ClinVar for Gene (Select 667) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365731	NM_001374736.1(DST):c.3935A>C (p.Glu1312Ala)	DST (E1101A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364627	NM_001723.7(DST):c.6275T>C (p.Leu2092Pro)	DST (L2092P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364446	NM_001374736.1(DST):c.13315A>G (p.Thr4439Ala)	DST (T1816A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362859	NM_001374736.1(DST):c.5692C>T (p.Gln1898Ter)	DST (Q1687* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary sensory and autonomic neuropathy type 6	GLikely pathogenic
Select item 3362103	NM_001723.7(DST):c.7842T>A (p.Tyr2614Ter)	DST (Y2614*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3359891	NM_001723.7(DST):c.4171_4172delinsAT (p.Ala1391Ile)	DST (A1391I)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3346636	NM_001723.7(DST):c.6632C>A (p.Ala2211Glu)	DST (A2211E)	Single nucleotide variant (missense variant +1 more)	DST-related disorder	GUncertain significance
Select item 3341924	NM_001374736.1(DST):c.8115A>G (p.Lys2705=)	DST	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3341603	NM_001374736.1(DST):c.6064A>G (p.Ser2022Gly)	DST (S1811G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3341524	NM_001374736.1(DST):c.7241A>G (p.Asn2414Ser)	DST (N2203S +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3338558	NM_001723.7(DST):c.3586dup (p.Tyr1196fs)	DST (Y1196fs)	Duplication (frameshift variant +1 more)	DST-related disorder	GLikely pathogenic
Select item 3337058	NM_001374736.1(DST):c.22505G>A (p.Cys7502Tyr)	DST (C4879Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257406	NM_001374736.1(DST):c.13014C>G (p.Ile4338Met)	DST (I1715M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251765	NM_001723.7(DST):c.7573A>C (p.Thr2525Pro)	DST (T2525P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3239167	NM_001374736.1(DST):c.7535T>C (p.Met2512Thr)	DST (M2301T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3086033	NM_001374736.1(DST):c.13774G>C (p.Val4592Leu)	DST (V2473L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3086031	NM_001374736.1(DST):c.4229A>C (p.Glu1410Ala)	DST (E873A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086029	NM_001374736.1(DST):c.18260T>C (p.Met6087Thr)	DST (M3790T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086027	NM_001374736.1(DST):c.1147C>T (p.Arg383Trp)	DST (R212W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3076107	NM_001374736.1(DST):c.15690T>G (p.Asn5230Lys)	DST (N2607K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068846	NM_001374736.1(DST):c.11618del (p.Arg3873fs)	DST (R1250fs +6 more)	Deletion (frameshift variant)	DST-related disorder	GPathogenic
Select item 3067692	NM_001374736.1(DST):c.16627A>T (p.Ile5543Phe)	DST (I2920F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067584	NM_001374736.1(DST):c.5403G>C (p.Gln1801His)	DST (Q1590H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065540	NM_001374736.1(DST):c.8706del (p.Ile2902fs)	DST (I2691fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary sensory and autonomic neuropathy type 6	GLikely pathogenic
Select item 3064886	NM_001374736.1(DST):c.11848C>T (p.Gln3950Ter)	DST (Q1327* +6 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6	GUncertain significance
Select item 3057704	NM_001374736.1(DST):c.3033C>T (p.His1011=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3057593	NM_001374736.1(DST):c.20419T>C (p.Leu6807=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3055609	NM_001374736.1(DST):c.16033G>C (p.Asp5345His)	DST (D2722H +6 more)	Single nucleotide variant (missense variant)	DST-related disorder	GUncertain significance
Select item 3052502	NM_001374736.1(DST):c.1779-293G>A	DST	Single nucleotide variant (5 prime UTR variant +1 more)	DST-related disorder	GLikely benign
Select item 3052493	NM_001374736.1(DST):c.2656G>C (p.Glu886Gln)	DST (E349Q +5 more)	Single nucleotide variant (missense variant)	DST-related disorder	GUncertain significance
Select item 3052483	NM_001723.7(DST):c.5379T>G (p.Ala1793=)	DST	Single nucleotide variant (synonymous variant +1 more)	DST-related disorder	GLikely benign
Select item 3052295	NM_001374736.1(DST):c.12786T>C (p.Asp4262=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3051632	NM_001374736.1(DST):c.6C>T (p.Ile2=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3051292	NM_001374736.1(DST):c.688-6T>G	DST	Single nucleotide variant (intron variant)	DST-related disorder	GLikely benign
Select item 3048879	NM_001374736.1(DST):c.1588A>G (p.Thr530Ala)	DST (T319A +4 more)	Single nucleotide variant (missense variant)	DST-related disorder	GLikely benign
Select item 3048741	NM_001374736.1(DST):c.181+9C>A	DST	Single nucleotide variant (intron variant)	DST-related disorder	GLikely benign
Select item 3048410	NM_001374736.1(DST):c.22837C>T (p.Arg7613Ter)	DST (R4966* +9 more)	Single nucleotide variant (nonsense)	DST-related disorder	GUncertain significance
Select item 3048402	NM_001374736.1(DST):c.3096A>G (p.Leu1032=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3048392	NM_001374736.1(DST):c.1743A>G (p.Leu581=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GBenign
Select item 3039522	NM_001374736.1(DST):c.19716G>A (p.Leu6572=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3034640	NM_001374736.1(DST):c.11856T>C (p.Asn3952=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3034202	NM_001374736.1(DST):c.22923G>A (p.Ala7641=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3033992	NM_001374736.1(DST):c.150A>G (p.Lys50=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3031657	NM_001374736.1(DST):c.5243A>G (p.Gln1748Arg)	DST (Q1211R +5 more)	Single nucleotide variant (missense variant)	DST-related disorder	GUncertain significance
Select item 3031021	NM_001374736.1(DST):c.22386A>G (p.Gly7462=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3030610	NM_001374736.1(DST):c.437A>G (p.Tyr146Cys)	DST, DST-AS1 (Y146C +2 more)	Single nucleotide variant (missense variant)	DST-related disorder	GLikely benign
Select item 3029926	NM_001374736.1(DST):c.22485G>A (p.Arg7495=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 3026668	NM_001374736.1(DST):c.7651G>A (p.Glu2551Lys)	DST (E2340K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026546	NM_001374736.1(DST):c.6301C>T (p.Leu2101=)	DST	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026293	NM_001374736.1(DST):c.579G>T (p.Gly193=)	DST, DST-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025540	NM_001374736.1(DST):c.9649C>T (p.His3217Tyr)	DST (H3006Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025104	NM_001374736.1(DST):c.15808A>G (p.Asn5270Asp)	DST (N2647D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025103	NM_001374736.1(DST):c.18180A>G (p.Lys6060=)	DST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024922	NM_001374736.1(DST):c.418-8C>A	DST, DST-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024852	NM_001374736.1(DST):c.625+8249G>C	DST	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3024791	NM_001374736.1(DST):c.7758T>G (p.Ser2586Arg)	DST (S2375R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2954220	NM_001723.7(DST):c.4977G>A (p.Leu1659=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2953939	NM_001374736.1(DST):c.2028-19C>T	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2953860	NM_001723.7(DST):c.6339G>A (p.Glu2113=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2953506	NM_001374736.1(DST):c.19567-29_19570del	DST	Deletion (splice acceptor variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely pathogenic
Select item 2953362	NM_001374736.1(DST):c.13134T>C (p.Asp4378=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2953356	NM_001374736.1(DST):c.18577-2del	DST	Deletion (splice acceptor variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely pathogenic
Select item 2953153	NM_001723.7(DST):c.5136A>G (p.Leu1712=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2953044	NM_001374736.1(DST):c.4771C>T (p.Gln1591Ter)	DST (Q1054* +5 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2952856	NM_001374736.1(DST):c.19012+1G>A	DST	Single nucleotide variant (splice donor variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely pathogenic
Select item 2952749	NM_001723.7(DST):c.6786T>C (p.Arg2262=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2952723	NM_001374736.1(DST):c.16086G>C (p.Glu5362Asp)	DST (E2739D +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2952494	NM_001374736.1(DST):c.4924del (p.Glu1642fs)	DST (E1609fs +5 more)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2952417	NM_001374736.1(DST):c.3030G>A (p.Gln1010=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2952410	NM_001374736.1(DST):c.2888A>G (p.Glu963Gly)	DST (E426G +5 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2952372	NM_001723.7(DST):c.6775A>T (p.Arg2259Ter)	DST (R2259*)	Single nucleotide variant (nonsense +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2951758	NM_001723.7(DST):c.4194A>T (p.Ser1398=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2951638	NM_001374736.1(DST):c.17053C>T (p.Gln5685Ter)	DST (Q5474* +6 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2951494	NM_001374736.1(DST):c.4710A>G (p.Ser1570=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2950804	NM_001374736.1(DST):c.2919A>G (p.Ala973=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2950470	NM_001374736.1(DST):c.4500C>G (p.Gly1500=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2950210	NM_001723.7(DST):c.7591A>G (p.Ile2531Val)	DST (I2531V)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2949578	NM_001374736.1(DST):c.2156C>G (p.Ser719Ter)	DST (S182* +5 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2949187	NM_001723.7(DST):c.6129A>G (p.Glu2043=)	DST	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2948921	NM_001374736.1(DST):c.16280C>G (p.Ala5427Gly)	DST (A2804G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2948699	NM_001374736.1(DST):c.1873-9A>G	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2948698	NM_001374736.1(DST):c.17335_17337del (p.Leu5779del)	DST (L3482del +5 more)	Deletion (inframe_deletion +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2948563	NM_001723.7(DST):c.5334C>T (p.Asp1778=)	DST	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2948473	NM_001374736.1(DST):c.16287A>C (p.Leu5429=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2947857	NM_001374736.1(DST):c.20094+12A>T	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2947764	NM_001374736.1(DST):c.15242dup (p.Asn5081fs)	DST (N4870fs +6 more)	Duplication (frameshift variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2947746	NM_001723.7(DST):c.3618G>A (p.Glu1206=)	DST	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2947164	NM_001723.7(DST):c.6993C>T (p.Leu2331=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2947158	NM_001723.7(DST):c.7203C>T (p.Phe2401=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2947112	NM_001374736.1(DST):c.3258T>C (p.Ile1086=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2946909	NM_001374736.1(DST):c.16009C>T (p.Gln5337Ter)	DST (Q2714* +6 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2946908	NM_001723.7(DST):c.5189A>G (p.Glu1730Gly)	DST (E1730G)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2946776	NM_001723.7(DST):c.5343T>C (p.Ser1781=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2946517	NM_001374736.1(DST):c.2490+10T>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2946422	NM_001374736.1(DST):c.1779-109C>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2946301	NM_001374736.1(DST):c.4930-3494C>T	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2946290	NM_001374736.1(DST):c.4639-20T>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2945934	NM_001374736.1(DST):c.3511C>T (p.Gln1171Ter)	DST (Q1138* +5 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2945880	NM_001374736.1(DST):c.2543A>G (p.His848Arg)	DST (H677R +5 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2945729	NM_001374736.1(DST):c.16536del (p.Glu5513fs)	DST (E2890fs +6 more)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic

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