"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 796218	NM_001374736.1(DST):c.22916C>T (p.Ala7639Val)	DST (A5318V +9 more)	Single nucleotide variant (missense variant)	DST-related condition +3 more	GBenign/Likely benign
Select item 795748	NM_001374736.1(DST):c.22896T>C (p.Thr7632=)	DST	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GBenign/Likely benign
Select item 796766	NM_001374736.1(DST):c.21403-23TG[8]	DST	Microsatellite (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more	GLikely benign
Select item 522337	NM_001374736.1(DST):c.20997G>A (p.Leu6999=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GBenign/Likely benign
Select item 522338	NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)	DST (N4190S +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GConflicting classifications of pathogenicity
Select item 522339	NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly)	DST (D3393G +7 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GUncertain significance
Select item 1328083	NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr)	DST (A3299T +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1284547	NM_001374736.1(DST):c.17467G>C (p.Ala5823Pro)	DST (A3200P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284780	NM_001374736.1(DST):c.17221A>G (p.Ile5741Val)	DST (I3118V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795679	NM_001374736.1(DST):c.17108+10A>G	DST	Single nucleotide variant (intron variant)	DST-related condition +2 more	GBenign/Likely benign
Select item 522340	NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu)	DST (F2480L +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GConflicting classifications of pathogenicity
Select item 795702	NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg)	DST (K1657R +6 more)	Single nucleotide variant (missense variant)	DST-related condition +4 more	GLikely benign
Select item 654866	NM_001374736.1(DST):c.12680G>A (p.Arg4227His)	DST (R1970H +6 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 6 +3 more	GConflicting classifications of pathogenicity
Select item 796001	NM_001374736.1(DST):c.11542-8C>T	DST	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GLikely benign
Select item 357543	NM_001723.7(DST):c.7765A>G (p.Ile2589Val)	DST (I2589V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 474540	NM_001723.7(DST):c.6401C>T (p.Thr2134Met)	DST (T2134M)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 357562	NM_001723.7(DST):c.5892C>T (p.Thr1964=)	DST	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 381713	NM_001723.7(DST):c.5780A>G (p.His1927Arg)	DST (H1927R)	Single nucleotide variant (missense variant +1 more)	DST-related condition +3 more	GBenign/Likely benign
Select item 1284788	NM_001723.7(DST):c.5035A>T (p.Lys1679Ter)	DST (K1679*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 474528	NM_001723.7(DST):c.4961C>T (p.Ala1654Val)	DST (A1654V)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GLikely benign
Select item 357584	NM_001723.7(DST):c.3809A>G (p.Lys1270Arg)	DST (K1270R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 6 +2 more	GBenign/Likely benign
Select item 474512	NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn)	DST (S649N +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1146818	NM_001374736.1(DST):c.3126G>A (p.Lys1042=)	DST	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 6 +1 more	GLikely benign
Select item 474506	NM_001374736.1(DST):c.2705C>G (p.Ser902Cys)	DST (S365C +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 357616	NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)	DST (P247A +5 more)	Single nucleotide variant (missense variant)	DST-related condition +4 more	GConflicting classifications of pathogenicity
Select item 357617	NM_001374736.1(DST):c.2256A>T (p.Ser752=)	DST	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1284715	NM_001374736.1(DST):c.258A>G (p.Ala86=)	DST	Single nucleotide variant (synonymous variant)	DST-related condition +1 more	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

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Items: 29