DRC12[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +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	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +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 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2335336	NM_001145018.3(DRC12):c.598C>T (p.Pro200Ser)	DRC12 (P200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296000	NM_001145018.3(DRC12):c.598C>A (p.Pro200Thr)	DRC12 (P200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235475	NM_001145018.3(DRC12):c.596C>A (p.Pro199His)	DRC12 (P199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273738	NM_001145018.3(DRC12):c.556G>A (p.Ala186Thr)	DRC12 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360886	NM_001145018.3(DRC12):c.410G>A (p.Arg137Gln)	DRC12 (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235474	NM_001145018.3(DRC12):c.403G>A (p.Gly135Arg)	DRC12 (G135R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599704	NM_001145018.3(DRC12):c.379C>T (p.Arg127Trp)	DRC12 (R127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215847	NM_001145018.3(DRC12):c.367G>C (p.Ala123Pro)	DRC12 (A123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299085	NM_001145018.3(DRC12):c.338G>C (p.Arg113Pro)	DRC12 (R113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348781	NM_001145018.3(DRC12):c.265C>T (p.Arg89Cys)	DRC12 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217619	NM_001145018.3(DRC12):c.157C>T (p.Arg53Cys)	DRC12 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396108	NM_001145018.3(DRC12):c.82G>A (p.Glu28Lys)	DRC12 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	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 2425315	NC_000011.9:g.(?_118967708)_(119103425_?)dup	ABCG4, C2CD2L +6 more	Duplication	RASopathy	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	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	GRIK4, H2AX +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 1340179	GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3	ABCG4, C2CD2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 833331	NC_000011.9:g.(?_118967698)_(119170501_?)dup	ABCG4, C2CD2L +6 more	Duplication	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	ABCG4, ARCN1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 652390	NC_000011.9:g.(?_118967698)_(119170501_?)del	ABCG4, C2CD2L +6 more	Deletion	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +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	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +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	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 50