ClinVar for Gene (Select 1736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3082634	NM_001363.5(DKC1):c.257A>G (p.Tyr86Cys)	DKC1 (Y86C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3062073	NM_001363.5(DKC1):c.691G>A (p.Val231Met)	DKC1 (V231M)	Single nucleotide variant (missense variant +1 more)	Hoyeraal-Hreidarsson syndrome	GUncertain significance
Select item 3054252	NM_001363.5(DKC1):c.16+7G>A	DKC1	Single nucleotide variant (intron variant)	DKC1-related disorder	GLikely benign
Select item 3036414	NM_001363.5(DKC1):c.641-18TG[4]	DKC1	Microsatellite (intron variant)	DKC1-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 3020932	NM_001363.5(DKC1):c.772-10del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3020157	NM_001363.5(DKC1):c.16+8C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3019214	NM_001363.5(DKC1):c.816G>C (p.Leu272=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3018221	NM_001363.5(DKC1):c.1477-10T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3017896	NM_001363.5(DKC1):c.1036+19T>G	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3016872	NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)	DKC1 (R183Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3009252	NM_001363.5(DKC1):c.12G>A (p.Ala4=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3007484	NM_001363.5(DKC1):c.16+10G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3005196	NM_001363.5(DKC1):c.448+11G>A	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3004971	NM_001363.5(DKC1):c.684A>G (p.Thr228=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3002806	NM_001363.5(DKC1):c.621C>T (p.Tyr207=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3001207	NM_001363.5(DKC1):c.795T>C (p.Asp265=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2999710	NM_001363.5(DKC1):c.984G>A (p.Glu328=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2999023	NM_001363.5(DKC1):c.1171C>T (p.Leu391=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2997409	NM_001363.5(DKC1):c.1036+13G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2993632	NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)	DKC1 (I461M +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2992656	NM_001363.5(DKC1):c.778A>G (p.Met260Val)	DKC1 (M260V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2990485	NM_001363.5(DKC1):c.843C>T (p.Tyr281=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2988286	NM_001363.5(DKC1):c.264-10T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2984701	NM_001363.5(DKC1):c.1259+8C>T	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2978099	NM_001363.5(DKC1):c.189T>C (p.Asn63=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2976632	NM_001363.5(DKC1):c.16+11C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2972681	NM_001363.5(DKC1):c.219A>G (p.Ala73=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2971421	NM_001363.5(DKC1):c.475C>T (p.Leu159=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2968587	NM_001363.5(DKC1):c.709T>C (p.Leu237=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2962589	NM_001363.5(DKC1):c.498G>A (p.Gly166=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2919461	NM_001363.5(DKC1):c.1477-28_1477-18del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2918983	NM_001363.5(DKC1):c.1156-17C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2918595	NM_001363.5(DKC1):c.1233C>T (p.Thr411=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2918404	NM_001363.5(DKC1):c.579G>A (p.Gln193=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2915124	NM_001363.5(DKC1):c.1339-20A>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2913034	NM_001363.5(DKC1):c.1339-8C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2911516	NM_001363.5(DKC1):c.513+19G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2910626	NM_001363.5(DKC1):c.448+19G>T	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2909895	NM_001363.5(DKC1):c.420T>C (p.Thr140=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2908947	NM_001363.5(DKC1):c.1037-20T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2908046	NM_001363.5(DKC1):c.17-7T>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2905766	NM_001363.5(DKC1):c.42G>A (p.Lys14=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2905059	NM_001363.5(DKC1):c.263+20A>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2901835	NM_001363.5(DKC1):c.1338+18C>G	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2900830	NM_001363.5(DKC1):c.513+7_513+8del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2898677	NM_001363.5(DKC1):c.171+16C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2896346	NM_001363.5(DKC1):c.669C>T (p.Gly223=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2892887	NM_001363.5(DKC1):c.906A>G (p.Lys302=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2892568	NM_001363.5(DKC1):c.172-18_172-14del	DKC1	Microsatellite (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2888916	NM_001363.5(DKC1):c.936G>A (p.Gly312=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GBenign
Select item 2888788	NM_001363.5(DKC1):c.1531T>C (p.Leu511=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 2888617	NM_001363.5(DKC1):c.1020A>G (p.Gly340=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2887970	NM_001363.5(DKC1):c.88A>G (p.Ile30Val)	DKC1 (I30V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2887891	NM_001363.5(DKC1):c.516C>T (p.Ala172=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2886041	NM_001363.5(DKC1):c.930C>T (p.Cys310=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2884958	NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)	DKC1 (V432L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 2880008	NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)	DKC1 (T458I +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2879811	NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)	DKC1	Deletion (inframe_deletion +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2874087	NM_001363.5(DKC1):c.1156-13G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2860127	NM_001363.5(DKC1):c.17-9T>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2855202	NM_001363.5(DKC1):c.264-14T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2852099	NM_001363.5(DKC1):c.99T>C (p.Ala33=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2852064	NM_001363.5(DKC1):c.17-16G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2850533	NM_001363.5(DKC1):c.1479C>T (p.Asp493=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 2848696	NM_001363.5(DKC1):c.1194G>A (p.Leu398=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2847363	NM_001363.5(DKC1):c.513+12A>G	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2846799	NM_001363.5(DKC1):c.1260-12C>T	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2845937	NM_001363.5(DKC1):c.84+15dup	DKC1	Duplication (intron variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2841532	NM_001363.5(DKC1):c.1269C>T (p.Ala423=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 2841103	NM_001363.5(DKC1):c.771+12G>T	DKC1	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2838792	NM_001363.5(DKC1):c.1477-10_1477-9del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2837728	NM_001363.5(DKC1):c.641-19_641-18del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2835151	NM_001363.5(DKC1):c.263+7G>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2830750	NM_001363.5(DKC1):c.1473T>C (p.Asp491=)	DKC1	Single nucleotide variant (3 prime UTR variant +2 more)	Dyskeratosis congenita	GLikely benign
Select item 2828899	NM_001363.5(DKC1):c.5_7del (p.Ala2del)	DKC1 (A2del)	Deletion (inframe_deletion +2 more)	Dyskeratosis congenita	GPathogenic
Select item 2828101	NM_001363.5(DKC1):c.771+16del	DKC1	Deletion (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2826311	NM_001363.5(DKC1):c.546G>A (p.Gln182=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2821850	NM_001363.5(DKC1):c.867G>A (p.Leu289=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2820955	NM_001363.5(DKC1):c.172-12G>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2820406	NM_001363.5(DKC1):c.916-11C>T	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2810735	NM_001363.5(DKC1):c.1477-14_1477-11del	DKC1	Deletion (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2808638	NM_001363.5(DKC1):c.739C>A (p.Arg247=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2803210	NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)	DKC1 (K443T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2802492	NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)	DKC1 (P71S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2801814	NM_001363.5(DKC1):c.915+19G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2791668	NM_001363.5(DKC1):c.448+19G>C	DKC1	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2791489	NM_001363.5(DKC1):c.513+20G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2791264	NM_001363.5(DKC1):c.17-16G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2781715	NM_001363.5(DKC1):c.1368C>T (p.Asp456=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita	GBenign
Select item 2781465	NM_001363.5(DKC1):c.1477-20T>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2781139	NM_001363.5(DKC1):c.84+8del	DKC1	Deletion (intron variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2780292	NM_001363.5(DKC1):c.1188C>T (p.Gly396=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2780260	NM_001363.5(DKC1):c.897G>A (p.Leu299=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2770451	NM_001363.5(DKC1):c.999T>C (p.Ile333=)	DKC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2769379	NM_001363.5(DKC1):c.640+8A>C	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign

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