"Invitae"[submitter] AND "DSG1-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2955759	NM_001942.4(DSG1):c.1688-11T>C	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1107709	NM_001942.4(DSG1):c.1688-10C>T	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1354662	NM_001942.4(DSG1):c.1690G>A (p.Val564Ile)	DSG1, DSG1-AS1 (V564I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2994364	NM_001942.4(DSG1):c.1692C>A (p.Val564=)	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1474831	NM_001942.4(DSG1):c.1701G>T (p.Leu567Phe)	DSG1, DSG1-AS1 (L567F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1441393	NM_001942.4(DSG1):c.1714G>A (p.Asp572Asn)	DSG1, DSG1-AS1 (D572N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1652027	NM_001942.4(DSG1):c.1719T>C (p.Cys573=)	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2290233	NM_001942.4(DSG1):c.1730C>T (p.Pro577Leu)	DSG1, DSG1-AS1 (P577L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1917073	NM_001942.4(DSG1):c.1732C>T (p.Arg578Cys)	DSG1, DSG1-AS1 (R578C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2956859	NM_001942.4(DSG1):c.1733G>A (p.Arg578His)	DSG1, DSG1-AS1 (R578H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1586786	NM_001942.4(DSG1):c.1741G>A (p.Ala581Thr)	DSG1, DSG1-AS1 (A581T)	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related condition +1 more	GLikely benign
Select item 1940819	NM_001942.4(DSG1):c.1743T>A (p.Ala581=)	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1507811	NM_001942.4(DSG1):c.1762G>A (p.Glu588Lys)	DSG1, DSG1-AS1 (E588K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1426707	NM_001942.4(DSG1):c.1762G>C (p.Glu588Gln)	DSG1, DSG1-AS1 (E588Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1945216	NM_001942.4(DSG1):c.1765T>G (p.Cys589Gly)	DSG1, DSG1-AS1 (C589G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2823905	NM_001942.4(DSG1):c.1772A>G (p.Asp591Gly)	DSG1, DSG1-AS1 (D591G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2179982	NM_001942.4(DSG1):c.1777G>A (p.Ala593Thr)	DSG1, DSG1-AS1 (A593T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2063965	NM_001942.4(DSG1):c.1784A>G (p.His595Arg)	DSG1, DSG1-AS1 (H595R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 732023	NM_001942.4(DSG1):c.1803A>G (p.Gly601=)	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related condition +1 more	GLikely benign
Select item 1160990	NM_001942.4(DSG1):c.1806A>G (p.Pro602=)	DSG1-AS1, DSG1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1565862	NM_001942.4(DSG1):c.1821+10A>G	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1534610	NM_001942.4(DSG1):c.1821+11C>T	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1636973	NM_001942.4(DSG1):c.1821+18del	DSG1, DSG1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1621855	NM_001942.4(DSG1):c.1821+20A>T	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1916658	NM_001942.4(DSG1):c.1822-18T>C	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900191	NM_001942.4(DSG1):c.1822-16G>A	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2077700	NM_001942.4(DSG1):c.1829C>A (p.Thr610Asn)	DSG1, DSG1-AS1 (T610N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1532465	NM_001942.4(DSG1):c.1830C>G (p.Thr610=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	DSG1-related condition +1 more	GLikely benign
Select item 788914	NM_001942.4(DSG1):c.1839A>G (p.Ile613Met)	DSG1, DSG1-AS1 (I613M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2828290	NM_001942.4(DSG1):c.1848A>G (p.Ile616Met)	DSG1, DSG1-AS1 (I616M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175803	NM_001942.4(DSG1):c.1848A>T (p.Ile616=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433660	NM_001942.4(DSG1):c.1852C>A (p.Pro618Thr)	DSG1, DSG1-AS1 (P618T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838977	NM_001942.4(DSG1):c.1857T>C (p.Asp619=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557985	NM_001942.4(DSG1):c.1860C>T (p.Asn620=)	DSG1-AS1, DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441034	NM_001942.4(DSG1):c.1862C>G (p.Ala621Gly)	DSG1, DSG1-AS1 (A621G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418837	NM_001942.4(DSG1):c.1868T>A (p.Ile623Lys)	DSG1, DSG1-AS1 (I623K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378100	NM_001942.4(DSG1):c.1874A>G (p.Glu625Gly)	DSG1, DSG1-AS1 (E625G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720780	NM_001942.4(DSG1):c.1883A>G (p.Asp628Gly)	DSG1, DSG1-AS1 (D628G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918919	NM_001942.4(DSG1):c.1891+5G>A	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1391538	NM_001942.4(DSG1):c.1891+6A>C	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1955382	NM_001942.4(DSG1):c.1891+7A>G	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992006	NM_001942.4(DSG1):c.1891+11A>G	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1107200	NM_001942.4(DSG1):c.1892-19A>G	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1500806	NM_001942.4(DSG1):c.1892-10A>G	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2782055	NM_001942.4(DSG1):c.1895T>G (p.Val632Gly)	DSG1, DSG1-AS1 (V632G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870776	NM_001942.4(DSG1):c.1906G>C (p.Glu636Gln)	DSG1, DSG1-AS1 (E636Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719326	NM_001942.4(DSG1):c.1915G>A (p.Gly639Ser)	DSG1, DSG1-AS1 (G639S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092672	NM_001942.4(DSG1):c.1926G>A (p.Met642Ile)	DSG1, DSG1-AS1 (M642I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445224	NM_001942.4(DSG1):c.1940G>C (p.Gly647Ala)	DSG1, DSG1-AS1 (G647A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990580	NM_001942.4(DSG1):c.1942G>A (p.Gly648Arg)	DSG1, DSG1-AS1 (G648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059243	NM_001942.4(DSG1):c.1947G>A (p.Glu649=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809426	NM_001942.4(DSG1):c.1952T>C (p.Met651Thr)	DSG1, DSG1-AS1 (M651T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093168	NM_001942.4(DSG1):c.1967T>C (p.Leu656Pro)	DSG1, DSG1-AS1 (L656P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975623	NM_001942.4(DSG1):c.1968A>G (p.Leu656=)	DSG1-AS1, DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711815	NM_001942.4(DSG1):c.1977A>T (p.Gly659=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1412298	NM_001942.4(DSG1):c.1979T>A (p.Val660Asp)	DSG1, DSG1-AS1 (V660D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507016	NM_001942.4(DSG1):c.1990G>A (p.Gly664Arg)	DSG1, DSG1-AS1 (G664R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523148	NM_001942.4(DSG1):c.1991G>T (p.Gly664Val)	DSG1, DSG1-AS1 (G664V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966580	NM_001942.4(DSG1):c.1995G>A (p.Met665Ile)	DSG1, DSG1-AS1 (M665I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778771	NM_001942.4(DSG1):c.1995G>T (p.Met665Ile)	DSG1, DSG1-AS1 (M665I)	Single nucleotide variant (missense variant)	DSG1-related condition +1 more	GBenign
Select item 1477892	NM_001942.4(DSG1):c.1999G>A (p.Glu667Lys)	DSG1, DSG1-AS1 (E667K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2968602	NM_001942.4(DSG1):c.2009A>G (p.Gln670Arg)	DSG1, DSG1-AS1 (Q670R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025677	NM_001942.4(DSG1):c.2018C>G (p.Ser673Cys)	DSG1, DSG1-AS1 (S673C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954734	NM_001942.4(DSG1):c.2028A>T (p.Leu676Phe)	DSG1, DSG1-AS1 (L676F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491377	NM_001942.4(DSG1):c.2033G>T (p.Arg678Ile)	DSG1, DSG1-AS1 (R678I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481210	NM_001942.4(DSG1):c.2041A>G (p.Met681Val)	DSG1, DSG1-AS1 (M681V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716131	NM_001942.4(DSG1):c.2046G>A (p.Arg682=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817137	NM_001942.4(DSG1):c.2052T>C (p.Cys684=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2994028	NM_001942.4(DSG1):c.2055A>G (p.Arg685=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1164178	NM_001942.4(DSG1):c.2059G>A (p.Gly687Arg)	DSG1, DSG1-AS1 (G687R)	Single nucleotide variant (missense variant)	DSG1-related condition +1 more	GBenign/Likely benign
Select item 1471201	NM_001942.4(DSG1):c.2060G>A (p.Gly687Glu)	DSG1, DSG1-AS1 (G687E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740310	NM_001942.4(DSG1):c.2072T>G (p.Met691Arg)	DSG1, DSG1-AS1 (M691R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418509	NM_001942.4(DSG1):c.2087G>T (p.Ser696Ile)	DSG1, DSG1-AS1 (S696I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417390	NM_001942.4(DSG1):c.2096G>A (p.Cys699Tyr)	DSG1, DSG1-AS1 (C699Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1473855	NM_001942.4(DSG1):c.2100+5G>T	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1977841	NM_001942.4(DSG1):c.2100+8C>G	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165505	NM_001942.4(DSG1):c.2100+11T>C	DSG1, DSG1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2030254	NM_001942.4(DSG1):c.2101-20T>C	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1136607	NM_001942.4(DSG1):c.2101-16T>C	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852584	NM_001942.4(DSG1):c.2101-15C>G	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602134	NM_001942.4(DSG1):c.2101-13C>T	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1363456	NM_001942.4(DSG1):c.2108A>G (p.Tyr703Cys)	DSG1, DSG1-AS1 +1 more (Y703C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773598	NM_001942.4(DSG1):c.2115C>T (p.Tyr705=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 777286	NM_001942.4(DSG1):c.2116G>A (p.Ala706Thr)	LOC126862720, DSG1 +1 more (A706T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1378536	NM_001942.4(DSG1):c.2117C>T (p.Ala706Val)	DSG1, DSG1-AS1 +1 more (A706V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2969215	NM_001942.4(DSG1):c.2120A>G (p.Asp707Gly)	DSG1, DSG1-AS1 +1 more (D707G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 784749	NM_001942.4(DSG1):c.2121T>A (p.Asp707Glu)	DSG1, DSG1-AS1 +1 more (D707E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2191606	NM_001942.4(DSG1):c.2133_2134delinsTT (p.Arg712Cys)	DSG1, DSG1-AS1 +1 more (R712C)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 785908	NM_001942.4(DSG1):c.2134C>T (p.Arg712Cys)	DSG1, DSG1-AS1 +1 more (R712C)	Single nucleotide variant (non-coding transcript variant +1 more)	DSG1-related condition +1 more	GBenign/Likely benign
Select item 1432562	NM_001942.4(DSG1):c.2135G>A (p.Arg712His)	DSG1, DSG1-AS1 +1 more (R712H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 777287	NM_001942.4(DSG1):c.2139A>G (p.Pro713=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1506639	NM_001942.4(DSG1):c.2155C>T (p.Leu719Phe)	DSG1, DSG1-AS1 +1 more (L719F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1412781	NM_001942.4(DSG1):c.2156T>G (p.Leu719Arg)	DSG1, DSG1-AS1 +1 more (L719R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1427868	NM_001942.4(DSG1):c.2158A>G (p.Ile720Val)	DSG1, DSG1-AS1 +1 more (I720V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1596009	NM_001942.4(DSG1):c.2163T>C (p.Tyr721=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1349180	NM_001942.4(DSG1):c.2165A>G (p.Asp722Gly)	DSG1, DSG1-AS1 +1 more (D722G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2866312	NM_001942.4(DSG1):c.2167A>G (p.Ile723Val)	DSG1, DSG1-AS1 +1 more (I723V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1550104	NM_001942.4(DSG1):c.2169C>T (p.Ile723=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2891334	NM_001942.4(DSG1):c.2170G>A (p.Glu724Lys)	LOC126862720, DSG1 +1 more (E724K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3005286	NM_001942.4(DSG1):c.2180G>A (p.Gly727Asp)	DSG1, DSG1-AS1 +1 more (G727D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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