LOC130059224[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 1380539	NC_000016.10:g.67660322_67660356del	ACD, LOC130059224	Deletion (genic upstream transcript variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 1773970	NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)	ACD, LOC130059224 (L50R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1493414	NC_000016.10:g.67660332_67660346dup	ACD, LOC130059224	Duplication (genic upstream transcript variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2824134	NM_022914.2(ACD):c.147C>T (p.Gly49=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 959520	NM_022914.2(ACD):c.139delG (p.Arg48Glyfs)	ACD, LOC130059224	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 3232644	NM_001082486.1(ACD):c.139G>A (p.Gly47Arg)	ACD, LOC130059224 (G47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624821	NM_001082486.1(ACD):c.138T>C (p.Arg46=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +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 542415	NM_022914.2(ACD):c.137delG (p.Arg46Leufs)	ACD, LOC130059224	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GConflicting classifications of pathogenicity
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 2884675	NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)	ACD, LOC130059224	Duplication (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1770578	NM_001082486.1(ACD):c.134T>C (p.Val45Ala)	ACD, LOC130059224 (V45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2886711	NM_001082486.1(ACD):c.133G>A (p.Val45Ile)	ACD, LOC130059224 (V45I)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2183959	NM_022914.2(ACD):c.133G>T (p.Val45Leu)	ACD, LOC130059224 (V45L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1770123	NM_001082486.1(ACD):c.132T>C (p.Gly44=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 1769872	NM_001082486.1(ACD):c.131G>A (p.Gly44Asp)	ACD, LOC130059224 (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 1953283	NM_022914.2(ACD):c.125C>T (p.Ala42Val)	ACD, LOC130059224 (A42V)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1503092	NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)	ACD, LOC130059224 (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)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 970916	NM_001082486.1(ACD):c.122A>C (p.Gln41Pro)	ACD, LOC130059224 (Q41P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1752624	NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)	ACD, LOC130059224 (Q41K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 1008057	NC_000016.10:g.67660358G>A	ACD, LOC130059224	Single nucleotide variant (genic upstream transcript variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1746809	NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)	ACD, LOC130059224 (A40E)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GUncertain significance
Select item 849856	NM_001082486.1(ACD):c.119C>T (p.Ala40Val)	ACD, LOC130059224 (A40V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2886258	NM_022914.2(ACD):c.118G>A (p.Ala40Thr)	ACD, LOC130059224 (A40T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1741965	NM_001082486.1(ACD):c.117T>G (p.Arg39=)	ACD, LOC130059224	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 854192	NM_022914.2(ACD):c.116G>A (p.Arg39His)	ACD, LOC130059224 (R39H)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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)	Dyskeratosis congenita, autosomal dominant 6 +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 2417979	NM_022914.2(ACD):c.109C>A (p.Arg37Ser)	ACD, LOC130059224 (R37S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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)	Dyskeratosis congenita, autosomal dominant 6 +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)	Dyskeratosis congenita, autosomal dominant 6 +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)	Dyskeratosis congenita, autosomal dominant 6 +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 2885963	NM_022914.2(ACD):c.96dup (p.Arg34Profs)	ACD, LOC130059224	Duplication (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2808325	NM_022914.2(ACD):c.101G>C (p.Arg34Pro)	ACD, LOC130059224 (R34P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 2883898	NM_022914.2(ACD):c.100C>G (p.Arg34Gly)	ACD, LOC130059224 (R34G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1719901	NM_022914.2(ACD):c.98C>A (p.Pro33His)	ACD, LOC130059224 (P33H)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1439799	NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)	ACD, LOC130059224 (P33S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +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)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 1667441	NM_001082486.1(ACD):c.96C>G (p.Gly32=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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)	Dyskeratosis congenita, autosomal dominant 6 +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)	ACD, LOC130059224 (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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	GLikely benign
Select item 3006723	NM_022914.2(ACD):c.86T>A (p.Leu29Gln)	ACD, LOC130059224 (L29Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 3232688	NM_001082486.1(ACD):c.85C>G (p.Leu29Val)	ACD, LOC130059224 (L29V)	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 3232687	NM_001082486.1(ACD):c.83G>A (p.Ser28Asn)	ACD, LOC130059224 (S28N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1045472	NC_000016.10:g.67660407_67660419dup	ACD, LOC130059224	Duplication (genic upstream transcript variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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

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