ClinVar for MedGen (Select 904824) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 575

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243536	NC_000016.9:g.(?_67692438)_(67694381_?)del	ACD	Deletion	Dyskeratosis congenita, autosomal dominant 6	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)	LOC130059224, ACD (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 +1 more	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_001082486.1(ACD):c.133G>A (p.Val45Ile)	ACD, LOC130059224 (V45I)	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 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 +1 more	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 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 2630494	NM_001082486.2(ACD):c.751C>G (p.Leu251Val)	ACD (L248V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 6 +1 more	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 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 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 2562317	NM_001082486.2(ACD):c.765C>T (p.Asp255=)	ACD	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 2562315	NM_001082486.2(ACD):c.1026G>A (p.Gln342=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 2562310	NM_001082486.2(ACD):c.626C>T (p.Ala209Val)	ACD (A206V +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2480819	NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)	ACD, LOC130059224 (R34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2428194	NM_001082486.2(ACD):c.1206+8T>C	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2421312	NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)	ACD (S340N +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2421290	NM_001082486.2(ACD):c.1040del (p.Ser347fs)	ACD (S344fs +1 more)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2420822	NM_022914.2(ACD):c.53C>T (p.Ser18Phe)	ACD, LOC130059224 (S18F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2419880	NM_001082486.2(ACD):c.-30C>T	ACD	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2419768	NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)	ACD (S371C +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	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 2417860	NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)	ACD (T75N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2416678	NM_022914.2(ACD):c.71G>A (p.Trp24Ter)	ACD, LOC130059224 (W24*)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2195811	NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)	ACD (A43G +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 2191136	NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)	ACD (G248D +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2190855	NM_001082486.2(ACD):c.585G>A (p.Leu195=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2190555	NM_001082486.2(ACD):c.645+7C>G	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2188748	NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)	ACD (M455K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2185290	NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)	ACD (P454T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	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 2180291	NM_001082486.2(ACD):c.459-4G>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2179658	NC_000016.10:g.67660263_67660288del	ACD	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2176833	NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)	ACD (P376L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2174692	NM_001082486.2(ACD):c.413+9T>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2174416	NM_001082486.2(ACD):c.336+8G>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 2173698	NM_001082486.2(ACD):c.413+1G>C	ACD	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2173013	NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)	ACD (T218I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 6