Related gene-specific medical variations for Gene (Select 667) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3026293	NM_001374736.1(DST):c.579G>T (p.Gly193=)	DST, DST-AS1	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 2944857	NM_001374736.1(DST):c.14177T>A (p.Leu4726Ter)	DST, LOC129389544 (L2469* +6 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2691667	NM_001374736.1(DST):c.503C>T (p.Ser168Phe)	DST, DST-AS1 (S168F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656680	NM_001374736.1(DST):c.528C>G (p.Thr176=)	DST, DST-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656679	NM_001374736.1(DST):c.588G>A (p.Val196=)	DST, DST-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442182	NM_001723.7(DST):c.7931G>A (p.Ser2644Asn)	DST (S2644N)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6	GUncertain significance
Select item 2442142	NM_001374736.1(DST):c.7028T>C (p.Leu2343Pro)	DST (L2132P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6	GUncertain significance
Select item 2442074	NM_001374736.1(DST):c.21481G>A (p.Val7161Ile)	DST (V4538I +7 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	GUncertain significance
Select item 2441739	NM_001374736.1(DST):c.12446G>C (p.Trp4149Ser)	DST, LOC129996656 (W1526S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	GUncertain significance
Select item 2156789	NM_001374736.1(DST):c.12438T>G (p.Phe4146Leu)	DST, LOC129996656 (F1523L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2153787	NM_001374736.1(DST):c.12430A>G (p.Thr4144Ala)	DST, LOC129996656 (T1847A +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2087830	NM_001374736.1(DST):c.12487G>T (p.Gly4163Cys)	DST, LOC129996656 (G1866C +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2019550	NM_001374736.1(DST):c.12490G>A (p.Ala4164Thr)	DST, LOC129996656 (A1541T +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1924259	NM_001374736.1(DST):c.14245A>G (p.Lys4749Glu)	DST, LOC129389544 (K4749E +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1909391	NM_001374736.1(DST):c.12350C>G (p.Thr4117Ser)	DST, LOC129996656 (T1998S +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1905440	NM_001374736.1(DST):c.14265A>G (p.Ala4755=)	DST, LOC129389544	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1760624	NM_001374736.1(DST):c.14146A>G (p.Ile4716Val)	DST, LOC129389544 (I2419V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760524	NM_001374736.1(DST):c.14125G>C (p.Gly4709Arg)	DST, LOC129389544 (G2086R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751496	NM_001374736.1(DST):c.608C>T (p.Ala203Val)	DST, DST-AS1 (A65V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1751471	NM_001374736.1(DST):c.12441G>C (p.Glu4147Asp)	DST, LOC129996656 (E1890D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1750858	NM_001374736.1(DST):c.12341A>G (p.His4114Arg)	DST, LOC129996656 (H1857R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750603	NM_001374736.1(DST):c.12295G>T (p.Glu4099Ter)	DST, LOC129996656 (E1802* +6 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1750285	NM_001374736.1(DST):c.12245C>T (p.Thr4082Ile)	DST, LOC129996656 (T1963I +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GUncertain significance
Select item 1740946	NM_001374736.1(DST):c.448A>G (p.Met150Val)	DST, DST-AS1 (M150V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1739405	NM_001374736.1(DST):c.428A>G (p.Asn143Ser)	DST, DST-AS1 (N5S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693464	NM_001374736.1(DST):c.616C>T (p.Arg206Trp)	DST, DST-AS1 (R215W +1 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6	GPathogenic
Select item 1585817	NM_001374736.1(DST):c.14193A>G (p.Glu4731=)	DST, LOC129389544	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1575742	NM_001374736.1(DST):c.12420T>C (p.Asp4140=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1562549	NM_001374736.1(DST):c.12363G>A (p.Glu4121=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1543353	NM_001374736.1(DST):c.12327G>A (p.Lys4109=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1536798	NM_001374736.1(DST):c.12333G>A (p.Leu4111=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1523730	NM_001374736.1(DST):c.12428A>C (p.Tyr4143Ser)	DST, LOC129996656 (Y4143S +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1511722	NC_000006.11:g.(?_56459785)_(56462879_?)del	DST	Deletion	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1466950	NM_001374736.1(DST):c.14252A>G (p.Gln4751Arg)	DST, LOC129389544 (Q2494R +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1436373	NM_001374736.1(DST):c.12323T>C (p.Met4108Thr)	DST, LOC129996656 (M1811T +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1423690	NM_001374736.1(DST):c.14224A>G (p.Lys4742Glu)	DST, LOC129389544 (K2119E +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 1412832	NM_001374736.1(DST):c.12244A>G (p.Thr4082Ala)	DST, LOC129996656 (T1459A +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1410472	NC_000006.11:g.(?_56340937)_(56342296_?)del	DST	Deletion	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1396363	NM_001374736.1(DST):c.14264C>G (p.Ala4755Gly)	DST, LOC129389544 (A2132G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1357632	NM_001374736.1(DST):c.12400G>A (p.Glu4134Lys)	DST, LOC129996656 (E1511K +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1322786	NM_001723.7(DST):c.3565del (p.Ala1189fs)	DST (A1189fs)	Deletion (intron variant +1 more)	not provided	GPathogenic
Select item 1322785	NM_001723.7(DST):c.6387dup (p.Asn2130Ter)	DST (N2130*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1314956	NM_001374736.1(DST):c.625+93C>T	DST, DST-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232891	NM_001374736.1(DST):c.625+120G>T	DST, DST-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1161084	NM_001374736.1(DST):c.14274T>C (p.Asp4758=)	DST, LOC129389544	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1132553	NM_001374736.1(DST):c.14130C>T (p.Leu4710=)	DST, LOC129389544	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1115964	NM_001374736.1(DST):c.12354A>T (p.Ala4118=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 1112890	NM_001374736.1(DST):c.12471T>G (p.Leu4157=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 1056651	NM_001374736.1(DST):c.14234A>G (p.Lys4745Arg)	DST, LOC129389544 (K2122R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1056016	NM_001374736.1(DST):c.14207T>C (p.Met4736Thr)	DST, LOC129389544 (M2113T +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1045691	NM_001374736.1(DST):c.12388C>T (p.His4130Tyr)	DST, LOC129996656 (H1833Y +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1045283	NM_001374736.1(DST):c.14162C>T (p.Thr4721Ile)	LOC129389544, DST (T2424I +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1042207	NM_001374736.1(DST):c.12484G>A (p.Ala4162Thr)	DST, LOC129996656 (A4162T +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1038230	NM_001374736.1(DST):c.12292C>G (p.Pro4098Ala)	DST, LOC129996656 (P4098A +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1025765	NM_001374736.1(DST):c.12322A>G (p.Met4108Val)	DST, LOC129996656 (M1485V +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 1018303	NM_001374736.1(DST):c.12256C>G (p.Gln4086Glu)	DST, LOC129996656 (Q1463E +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1013910	NM_001374736.1(DST):c.14134C>T (p.Leu4712Phe)	DST, LOC129389544 (L2089F +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1002797	NM_001374736.1(DST):c.14297T>C (p.Val4766Ala)	DST, LOC129389544 (V2143A +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 972651	NM_001374736.1(DST):c.12469C>T (p.Leu4157Phe)	DST, LOC129996656 (L1900F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 972487	NM_001374736.1(DST):c.14180A>G (p.Gln4727Arg)	DST, LOC129389544 (Q2430R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 972336	NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter)	DST, LOC129389544 (W2116* +6 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 970665	NM_001374736.1(DST):c.14181A>G (p.Gln4727=)	DST, LOC129389544	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 970484	NM_001374736.1(DST):c.14260C>G (p.Pro4754Ala)	LOC129389544, DST (P2457A +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 970020	NM_001374736.1(DST):c.14144A>G (p.Lys4715Arg)	DST, LOC129389544 (K2596R +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 969867	NM_001374736.1(DST):c.12433G>A (p.Glu4145Lys)	DST, LOC129996656 (E4154K +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GUncertain significance
Select item 969412	NM_001374736.1(DST):c.12487G>A (p.Gly4163Ser)	DST, LOC129996656 (G1540S +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 968218	NM_001374736.1(DST):c.12307A>G (p.Lys4103Glu)	DST, LOC129996656 (K1846E +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 968164	NM_001374736.1(DST):c.12388C>G (p.His4130Asp)	DST, LOC129996656 (H1833D +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 967715	NM_001374736.1(DST):c.14150C>T (p.Ala4717Val)	DST, LOC129389544 (A2094V +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 967658	NM_001374736.1(DST):c.14140G>A (p.Asp4714Asn)	DST, LOC129389544 (D4503N +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 967471	NM_001374736.1(DST):c.12488G>A (p.Gly4163Asp)	DST, LOC129996656 (G1866D +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +3 more	GUncertain significance
Select item 966505	NM_001374736.1(DST):c.14108A>G (p.His4703Arg)	DST, LOC129389544 (H4703R +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 965580	NM_001374736.1(DST):c.12473A>G (p.Glu4158Gly)	DST, LOC129996656 (E4167G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 965422	NM_001374736.1(DST):c.12390C>G (p.His4130Gln)	DST, LOC129996656 (H1833Q +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GUncertain significance
Select item 965201	NM_001374736.1(DST):c.14291C>T (p.Thr4764Ile)	DST, LOC129389544 (T2645I +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 809951	NM_001374736.1(DST):c.19238A>T (p.Glu6413Val)	DST (E3790V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796217	NM_001374736.1(DST):c.14170T>C (p.Ser4724Pro)	DST, LOC129389544 (S2427P +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GBenign
Select item 795695	NM_001374736.1(DST):c.14151G>A (p.Ala4717=)	DST, LOC129389544	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign/Likely benign
Select item 795667	NM_001374736.1(DST):c.12351T>G (p.Thr4117=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign/Likely benign
Select item 795663	NM_001374736.1(DST):c.14174A>G (p.Lys4725Arg)	DST, LOC129389544 (K2606R +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign
Select item 691344	NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter)	DST (S1375* +6 more)	Single nucleotide variant (nonsense)	Esophageal atresia +1 more	GUncertain significance
Select item 559660	NM_001374736.1(DST):c.608C>A (p.Ala203Glu)	DST, DST-AS1 (A203E +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6	GPathogenic/Likely pathogenic
Select item 444684	NM_001374736.1(DST):c.11842T>G (p.Cys3948Gly)	DST (C1325G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374484	NM_001374736.1(DST):c.18417G>T (p.Arg6139Ser)	DST (R3516S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 90