ClinVar for MedGen (Select 815800) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954220	NM_001723.7(DST):c.4977G>A (p.Leu1659=)	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 2953939	NM_001374736.1(DST):c.2028-19C>T	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2953860	NM_001723.7(DST):c.6339G>A (p.Glu2113=)	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 2953506	NM_001374736.1(DST):c.19567-29_19570del	DST	Deletion (splice acceptor variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely pathogenic
Select item 2953362	NM_001374736.1(DST):c.13134T>C (p.Asp4378=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2953356	NM_001374736.1(DST):c.18577-2del	DST	Deletion (splice acceptor variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely pathogenic
Select item 2953153	NM_001723.7(DST):c.5136A>G (p.Leu1712=)	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 2953044	NM_001374736.1(DST):c.4771C>T (p.Gln1591Ter)	DST (Q1054* +5 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2952856	NM_001374736.1(DST):c.19012+1G>A	DST	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely pathogenic
Select item 2952749	NM_001723.7(DST):c.6786T>C (p.Arg2262=)	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 2952723	NM_001374736.1(DST):c.16086G>C (p.Glu5362Asp)	DST (E2739D +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2952494	NM_001374736.1(DST):c.4924del (p.Glu1642fs)	DST (E1609fs +5 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2952417	NM_001374736.1(DST):c.3030G>A (p.Gln1010=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +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)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2952372	NM_001723.7(DST):c.6775A>T (p.Arg2259Ter)	DST (R2259*)	Single nucleotide variant (nonsense +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2951758	NM_001723.7(DST):c.4194A>T (p.Ser1398=)	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 2951638	NM_001374736.1(DST):c.17053C>T (p.Gln5685Ter)	DST (Q5474* +6 more)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2951494	NM_001374736.1(DST):c.4710A>G (p.Ser1570=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2950804	NM_001374736.1(DST):c.2919A>G (p.Ala973=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2950470	NM_001374736.1(DST):c.4500C>G (p.Gly1500=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +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)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2949578	NM_001374736.1(DST):c.2156C>G (p.Ser719Ter)	DST (S182* +5 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2949187	NM_001723.7(DST):c.6129A>G (p.Glu2043=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +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)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2948699	NM_001374736.1(DST):c.1873-9A>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +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)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2948563	NM_001723.7(DST):c.5334C>T (p.Asp1778=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2948473	NM_001374736.1(DST):c.16287A>C (p.Leu5429=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2947857	NM_001374736.1(DST):c.20094+12A>T	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2947764	NM_001374736.1(DST):c.15242dup (p.Asn5081fs)	DST (N4870fs +6 more)	Duplication (frameshift variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2947746	NM_001723.7(DST):c.3618G>A (p.Glu1206=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +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
Select item 2945713	NM_001374736.1(DST):c.15867T>A (p.Leu5289=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2944883	NM_001374736.1(DST):c.4278_4281+1del	DST	Deletion (splice donor variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely pathogenic
Select item 2944857	NM_001374736.1(DST):c.14177T>A (p.Leu4726Ter)	DST, LOC129389544 (L2469* +6 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2944639	NM_001374736.1(DST):c.19338dup (p.Ile6447fs)	DST (I4041fs +7 more)	Duplication (frameshift variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2944328	NM_001374736.1(DST):c.21957A>G (p.Gln7319=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2944123	NM_001374736.1(DST):c.15228G>C (p.Lys5076Asn)	DST (K5076N +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2944028	NM_001374736.1(DST):c.4470C>T (p.Asp1490=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2943891	NM_001374736.1(DST):c.5008A>G (p.Thr1670Ala)	DST (T1637A +5 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2943624	NM_001374736.1(DST):c.4035C>T (p.Phe1345=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2943237	NM_001374736.1(DST):c.2808T>C (p.Tyr936=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2943179	NM_001374736.1(DST):c.4930-2944C>G	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2942801	NM_001374736.1(DST):c.12598del (p.Arg4200fs)	DST (R1903fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2942620	NM_001374736.1(DST):c.4139del (p.Asp1380fs)	DST (D1347fs +5 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2942493	NM_001374736.1(DST):c.5194_5195del (p.Leu1732fs)	DST (L1195fs +5 more)	Microsatellite (frameshift variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GPathogenic
Select item 2942125	NM_001374736.1(DST):c.3156C>A (p.His1052Gln)	DST (H1052Q +5 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2941818	NM_001374736.1(DST):c.3601C>A (p.Arg1201=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2941437	NM_001374736.1(DST):c.4475+16dup	DST	Duplication (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GBenign
Select item 2941429	NM_001374736.1(DST):c.22960-2A>C	DST	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely pathogenic
Select item 2941378	NM_001374736.1(DST):c.3995A>G (p.Asp1332Gly)	DST (D795G +5 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2941151	NM_001374736.1(DST):c.18818_18819dup (p.Arg6274fs)	DST (R4017fs +7 more)	Duplication (frameshift variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2940891	NM_001723.7(DST):c.4419A>C (p.Leu1473Phe)	DST (L1473F)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2940671	NM_001374736.1(DST):c.19273G>A (p.Glu6425Lys)	DST (E4168K +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2940636	NM_001374736.1(DST):c.2964+20T>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2940491	NM_001374736.1(DST):c.1882A>G (p.Arg628Gly)	DST (R595G +5 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2940425	NM_001374736.1(DST):c.19973C>G (p.Ser6658Ter)	DST (S4035* +7 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2940340	NM_001723.7(DST):c.5710C>G (p.His1904Asp)	DST (H1904D)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2940009	NM_001374736.1(DST):c.4282-11A>T	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2939584	NM_001374736.1(DST):c.20896G>A (p.Gly6966Arg)	DST (G4560R +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2939517	NM_001374736.1(DST):c.13357G>A (p.Asp4453Asn)	DST (D1830N +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2939386	NM_001723.7(DST):c.5559C>T (p.Ile1853=)	DST	Single nucleotide variant (intron variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2939295	NM_001374736.1(DST):c.17437T>A (p.Ser5813Thr)	DST (S3694T +5 more)	Single nucleotide variant (intron variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2939280	NM_001723.7(DST):c.3655C>T (p.Gln1219Ter)	DST (Q1219*)	Single nucleotide variant (nonsense +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2939268	NM_001374736.1(DST):c.4917G>A (p.Leu1639=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2939057	NM_001723.7(DST):c.5182del (p.Thr1727_Ile1728insTer)	DST	Deletion (intron variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2938724	NM_001374736.1(DST):c.18780+18A>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2938480	NM_001723.7(DST):c.6423G>A (p.Gly2141=)	DST	Single nucleotide variant (intron variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2938384	NM_001374736.1(DST):c.11542-12dup	DST	Duplication (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GBenign
Select item 2938263	NM_001723.7(DST):c.3498G>A (p.Glu1166=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2938223	NM_001374736.1(DST):c.22158+11T>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2938017	NM_001374736.1(DST):c.4929+3802del	DST	Deletion (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GBenign
Select item 2938011	NM_001374736.1(DST):c.3187-13A>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2937963	NM_001374736.1(DST):c.17680+10C>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2937954	NM_001723.7(DST):c.6390_6392del (p.Asn2130del)	DST (N2130del)	Deletion (inframe_deletion +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 2937883	NM_001374736.1(DST):c.1779-8T>C	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2937856	NM_001374736.1(DST):c.17779C>T (p.Gln5927Ter)	DST (Q5936* +7 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GPathogenic
Select item 2937552	NM_001723.7(DST):c.3329G>A (p.Cys1110Tyr)	DST (C1110Y)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2937139	NM_001374736.1(DST):c.15759G>A (p.Lys5253=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2937016	NM_001374736.1(DST):c.3453C>T (p.Thr1151=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2936924	NM_001374736.1(DST):c.2512T>C (p.Trp838Arg)	DST (W667R +5 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GUncertain significance
Select item 2936707	NM_001374736.1(DST):c.3702C>T (p.Ser1234=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2936250	NM_001723.7(DST):c.7413T>C (p.Val2471=)	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 2935959	NM_001374736.1(DST):c.4638+14A>G	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 2935621	NM_001723.7(DST):c.7389A>G (p.Leu2463=)	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 2935486	NM_001374736.1(DST):c.3978G>A (p.Glu1326=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2935419	NM_001723.7(DST):c.7470T>C (p.Ile2490=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 2935279	NM_001374736.1(DST):c.22447A>G (p.Ile7483Val)	DST (I5186V +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance

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