MCAM[gene] - ClinVar

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Items: 78

	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 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +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	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2608924	NM_006500.3(MCAM):c.1846A>G (p.Lys616Glu)	MCAM (K616E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400037	NM_006500.3(MCAM):c.1811G>A (p.Arg604His)	MCAM (R604H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283853	NM_006500.3(MCAM):c.1796C>T (p.Thr599Met)	MCAM (T599M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383264	NM_006500.3(MCAM):c.1757G>A (p.Gly586Asp)	MCAM (G586D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784219	NM_006500.3(MCAM):c.1719G>A (p.Ala573=)	MCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2465898	NM_006500.3(MCAM):c.1718C>T (p.Ala573Val)	MCAM (A573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327296	NM_006500.3(MCAM):c.1715T>C (p.Leu572Pro)	MCAM (L572P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124168	NM_006500.3(MCAM):c.1697T>C (p.Ile566Thr)	MCAM (I566T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124167	NM_006500.3(MCAM):c.1664C>T (p.Pro555Leu)	MCAM (P555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124166	NM_006500.3(MCAM):c.1658C>T (p.Pro553Leu)	MCAM (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350478	NM_006500.3(MCAM):c.1637C>A (p.Thr546Asn)	MCAM (T546N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477030	NM_006500.3(MCAM):c.1543G>A (p.Glu515Lys)	MCAM (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461354	NM_006500.3(MCAM):c.1415A>T (p.Glu472Val)	MCAM (E472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124165	NM_006500.3(MCAM):c.1412G>A (p.Ser471Asn)	MCAM (S471N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124164	NM_006500.3(MCAM):c.1339G>C (p.Val447Leu)	MCAM (V447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124163	NM_006500.3(MCAM):c.1304T>A (p.Phe435Tyr)	MCAM (F435Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607103	NM_006500.3(MCAM):c.1271A>T (p.Asn424Ile)	MCAM (N424I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124162	NM_006500.3(MCAM):c.1243C>G (p.Pro415Ala)	MCAM (P415A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363163	NM_006500.3(MCAM):c.1217G>A (p.Arg406His)	MCAM (R406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124161	NM_006500.3(MCAM):c.1187A>G (p.Asp396Gly)	MCAM (D396G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784220	NM_006500.3(MCAM):c.1180T>A (p.Leu394Met)	MCAM (L394M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2462506	NM_006500.3(MCAM):c.1060G>A (p.Glu354Lys)	MCAM (E354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588510	NM_006500.3(MCAM):c.989C>G (p.Ser330Trp)	MCAM (S330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124171	NM_006500.3(MCAM):c.950G>A (p.Arg317His)	MCAM (R317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615137	NM_006500.3(MCAM):c.949C>A (p.Arg317Ser)	MCAM (R317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708893	NM_006500.3(MCAM):c.929C>T (p.Ala310Val)	MCAM (A310V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615136	NM_006500.3(MCAM):c.926C>G (p.Pro309Arg)	MCAM (P309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409115	NM_006500.3(MCAM):c.907G>A (p.Gly303Arg)	MCAM (G303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275381	NM_006500.3(MCAM):c.901G>A (p.Asp301Asn)	MCAM (D301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329990	NM_006500.3(MCAM):c.877G>A (p.Glu293Lys)	MCAM (E293K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246017	NM_006500.3(MCAM):c.827G>C (p.Gly276Ala)	MCAM (G276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373516	NM_006500.3(MCAM):c.794G>A (p.Gly265Glu)	MCAM (G265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455122	NM_006500.3(MCAM):c.775G>C (p.Val259Leu)	MCAM (V259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590899	NM_006500.3(MCAM):c.743C>T (p.Pro248Leu)	MCAM (P248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254689	NM_006500.3(MCAM):c.705G>A (p.Met235Ile)	MCAM (M235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514376	NM_006500.3(MCAM):c.683G>A (p.Arg228Gln)	MCAM (R228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605920	NM_006500.3(MCAM):c.536G>A (p.Arg179Gln)	MCAM (R179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363884	NM_006500.3(MCAM):c.458A>T (p.Lys153Met)	MCAM (K153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598935	NM_006500.3(MCAM):c.457A>G (p.Lys153Glu)	MCAM (K153E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252644	NM_006500.3(MCAM):c.440G>A (p.Gly147Asp)	MCAM (G147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258624	NM_006500.3(MCAM):c.391C>T (p.Arg131Cys)	MCAM (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124170	NM_006500.3(MCAM):c.335G>A (p.Arg112His)	MCAM (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363277	NM_006500.3(MCAM):c.319A>T (p.Thr107Ser)	MCAM (T107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603399	NM_006500.3(MCAM):c.271C>G (p.Arg91Gly)	MCAM (R91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588269	NM_006500.3(MCAM):c.168C>A (p.Asn56Lys)	MCAM (N56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524970	NM_006500.3(MCAM):c.61G>A (p.Val21Ile)	MCAM (V21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	ARHGEF12, C1QTNF5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	C2CD2L, CXCR5 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1015400	NC_000011.9:g.(?_119077108)_(120133495_?)dup	RNF26, USP2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	VPS11, ABCG4 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic

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Items: 78