ClinVar for Gene (Select 712) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135709	NM_015991.4(C1QA):c.648G>T (p.Trp216Cys)	C1QA (W216C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135708	NM_015991.4(C1QA):c.634G>A (p.Gly212Ser)	C1QA (G212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135707	NM_015991.4(C1QA):c.597G>C (p.Gln199His)	C1QA (Q199H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135706	NM_015991.4(C1QA):c.179G>T (p.Arg60Leu)	C1QA (R60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030297	NM_015991.4(C1QA):c.195C>G (p.Gly65=)	C1QA	Single nucleotide variant (synonymous variant)	C1QA-related disorder	GLikely benign
Select item 3007000	NM_015991.4(C1QA):c.213G>A (p.Gly71=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002246	NM_015991.4(C1QA):c.711C>T (p.Ser237=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994261	NM_015991.4(C1QA):c.498G>T (p.Leu166=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991839	NM_015991.4(C1QA):c.573C>T (p.Asp191=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990569	NM_015991.4(C1QA):c.550C>A (p.Arg184=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976226	NM_015991.4(C1QA):c.141C>A (p.Leu47=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976139	NM_015991.4(C1QA):c.468C>T (p.Pro156=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971060	NM_015991.4(C1QA):c.163+17G>A	C1QA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968567	NM_015991.4(C1QA):c.653A>G (p.Glu218Gly)	C1QA (E218G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962018	NM_015991.4(C1QA):c.462T>A (p.Thr154=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957555	NM_015991.4(C1QA):c.163+16C>T	C1QA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877521	NM_015991.4(C1QA):c.444C>T (p.Ser148=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834881	NM_015991.4(C1QA):c.306_307insG (p.Lys103fs)	C1QA (K103fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2828887	NM_015991.4(C1QA):c.163+13C>T	C1QA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817135	NM_015991.4(C1QA):c.408C>T (p.Val136=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813906	NM_015991.4(C1QA):c.7G>C (p.Gly3Arg)	C1QA (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804782	NM_015991.4(C1QA):c.438C>T (p.Asn146=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777741	NM_015991.4(C1QA):c.24G>A (p.Leu8=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2555897	NM_015991.4(C1QA):c.539G>A (p.Arg180Lys)	C1QA (R180K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541997	NM_015991.4(C1QA):c.217C>G (p.Pro73Ala)	C1QA (P73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2421419	NM_015991.4(C1QA):c.577dup (p.Thr193fs)	C1QA (T193fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2421323	NM_015991.4(C1QA):c.66C>T (p.Thr22=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415754	NM_015991.4(C1QA):c.354C>T (p.Ser118=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414840	NM_015991.4(C1QA):c.639C>A (p.Asp213Glu)	C1QA (D213E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2351600	NM_015991.4(C1QA):c.541G>C (p.Gly181Arg)	C1QA (G181R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336598	NM_015991.4(C1QA):c.494T>C (p.Val165Ala)	C1QA (V165A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202727	NM_015991.4(C1QA):c.91G>A (p.Gly31Arg)	C1QA (G31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188158	NM_015991.4(C1QA):c.264C>T (p.Ser88=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176737	NM_015991.4(C1QA):c.14G>A (p.Arg5Gln)	C1QA (R5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111164	NM_015991.4(C1QA):c.373C>G (p.Pro125Ala)	C1QA (P125A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100530	NM_015991.4(C1QA):c.588G>T (p.Gly196=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095417	NM_015991.4(C1QA):c.39G>A (p.Leu13=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076702	NM_015991.4(C1QA):c.533C>T (p.Ser178Phe)	C1QA (S178F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2048112	NM_015991.4(C1QA):c.164-9T>C	C1QA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033011	NM_015991.4(C1QA):c.396C>T (p.Ile132=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025923	NM_015991.4(C1QA):c.129del (p.Arg44fs)	C1QA (R44fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2010815	NM_015991.4(C1QA):c.250T>C (p.Tyr84His)	C1QA (Y84H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007479	NM_015991.4(C1QA):c.225C>A (p.Pro75=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006940	NM_015991.4(C1QA):c.234C>T (p.Asn78=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998865	NM_015991.4(C1QA):c.475T>C (p.Tyr159His)	C1QA (Y159H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992633	NM_015991.4(C1QA):c.400G>A (p.Asp134Asn)	C1QA (D134N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991738	NM_015991.4(C1QA):c.120C>A (p.Gly40=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985830	NM_015991.4(C1QA):c.79C>G (p.Arg27Gly)	C1QA (R27G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970088	NM_015991.4(C1QA):c.163+16C>G	C1QA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969587	NM_015991.4(C1QA):c.209del (p.Gln70fs)	C1QA (Q70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1967999	NM_015991.4(C1QA):c.684G>A (p.Gln228=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966649	NM_015991.4(C1QA):c.185G>T (p.Gly62Val)	C1QA (G62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965750	NM_015991.4(C1QA):c.610G>A (p.Gly204Ser)	C1QA (G204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945855	NM_015991.4(C1QA):c.164-15C>T	C1QA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1934381	NM_015991.4(C1QA):c.434A>G (p.Gln145Arg)	C1QA (Q145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932393	NM_015991.4(C1QA):c.163+6C>T	C1QA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1928813	NM_015991.4(C1QA):c.582C>A (p.Asn194Lys)	C1QA (N194K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928534	NM_015991.4(C1QA):c.405G>A (p.Thr135=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920272	NM_015991.4(C1QA):c.658G>A (p.Asp220Asn)	C1QA (D220N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917696	NM_015991.4(C1QA):c.116C>T (p.Pro39Leu)	C1QA (P39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897734	NM_015991.4(C1QA):c.169C>T (p.Pro57Ser)	C1QA (P57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714133	NM_015991.4(C1QA):c.326T>A (p.Ile109Asn)	C1QA (I109N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672170	NM_015991.4(C1QA):c.273C>T (p.Leu91=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646204	NM_015991.4(C1QA):c.90C>T (p.Asp30=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639927	NM_015991.4(C1QA):c.164-20T>C	C1QA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631364	NM_015991.4(C1QA):c.312C>A (p.Gly104=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617755	NM_015991.4(C1QA):c.660C>T (p.Asp220=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612968	NM_015991.4(C1QA):c.324C>T (p.Asn108=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589410	NM_015991.4(C1QA):c.633G>A (p.Gln211=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577794	NM_015991.4(C1QA):c.27G>A (p.Val9=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571332	NM_015991.4(C1QA):c.330G>A (p.Lys110=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571316	NM_015991.4(C1QA):c.495G>A (p.Val165=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561486	NM_015991.4(C1QA):c.309G>A (p.Lys103=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543602	NM_015991.4(C1QA):c.570T>C (p.Cys190=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524025	NM_015991.4(C1QA):c.673C>A (p.His225Asn)	C1QA (H225N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521796	NM_015991.4(C1QA):c.244G>T (p.Val82Leu)	C1QA (V82L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521419	NM_015991.4(C1QA):c.668A>G (p.Lys223Arg)	C1QA (K223R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512071	NM_015991.4(C1QA):c.545A>T (p.Gln182Leu)	C1QA (Q182L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510667	NM_015991.4(C1QA):c.295A>C (p.Ile99Leu)	C1QA (I99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509560	NM_015991.4(C1QA):c.724T>C (p.Phe242Leu)	C1QA (F242L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508434	NM_015991.4(C1QA):c.218C>T (p.Pro73Leu)	C1QA (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501139	NM_015991.4(C1QA):c.582C>G (p.Asn194Lys)	C1QA (N194K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500011	NM_015991.4(C1QA):c.378G>T (p.Met126Ile)	C1QA (M126I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1497903	NM_015991.4(C1QA):c.47C>T (p.Ser16Leu)	C1QA (S16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490492	NM_015991.4(C1QA):c.16G>A (p.Gly6Arg)	C1QA (G6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490182	NM_015991.4(C1QA):c.216A>C (p.Glu72Asp)	C1QA (E72D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489296	NM_015991.4(C1QA):c.497T>C (p.Leu166Pro)	C1QA (L166P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486365	NM_015991.4(C1QA):c.655A>G (p.Lys219Glu)	C1QA (K219E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481951	NM_015991.4(C1QA):c.598G>C (p.Val200Leu)	C1QA (V200L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468526	NM_015991.4(C1QA):c.11C>G (p.Pro4Arg)	C1QA (P4R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1462083	NM_015991.4(C1QA):c.253C>G (p.Pro85Ala)	C1QA (P85A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1461552	NM_015991.4(C1QA):c.593T>G (p.Phe198Cys)	C1QA (F198C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445993	NM_015991.4(C1QA):c.291G>A (p.Pro97=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444785	NM_015991.4(C1QA):c.162G>A (p.Pro54=)	C1QA	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1441695	NM_015991.4(C1QA):c.80G>A (p.Arg27Gln)	C1QA (R27Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437304	NM_015991.4(C1QA):c.303C>T (p.Gly101=)	C1QA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2