ClinVar for Gene (Select 196264) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2610964	NM_198275.3(MPZL3):c.328G>T (p.Asp110Tyr)	MPZL3 (D98Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600323	NM_198275.3(MPZL3):c.31G>C (p.Gly11Arg)	MPZL3 (G11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547128	NM_198275.3(MPZL3):c.677G>A (p.Cys226Tyr)	MPZL3 (C214Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545529	NM_198275.3(MPZL3):c.193A>G (p.Thr65Ala)	MPZL3 (T53A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526369	NM_198275.3(MPZL3):c.655C>A (p.Leu219Ile)	MPZL3 (L207I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519597	NM_198275.3(MPZL3):c.305G>C (p.Trp102Ser)	MPZL3 (W102S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473400	NM_198275.3(MPZL3):c.611C>T (p.Ser204Phe)	MPZL3 (S192F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460137	NM_198275.3(MPZL3):c.491T>C (p.Ile164Thr)	MPZL3 (I164T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456991	NM_198275.3(MPZL3):c.209A>G (p.Tyr70Cys)	MPZL3 (Y58C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2404387	NM_198275.3(MPZL3):c.181A>G (p.Thr61Ala)	MPZL3 (T49A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382662	NM_198275.3(MPZL3):c.19G>T (p.Ala7Ser)	MPZL3 (A7S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360550	NM_198275.3(MPZL3):c.125G>A (p.Gly42Asp)	MPZL3 (G30D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282678	NM_198275.3(MPZL3):c.550A>C (p.Lys184Gln)	MPZL3 (K172Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243032	NM_198275.3(MPZL3):c.571A>G (p.Arg191Gly)	MPZL3 (R191G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	ATP5MG, SCN4B +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 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Immunodeficiency 18 +4 more	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	H2AX, DDX6 +31 more	Deletion	Inflammatory bowel disease 28 +3 more	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 789800	NM_198275.3(MPZL3):c.644_645del (p.Cys215fs)	MPZL3 (C203fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GBenign
Select item 776663	NM_198275.3(MPZL3):c.514G>A (p.Val172Met)	MPZL3 (V172M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714056	NM_198275.3(MPZL3):c.463A>G (p.Met155Val)	MPZL3 (M155V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	SLC37A4, TMEM25 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
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)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +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
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 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 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 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 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 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 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 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 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47