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)	PCDH15 (R112Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 218194	NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)	PCDH15 (R134* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F +3 more	GPathogenic/Likely pathogenic
Select item 2412665	NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)	PCDH15 (M60I +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 556109	NM_001384140.1(PCDH15):c.158-2A>T	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1F +2 more	GLikely pathogenic
Select item 450626	NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)	LOC105378311, PCDH15 (V44A +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F +2 more	GConflicting classifications of pathogenicity
Select item 932235	NM_001384140.1(PCDH15):c.92-528C>T	LOC105378311, PCDH15	Single nucleotide variant (intron variant)	Usher syndrome type 1F	GUncertain significance
Select item 4931	NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	PCDH15 (R3*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic

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Items: 66