"DST-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1091770	NM_001374736.1(DST):c.23406G>A (p.Thr7802=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
Select item 796232	NM_001374736.1(DST):c.23055C>T (p.Pro7685=)	DST	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 489327	NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser)	DST (A5032S +7 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2635728	NM_001374736.1(DST):c.22985A>G (p.Tyr7662Cys)	DST (Y5015C +7 more)	Single nucleotide variant (missense variant +1 more)	DST-related disorder	GUncertain significance
Select item 965205	NM_001374736.1(DST):c.22959+3A>G	DST	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 798344	NM_001374736.1(DST):c.22932A>C (p.Pro7644=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign/Likely 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 796218	NM_001374736.1(DST):c.22916C>T (p.Ala7639Val)	DST (A5318V +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely 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 3029926	NM_001374736.1(DST):c.22485G>A (p.Arg7495=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
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 1154667	NM_001374736.1(DST):c.21885C>T (p.Thr7295=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +3 more	GLikely benign
Select item 1013292	NM_001374736.1(DST):c.21538A>G (p.Met7180Val)	DST (M4557V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1598604	NM_001374736.1(DST):c.21403-23TG[6]	DST	Microsatellite (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign/Likely benign
Select item 1167591	NM_001374736.1(DST):c.20977C>G (p.Leu6993Val)	DST (L4370V +7 more)	Single nucleotide variant (missense variant)	DST-related disorder +3 more	GBenign
Select item 795681	NM_001374736.1(DST):c.20976C>T (p.Asn6992=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +3 more	GBenign/Likely benign
Select item 809950	NM_001374736.1(DST):c.20916C>T (p.Tyr6972=)	DST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1897448	NM_001374736.1(DST):c.20758-4C>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 795680	NM_001374736.1(DST):c.20551-10T>C	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign/Likely benign
Select item 1166307	NM_001374736.1(DST):c.20541C>T (p.Asp6847=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign
Select item 522338	NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)	DST (N4190S +7 more)	Single nucleotide variant (missense variant)	DST-related disorder +3 more	GConflicting classifications of pathogenicity
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 796761	NM_001374736.1(DST):c.20346C>T (p.Asn6782=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 1166338	NM_001374736.1(DST):c.20153G>A (p.Arg6718His)	DST (R4095H +7 more)	Single nucleotide variant (missense variant)	DST-related disorder +3 more	GBenign/Likely benign
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 795662	NM_001374736.1(DST):c.19344C>A (p.Val6448=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 1098731	NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn)	DST (D3721N +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GBenign
Select item 1114170	NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn)	DST (D3629N +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
Select item 795835	NM_001374736.1(DST):c.18699C>T (p.Ala6233=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
Select item 795679	NM_001374736.1(DST):c.17108+10A>G	DST	Single nucleotide variant (intron variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 796222	NM_001374736.1(DST):c.16575G>A (p.Thr5525=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 1166308	NM_001374736.1(DST):c.16398G>A (p.Leu5466=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +3 more	GBenign
Select item 1145772	NM_001374736.1(DST):c.16377T>C (p.Leu5459=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	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 795671	NM_001374736.1(DST):c.15570G>A (p.Glu5190=)	DST	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1167592	NM_001374736.1(DST):c.15174C>T (p.Ser5058=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 1081036	NM_001374736.1(DST):c.14655A>G (p.Glu4885=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
Select item 1111323	NM_001374736.1(DST):c.14646G>A (p.Leu4882=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
Select item 489326	NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser)	DST (L1831S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1099054	NM_001374736.1(DST):c.13191G>C (p.Val4397=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
Select item 795702	NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg)	DST (K1657R +6 more)	Single nucleotide variant (missense variant)	not provided +4 more	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 795839	NM_001374736.1(DST):c.12636C>T (p.Asp4212=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign
Select item 796212	NM_001374736.1(DST):c.12618A>G (p.Lys4206=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 795667	NM_001374736.1(DST):c.12351T>G (p.Thr4117=)	DST, LOC129996656	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1412832	NM_001374736.1(DST):c.12244A>G (p.Thr4082Ala)	DST, LOC129996656 (T1459A +6 more)	Single nucleotide variant (missense variant)	DST-related disorder +2 more	GUncertain significance
Select item 1447562	NM_001374736.1(DST):c.12132T>G (p.Thr4044=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	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 1672589	NM_001374736.1(DST):c.11736T>C (p.Ala3912=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	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 1555571	NM_001374736.1(DST):c.5058+9A>G	DST	Single nucleotide variant (intron variant)	DST-related disorder +2 more	GLikely benign
Select item 569499	NM_001723.7(DST):c.7660C>T (p.Arg2554Ter)	DST (R2554*)	Single nucleotide variant (nonsense +1 more)	DST-related disorder +2 more	GUncertain significance
Select item 541474	NM_001723.7(DST):c.7578G>A (p.Gly2526=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GLikely benign
Select item 474548	NM_001723.7(DST):c.7135G>A (p.Ala2379Thr)	DST (A2379T)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GBenign/Likely benign
Select item 357556	NM_001723.7(DST):c.6582A>C (p.Ala2194=)	DST	Single nucleotide variant (synonymous variant +1 more)	DST-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 474536	NM_001723.7(DST):c.6048_6049dup (p.Ile2017fs)	DST (I2017fs)	Microsatellite (frameshift variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GUncertain significance
Select item 541475	NM_001723.7(DST):c.5808A>G (p.Glu1936=)	DST	Single nucleotide variant (synonymous variant +1 more)	DST-related disorder +2 more	GLikely benign
Select item 381713	NM_001723.7(DST):c.5780A>G (p.His1927Arg)	DST (H1927R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GBenign/Likely benign
Select item 706031	NM_001723.7(DST):c.5553A>G (p.Gln1851=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign/Likely benign
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 357566	NM_001723.7(DST):c.5153A>C (p.Lys1718Thr)	DST (K1718T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 703633	NM_001723.7(DST):c.5091C>T (p.Arg1697=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
Select item 474527	NM_001723.7(DST):c.4772A>C (p.Gln1591Pro)	DST (Q1591P)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
Select item 1596678	NM_001723.7(DST):c.4479A>T (p.Ala1493=)	DST	Single nucleotide variant (synonymous variant +1 more)	DST-related disorder +2 more	GLikely benign
Select item 357574	NM_001723.7(DST):c.4400G>A (p.Arg1467His)	DST (R1467H)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 703770	NM_001723.7(DST):c.4060C>A (p.Gln1354Lys)	DST (Q1354K)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GConflicting classifications of pathogenicity
Select item 357581	NM_001723.7(DST):c.4049C>T (p.Thr1350Met)	DST (T1350M)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GConflicting classifications of pathogenicity
Select item 474523	NM_001723.7(DST):c.3724T>C (p.Leu1242=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign
Select item 357589	NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)	DST (E1112D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 357591	NM_001374736.1(DST):c.4831-3C>A	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign/Likely benign
Select item 541488	NM_001374736.1(DST):c.4650C>T (p.Ser1550=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
Select item 357595	NM_001374736.1(DST):c.4590T>G (p.Asn1530Lys)	DST (N993K +5 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +3 more	GBenign/Likely benign
Select item 357598	NM_001374736.1(DST):c.4380G>A (p.Thr1460=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 707188	NM_001374736.1(DST):c.3318C>T (p.Ile1106=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
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 3057704	NM_001374736.1(DST):c.3033C>T (p.His1011=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 474506	NM_001374736.1(DST):c.2705C>G (p.Ser902Cys)	DST (S365C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 541486	NM_001374736.1(DST):c.2491-6C>T	DST	Single nucleotide variant (intron variant)	DST-related disorder +2 more	GBenign/Likely benign
Select item 705168	NM_001374736.1(DST):c.2490+9A>G	DST	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
Select item 357616	NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)	DST (P247A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 702109	NM_001374736.1(DST):c.2157A>G (p.Ser719=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +2 more	GLikely benign
Select item 357619	NM_001374736.1(DST):c.2042G>A (p.Arg681His)	DST (R144H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 706671	NM_001723.7(DST):c.129T>C (p.Ser43=)	DST	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
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 3048392	NM_001374736.1(DST):c.1743A>G (p.Leu581=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GBenign
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 3051292	NM_001374736.1(DST):c.688-6T>G	DST	Single nucleotide variant (intron variant)	DST-related disorder	GLikely benign
Select item 3024852	NM_001374736.1(DST):c.625+8249G>C	DST	Single nucleotide variant (5 prime UTR variant +1 more)	DST-related disorder +1 more	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 3024922	NM_001374736.1(DST):c.418-8C>A	DST, DST-AS1	Single nucleotide variant (intron variant)	DST-related disorder +1 more	GLikely benign
Select item 1284715	NM_001374736.1(DST):c.258A>G (p.Ala86=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder +1 more	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 3033992	NM_001374736.1(DST):c.150A>G (p.Lys50=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign
Select item 522341	NM_001374736.1(DST):c.60C>G (p.Phe20Leu)	DST (F20L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3051632	NM_001374736.1(DST):c.6C>T (p.Ile2=)	DST	Single nucleotide variant (synonymous variant)	DST-related disorder	GLikely benign

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Items: 96