DSCAML1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	APOA1, APOA1-AS +90 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +499 more	Copy number gain	See cases	GPathogenic
Select item 3060836	NM_020693.4(DSCAML1):c.*5C>G	DSCAML1	Single nucleotide variant (3 prime UTR variant)	DSCAML1-related condition	GBenign
Select item 3037184	NM_020693.4(DSCAML1):c.*5del	DSCAML1	Deletion (3 prime UTR variant)	DSCAML1-related condition	GBenign
Select item 1910437	NM_020693.4(DSCAML1):c.6153C>G (p.Thr2051=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085904	NM_020693.4(DSCAML1):c.6145T>C (p.Ser2049Pro)	DSCAML1 (S2049P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2777313	NM_020693.4(DSCAML1):c.6140C>G (p.Ser2047Cys)	DSCAML1 (S2047C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739283	NM_020693.4(DSCAML1):c.6139T>C (p.Ser2047Pro)	DSCAML1 (S2047P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993235	NM_020693.4(DSCAML1):c.6138C>T (p.Tyr2046=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050912	NM_020693.4(DSCAML1):c.6134C>T (p.Ala2045Val)	DSCAML1 (A2045V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2416276	NM_020693.4(DSCAML1):c.6133G>A (p.Ala2045Thr)	DSCAML1 (A2045T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910211	NM_020693.4(DSCAML1):c.6133G>T (p.Ala2045Ser)	DSCAML1 (A2045S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195577	NM_020693.4(DSCAML1):c.6129C>T (p.Ala2043=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073478	NM_020693.4(DSCAML1):c.6128C>T (p.Ala2043Val)	DSCAML1 (A2043V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587898	NM_020693.4(DSCAML1):c.6127G>A (p.Ala2043Thr)	DSCAML1 (A2043T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1924635	NM_020693.4(DSCAML1):c.6126G>A (p.Gly2042=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992298	NM_020693.4(DSCAML1):c.6103G>T (p.Val2035Leu)	DSCAML1 (V2035L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952624	NM_020693.4(DSCAML1):c.6100G>A (p.Gly2034Arg)	DSCAML1 (G2034R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2167392	NM_020693.4(DSCAML1):c.6099G>A (p.Ser2033=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177011	NM_020693.4(DSCAML1):c.6085G>A (p.Glu2029Lys)	DSCAML1 (E2029K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1599828	NM_020693.4(DSCAML1):c.6084C>T (p.Leu2028=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2152498	NM_020693.4(DSCAML1):c.6078G>A (p.Ser2026=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634612	NM_020693.4(DSCAML1):c.6063G>A (p.Gly2021=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923822	NM_020693.4(DSCAML1):c.6062G>A (p.Gly2021Glu)	DSCAML1 (G2021E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183570	NM_020693.4(DSCAML1):c.6060G>A (p.Met2020Ile)	DSCAML1 (M2020I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825933	NM_020693.4(DSCAML1):c.6050A>G (p.His2017Arg)	DSCAML1 (H2017R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166152	NM_020693.4(DSCAML1):c.6044G>A (p.Gly2015Asp)	DSCAML1 (G2015D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070496	NM_020693.4(DSCAML1):c.6040G>A (p.Gly2014Arg)	DSCAML1 (G2014R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1583365	NM_020693.4(DSCAML1):c.6039C>T (p.Ala2013=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085903	NM_020693.4(DSCAML1):c.6037G>A (p.Ala2013Thr)	DSCAML1 (A2013T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189204	NM_020693.4(DSCAML1):c.6036A>G (p.Arg2012=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874469	NM_020693.4(DSCAML1):c.6035G>A (p.Arg2012Gln)	DSCAML1 (R2012Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381874	NM_020693.4(DSCAML1):c.6031C>T (p.Pro2011Ser)	DSCAML1 (P2011S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2239520	NM_020693.4(DSCAML1):c.6029C>A (p.Pro2010His)	DSCAML1 (P2010H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2082501	NM_020693.4(DSCAML1):c.6025G>A (p.Glu2009Lys)	DSCAML1 (E2009K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141019	NM_020693.4(DSCAML1):c.6024C>T (p.Thr2008=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419741	NM_020693.4(DSCAML1):c.6018C>T (p.Pro2006=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900046	NM_020693.4(DSCAML1):c.6014C>A (p.Ala2005Asp)	DSCAML1 (A2005D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448415	NM_020693.4(DSCAML1):c.6014C>T (p.Ala2005Val)	DSCAML1 (A2005V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413266	NM_020693.4(DSCAML1):c.6012G>A (p.Pro2004=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932135	NM_020693.4(DSCAML1):c.6011C>T (p.Pro2004Leu)	DSCAML1 (P2004L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571261	NM_020693.4(DSCAML1):c.6006C>T (p.Ala2002=)	DSCAML1	Single nucleotide variant (synonymous variant)	DSCAML1-related condition +1 more	GLikely benign
Select item 2085258	NM_020693.4(DSCAML1):c.6005C>T (p.Ala2002Val)	DSCAML1 (A2002V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357265	NM_020693.4(DSCAML1):c.6005C>A (p.Ala2002Asp)	DSCAML1 (A2002D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1350796	NM_020693.4(DSCAML1):c.6001G>A (p.Ala2001Thr)	DSCAML1 (A2001T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751088	NM_020693.4(DSCAML1):c.6000C>T (p.Ser2000=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932251	NM_020693.4(DSCAML1):c.5997C>T (p.Pro1999=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412319	NM_020693.4(DSCAML1):c.5992G>A (p.Ala1998Thr)	DSCAML1 (A1998T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782355	NM_020693.4(DSCAML1):c.5988C>T (p.Pro1996=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973137	NM_020693.4(DSCAML1):c.5987C>T (p.Pro1996Leu)	DSCAML1 (P1996L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794660	NM_020693.4(DSCAML1):c.5973C>A (p.Thr1991=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478431	NM_020693.4(DSCAML1):c.5972C>G (p.Thr1991Ser)	DSCAML1 (T1991S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189205	NM_020693.4(DSCAML1):c.5970C>T (p.Pro1990=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847195	NM_020693.4(DSCAML1):c.5969C>T (p.Pro1990Leu)	DSCAML1 (P1990L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302985	NM_020693.4(DSCAML1):c.5965G>C (p.Gly1989Arg)	DSCAML1 (G1989R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1550468	NM_020693.4(DSCAML1):c.5964C>T (p.Pro1988=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989124	NM_020693.4(DSCAML1):c.5963C>T (p.Pro1988Leu)	DSCAML1 (P1988L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154783	NM_020693.4(DSCAML1):c.5944_5961del (p.Gly1982_Ala1987del)	DSCAML1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1940004	NM_020693.4(DSCAML1):c.5960C>T (p.Ala1987Val)	DSCAML1 (A1987V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387847	NM_020693.4(DSCAML1):c.5956C>T (p.Pro1986Ser)	DSCAML1 (P1986S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094217	NM_020693.4(DSCAML1):c.5955C>T (p.Pro1985=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004679	NM_020693.4(DSCAML1):c.5953C>T (p.Pro1985Ser)	DSCAML1 (P1985S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172825	NM_020693.4(DSCAML1):c.5952C>A (p.Ala1984=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670515	NM_020693.4(DSCAML1):c.5952C>G (p.Ala1984=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558033	NM_020693.4(DSCAML1):c.5952C>T (p.Ala1984=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822350	NM_020693.4(DSCAML1):c.5951C>G (p.Ala1984Gly)	DSCAML1 (A1984G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146956	NM_020693.4(DSCAML1):c.5951C>T (p.Ala1984Val)	DSCAML1 (A1984V)	Single nucleotide variant (missense variant)	DSCAML1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1430468	NM_020693.4(DSCAML1):c.5951C>A (p.Ala1984Asp)	DSCAML1 (A1984D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352558	NM_020693.4(DSCAML1):c.5950G>A (p.Ala1984Thr)	DSCAML1 (A1984T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393070	NM_020693.4(DSCAML1):c.5944G>A (p.Gly1982Ser)	DSCAML1 (G1982S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592576	NM_020693.4(DSCAML1):c.5943C>T (p.Ala1981=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3085902	NM_020693.4(DSCAML1):c.5941G>A (p.Ala1981Thr)	DSCAML1 (A1981T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1591799	NM_020693.4(DSCAML1):c.5940A>G (p.Pro1980=)	DSCAML1	Single nucleotide variant (synonymous variant)	DSCAML1-related condition +1 more	GLikely benign
Select item 1524372	NM_020693.4(DSCAML1):c.5939C>A (p.Pro1980Gln)	DSCAML1 (P1980Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983848	NM_020693.4(DSCAML1):c.5938C>T (p.Pro1980Ser)	DSCAML1 (P1980S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916864	NM_020693.4(DSCAML1):c.5938C>A (p.Pro1980Thr)	DSCAML1 (P1980T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436448	NM_020693.4(DSCAML1):c.5938C>G (p.Pro1980Ala)	DSCAML1 (P1980A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523987	NM_020693.4(DSCAML1):c.5936C>T (p.Pro1979Leu)	DSCAML1 (P1979L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1406889	NM_020693.4(DSCAML1):c.5935C>T (p.Pro1979Ser)	DSCAML1 (P1979S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844501	NM_020693.4(DSCAML1):c.5934C>G (p.Ala1978=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529639	NM_020693.4(DSCAML1):c.5934C>A (p.Ala1978=)	DSCAML1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953484	NM_020693.4(DSCAML1):c.5933C>A (p.Ala1978Asp)	DSCAML1 (A1978D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599964	NM_020693.4(DSCAML1):c.5933C>G (p.Ala1978Gly)	DSCAML1 (A1978G)	Single nucleotide variant (missense variant)	DSCAML1-related condition +1 more	GBenign
Select item 3012281	NM_020693.4(DSCAML1):c.5930C>T (p.Pro1977Leu)	DSCAML1 (P1977L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903828	NM_020693.4(DSCAML1):c.5928G>A (p.Met1976Ile)	DSCAML1 (M1976I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004173	NM_020693.4(DSCAML1):c.5924C>T (p.Ala1975Val)	DSCAML1 (A1975V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370015	NM_020693.4(DSCAML1):c.5923G>A (p.Ala1975Thr)	DSCAML1 (A1975T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190484	NM_020693.4(DSCAML1):c.5916G>T (p.Arg1972Ser)	DSCAML1 (R1972S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203434	NM_020693.4(DSCAML1):c.5903C>T (p.Thr1968Ile)	DSCAML1 (T1968I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916140	NM_020693.4(DSCAML1):c.5902A>G (p.Thr1968Ala)	DSCAML1 (T1968A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191000	NM_020693.4(DSCAML1):c.5900C>A (p.Ala1967Asp)	DSCAML1 (A1967D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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