ATP5MG[gene] - ClinVar

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Items: 42

	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 3131791	NM_006476.5(ATP5MG):c.29A>C (p.Glu10Ala)	ATP5MG, LOC100131626 (E10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131792	NM_006476.5(ATP5MG):c.38C>T (p.Pro13Leu)	ATP5MG, LOC100131626 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131793	NM_006476.5(ATP5MG):c.77G>T (p.Arg26Leu)	ATP5MG, LOC100131626 (R26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131794	NM_006476.5(ATP5MG):c.79T>A (p.Leu27Met)	ATP5MG, LOC100131626 (L27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131795	NM_006476.5(ATP5MG):c.80T>C (p.Leu27Ser)	ATP5MG, LOC100131626 (L27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131787	NM_006476.5(ATP5MG):c.128C>A (p.Pro43His)	ATP5MG, LOC100131626 (P43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131788	NM_006476.5(ATP5MG):c.149T>C (p.Ile50Thr)	ATP5MG, LOC100131626 (I50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545119	NM_006476.5(ATP5MG):c.173A>G (p.Asn58Ser)	ATP5MG, LOC100131626 (N58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131789	NM_006476.5(ATP5MG):c.184A>T (p.Thr62Ser)	ATP5MG, LOC100131626 (T62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477498	NM_006476.5(ATP5MG):c.235G>A (p.Val79Met)	ATP5MG, LOC100131626 (V79M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131790	NM_006476.5(ATP5MG):c.286C>T (p.Arg96Trp)	ATP5MG, LOC100131626 (R96W)	Single nucleotide variant (missense variant +1 more)	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 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	CENATAC, CEP164 +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	ACER3, ACP2 +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	CD3D, CD3E +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +3 more	GPathogenic
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 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	IFT46, JAML +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)	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: 42