ClinVar for Gene (Select 65057) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 3026170	NM_001082486.2(ACD):c.640del (p.Ala214fs)	ACD (A211fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3019954	NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)	ACD (G183E +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 3018149	NM_001082486.2(ACD):c.903C>T (p.Ser301=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 3017963	NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)	ACD (P253R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 3007133	NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)	ACD (L190Q +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 3000643	NM_001082486.2(ACD):c.494-11C>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2995231	NM_001082486.2(ACD):c.140A>G (p.His47Arg)	ACD (H44R +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2992932	NM_001082486.2(ACD):c.413+11C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2990641	NM_001082486.2(ACD):c.337-16C>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2989492	NM_001082486.2(ACD):c.459-12C>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2988237	NM_001082486.2(ACD):c.258C>T (p.Phe86=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2988052	NM_001082486.2(ACD):c.645+16T>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2987483	NM_001082486.2(ACD):c.1058A>G (p.His353Arg)	ACD (H324R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2985379	NM_001082486.2(ACD):c.1298+17G>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2982506	NM_001082486.2(ACD):c.100-15G>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2981310	NM_022914.2(ACD):c.184C>T (p.Leu62Phe)	ACD (L62F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2961767	NM_001082486.2(ACD):c.1207-18A>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2957494	NM_022914.2(ACD):c.214G>C (p.Ala72Pro)	ACD (A72P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2957236	NM_001082486.2(ACD):c.326A>T (p.Glu109Val)	ACD (E106V +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2956160	NM_001082486.2(ACD):c.646-6C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2955238	NM_001082486.2(ACD):c.100-15G>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2918645	NM_001082486.2(ACD):c.1299-19A>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2917795	NM_001082486.2(ACD):c.243-14C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2913553	NM_001082486.2(ACD):c.-31C>T	ACD	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2908008	NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)	ACD (L358F +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2907951	NM_001082486.2(ACD):c.267C>G (p.Arg89=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2905819	NM_022914.2(ACD):c.29C>G (p.Ala10Gly)	ACD (A10G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2905082	NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)	ACD (P239S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2904606	NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)	ACD (T289S +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2889924	NM_001082486.2(ACD):c.336+8G>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2887256	NM_001082486.2(ACD):c.627C>A (p.Ala209=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2887066	NM_022914.2(ACD):c.64G>C (p.Ala22Pro)	ACD, LOC130059224 (A22P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2886711	NM_022914.2(ACD):c.133G>A (p.Val45Ile)	ACD, LOC130059224 (V45I)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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 2886236	NM_001082486.2(ACD):c.493+10A>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	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 2884675	NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)	ACD, LOC130059224	Duplication (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2884154	NM_001082486.2(ACD):c.1206+10G>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2884008	NM_001082486.2(ACD):c.459-4G>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2883930	NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)	ACD (P267del +1 more)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita, autosomal dominant 6	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 2870894	NM_001082486.2(ACD):c.493+19A>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2869777	NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)	ACD (P321L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2866696	NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)	ACD (G382D +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2857897	NM_001082486.2(ACD):c.192C>T (p.Thr64=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2853097	NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)	ACD (P203A +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2841272	NM_001082486.2(ACD):c.504G>C (p.Leu168=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
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 2823870	NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)	ACD (P339fs +2 more)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2823278	NM_001082486.2(ACD):c.494-5C>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2818439	NM_001082486.2(ACD):c.496_500del (p.Leu166fs)	ACD (L163fs +1 more)	Deletion (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 2791375	NM_001082486.2(ACD):c.646-20A>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2791196	NM_001082486.2(ACD):c.-16G>C	ACD	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2786431	NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)	ACD (T333I +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2781064	NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)	ACD (A295D +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2779233	NM_001082486.2(ACD):c.513T>C (p.Leu171=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2772492	NM_001082486.2(ACD):c.307G>T (p.Val103Phe)	ACD (V103F +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2765731	NM_001082486.2(ACD):c.1359T>C (p.Ser453=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2749827	NM_001082486.2(ACD):c.645+10G>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2736368	NM_001082486.2(ACD):c.556G>A (p.Val186Met)	ACD (V186M +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2732707	NM_001082486.2(ACD):c.414-7T>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2712612	NM_001082486.2(ACD):c.743-6C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2707702	NM_001082486.2(ACD):c.1080T>C (p.Ala360=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2701452	NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)	ACD (S224R +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2691977	NM_001082486.2(ACD):c.100-29G>A	ACD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2691975	NM_001082486.2(ACD):c.459-35A>C	ACD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2691974	NM_001082486.2(ACD):c.609T>G (p.Pro203=)	ACD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2691973	NM_001082486.2(ACD):c.830-11C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 2691972	NM_001082486.2(ACD):c.1204T>G (p.Trp402Gly)	ACD (W373G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2646634	NM_001082486.2(ACD):c.228G>C (p.Leu76=)	ACD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630494	NM_001082486.2(ACD):c.751C>G (p.Leu251Val)	ACD (L248V +1 more)	Single nucleotide variant (intron variant +1 more)	ACD-related condition +1 more	GUncertain significance
Select item 2624831	NM_001082486.2(ACD):c.476C>T (p.Ser159Phe)	ACD (S156F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2624829	NM_001082486.2(ACD):c.-9G>A	ACD	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2624828	NM_001082486.2(ACD):c.1361A>T (p.Glu454Val)	ACD (E425V +2 more)	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 2624826	NM_001082486.2(ACD):c.548G>T (p.Gly183Val)	ACD (G180V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2624824	NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)	ACD (P334S +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2624823	NM_001082486.2(ACD):c.24C>T (p.Val8=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2624822	NM_001082486.2(ACD):c.1122G>A (p.Glu374=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2603077	NM_001082486.1(ACD):c.48A>G (p.Pro16=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2603043	NM_001082486.2(ACD):c.1013G>C (p.Ser338Thr)	ACD (S309T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602997	NM_001082486.2(ACD):c.58T>C (p.Ser20Pro)	ACD (S20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602988	NM_001082486.2(ACD):c.811T>A (p.Ser271Thr)	ACD (S271T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2602970	NM_001082486.1(ACD):c.189G>C (p.Pro63=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2602910	NM_001082486.2(ACD):c.1373T>C (p.Met458Thr)	ACD (M455T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602903	NM_001082486.2(ACD):c.808C>T (p.Pro270Ser)	ACD (P270S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2586833	NM_001082486.2(ACD):c.250A>C (p.Lys84Gln)	ACD (K81Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2586832	NM_001082486.2(ACD):c.618C>T (p.His206=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2586831	NM_001082486.2(ACD):c.-13T>G	ACD	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2586830	NM_001082486.2(ACD):c.670A>C (p.Ser224Arg)	ACD (S221R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2586829	NM_001082486.2(ACD):c.1199C>T (p.Ser400Phe)	ACD (S397F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2586828	NM_001082486.2(ACD):c.1343A>C (p.Asp448Ala)	ACD (D419A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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