"Ambry Genetics"[submitter] AND "LOC130059224"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1774600	NM_001082486.1(ACD):c.152T>C (p.Leu51Pro)	ACD, LOC130059224 (L51P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774154	NM_001082486.1(ACD):c.150C>A (p.Leu50=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1773970	NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)	ACD, LOC130059224 (L50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2624821	NM_001082486.1(ACD):c.138T>C (p.Arg46=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1771260	NM_001082486.1(ACD):c.137G>T (p.Arg46Leu)	ACD, LOC130059224 (R46L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771257	NM_001082486.1(ACD):c.137G>A (p.Arg46His)	ACD, LOC130059224 (R46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624827	NM_001082486.1(ACD):c.136C>A (p.Arg46Ser)	ACD, LOC130059224 (R46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770779	NM_001082486.1(ACD):c.135A>G (p.Val45=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1563083	NM_001082486.1(ACD):c.135A>T (p.Val45=)	LOC130059224, ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1770578	NM_001082486.1(ACD):c.134T>C (p.Val45Ala)	LOC130059224, ACD (V45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1770123	NM_001082486.1(ACD):c.132T>C (p.Gly44=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1769872	NM_001082486.1(ACD):c.131G>A (p.Gly44Asp)	LOC130059224, ACD (G44D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1416369	NM_001082486.1(ACD):c.131G>T (p.Gly44Val)	ACD, LOC130059224 (G44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2566758	NM_001082486.1(ACD):c.129G>C (p.Arg43=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1503445	NM_001082486.1(ACD):c.128G>A (p.Arg43Gln)	ACD, LOC130059224 (R43Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1767546	NM_001082486.1(ACD):c.127C>T (p.Arg43Trp)	ACD, LOC130059224 (R43W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1767470	NM_001082486.1(ACD):c.127C>A (p.Arg43=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2586823	NM_001082486.1(ACD):c.126G>A (p.Ala42=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1503092	NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)	LOC130059224, ACD (A42E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2562323	NM_001082486.1(ACD):c.124G>C (p.Ala42Pro)	ACD, LOC130059224 (A42P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1662768	NM_001082486.1(ACD):c.123G>A (p.Gln41=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 970916	NM_001082486.1(ACD):c.122A>C (p.Gln41Pro)	ACD, LOC130059224 (Q41P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1752624	NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)	LOC130059224, ACD (Q41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1746809	NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)	ACD, LOC130059224 (A40E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 849856	NM_001082486.1(ACD):c.119C>T (p.Ala40Val)	ACD, LOC130059224 (A40V)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1741965	NM_001082486.1(ACD):c.117T>G (p.Arg39=)	LOC130059224, ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2624825	NM_001082486.1(ACD):c.116G>C (p.Arg39Pro)	ACD, LOC130059224 (R39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1739265	NM_001082486.1(ACD):c.116G>T (p.Arg39Leu)	ACD, LOC130059224 (R39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562314	NM_001082486.1(ACD):c.115C>G (p.Arg39Gly)	ACD, LOC130059224 (R39G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736307	NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)	ACD, LOC130059224 (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1730773	NM_001082486.1(ACD):c.113C>G (p.Pro38Arg)	ACD, LOC130059224 (P38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727889	NM_001082486.1(ACD):c.112C>G (p.Pro38Ala)	ACD, LOC130059224 (P38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1794811	NM_001082486.1(ACD):c.110G>A (p.Arg37His)	ACD, LOC130059224 (R37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1422105	NM_001082486.1(ACD):c.109C>T (p.Arg37Cys)	ACD, LOC130059224 (R37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1516602	NM_001082486.1(ACD):c.107G>A (p.Gly36Glu)	ACD, LOC130059224 (G36E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1000503	NM_001082486.1(ACD):c.106G>A (p.Gly36Arg)	ACD, LOC130059224 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2562312	NM_001082486.1(ACD):c.105A>C (p.Ala35=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773768	NM_001082486.1(ACD):c.103G>C (p.Ala35Pro)	ACD, LOC130059224 (A35P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1497734	NM_001082486.1(ACD):c.103G>A (p.Ala35Thr)	ACD, LOC130059224 (A35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1948085	NM_001082486.1(ACD):c.102A>G (p.Arg34=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1588629	NM_001082486.1(ACD):c.102A>C (p.Arg34=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2480819	NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)	ACD, LOC130059224 (R34L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1756032	NM_001082486.1(ACD):c.101G>A (p.Arg34Gln)	ACD, LOC130059224 (R34Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1439799	NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)	ACD, LOC130059224 (P33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2480787	NM_001082486.1(ACD):c.96C>T (p.Gly32=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1667441	NM_001082486.1(ACD):c.96C>G (p.Gly32=)	LOC130059224, ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 1587692	NM_001082486.1(ACD):c.96C>A (p.Gly32=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1767531	NM_001082486.1(ACD):c.95G>T (p.Gly32Val)	ACD, LOC130059224 (G32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 934971	NM_001082486.1(ACD):c.95G>A (p.Gly32Asp)	ACD, LOC130059224 (G32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2566762	NM_001082486.1(ACD):c.94G>A (p.Gly32Ser)	ACD, LOC130059224 (G32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1433179	NM_001082486.1(ACD):c.94G>C (p.Gly32Arg)	ACD, LOC130059224 (G32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414759	NM_001082486.1(ACD):c.94G>T (p.Gly32Cys)	LOC130059224, ACD (G32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1766812	NM_001082486.1(ACD):c.93A>T (p.Thr31=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1766810	NM_001082486.1(ACD):c.93A>G (p.Thr31=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2452450	NM_001082486.1(ACD):c.92C>T (p.Thr31Ile)	LOC130059224, ACD (T31I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1766481	NM_001082486.1(ACD):c.92C>G (p.Thr31Arg)	ACD, LOC130059224 (T31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1430293	NM_001082486.1(ACD):c.91A>G (p.Thr31Ala)	ACD, LOC130059224 (T31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1663836	NM_001082486.1(ACD):c.90C>T (p.His30=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 963474	NM_001082486.1(ACD):c.88C>T (p.His30Tyr)	ACD, LOC130059224 (H30Y)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1764726	NM_001082486.1(ACD):c.87G>C (p.Leu29=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 748805	NM_001082486.1(ACD):c.87G>A (p.Leu29=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 1764369	NM_001082486.1(ACD):c.86T>G (p.Leu29Arg)	ACD, LOC130059224 (L29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1764368	NM_001082486.1(ACD):c.86T>C (p.Leu29Pro)	ACD, LOC130059224 (L29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1582961	NM_001082486.1(ACD):c.84T>C (p.Ser28=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1762430	NM_001082486.1(ACD):c.81G>T (p.Gly27=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1762426	NM_001082486.1(ACD):c.81G>C (p.Gly27=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1762421	NM_001082486.1(ACD):c.81G>A (p.Gly27=)	LOC130059224, ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1061600	NM_001082486.1(ACD):c.80G>A (p.Gly27Glu)	ACD, LOC130059224 (G27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2624830	NM_001082486.1(ACD):c.79G>A (p.Gly27Arg)	ACD, LOC130059224 (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761111	NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)	ACD, LOC130059224 (S26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1458614	NM_001082486.1(ACD):c.78C>T (p.Ser26=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1760688	NM_001082486.1(ACD):c.77G>A (p.Ser26Asn)	LOC130059224, ACD (S26N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1047168	NM_001082486.1(ACD):c.77G>C (p.Ser26Thr)	ACD, LOC130059224 (S26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1760198	NM_001082486.1(ACD):c.76A>G (p.Ser26Gly)	ACD, LOC130059224 (S26G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1407947	NM_001082486.1(ACD):c.74C>G (p.Thr25Ser)	LOC130059224, ACD (T25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1758712	NM_001082486.1(ACD):c.73A>T (p.Thr25Ser)	ACD, LOC130059224 (T25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265009	NM_001082486.1(ACD):c.72G>T (p.Trp24Cys)	ACD, LOC130059224 (W24C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758201	NM_001082486.1(ACD):c.72G>C (p.Trp24Cys)	ACD, LOC130059224 (W24C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575071	NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)	ACD, LOC130059224 (W24S)	Inversion (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1757657	NM_001082486.1(ACD):c.71G>C (p.Trp24Ser)	ACD, LOC130059224 (W24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756579	NM_001082486.1(ACD):c.69G>C (p.Gly23=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 741364	NM_001082486.1(ACD):c.69G>A (p.Gly23=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GLikely benign
Select item 2452439	NM_001082486.1(ACD):c.68G>C (p.Gly23Ala)	ACD, LOC130059224 (G23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1336469	NM_001082486.1(ACD):c.67G>C (p.Gly23Arg)	ACD, LOC130059224 (G23R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GUncertain significance
Select item 1754984	NM_001082486.1(ACD):c.66G>A (p.Ala22=)	LOC130059224, ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1119864	NM_001082486.1(ACD):c.66G>C (p.Ala22=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1754407	NM_001082486.1(ACD):c.65C>T (p.Ala22Val)	ACD, LOC130059224 (A22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2452425	NM_001082486.1(ACD):c.63A>C (p.Pro21=)	LOC130059224, ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1752717	NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)	ACD, LOC130059224 (P21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1751581	NM_001082486.1(ACD):c.60A>C (p.Ala20=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1750965	NM_001082486.1(ACD):c.59C>T (p.Ala20Val)	LOC130059224, ACD (A20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033276	NM_001082486.1(ACD):c.58G>A (p.Ala20Thr)	ACD, LOC130059224 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2602978	NM_001082486.1(ACD):c.56G>C (p.Arg19Pro)	ACD, LOC130059224 (R19P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1749158	NM_001082486.1(ACD):c.56G>A (p.Arg19His)	ACD, LOC130059224 (R19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1748548	NM_001082486.1(ACD):c.55C>A (p.Arg19Ser)	ACD, LOC130059224 (R19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1745339	NM_001082486.1(ACD):c.50C>T (p.Ala17Val)	ACD, LOC130059224 (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603077	NM_001082486.1(ACD):c.48A>G (p.Pro16=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1398829	NM_001082486.1(ACD):c.43G>A (p.Gly15Arg)	ACD, LOC130059224 (G15R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GConflicting classifications of pathogenicity

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Items: 98