13884[HGNC] - ClinVar

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Items: 58

	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 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	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2460931	NM_022169.5(ABCG4):c.14C>T (p.Ala5Val)	ABCG4 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542576	NM_022169.5(ABCG4):c.68C>A (p.Thr23Lys)	ABCG4 (T23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311490	NM_022169.5(ABCG4):c.82G>A (p.Ala28Thr)	ABCG4 (A28T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161759	NM_022169.5(ABCG4):c.237G>T (p.Arg79Ser)	ABCG4 (R79S)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2250258	NM_022169.5(ABCG4):c.281G>A (p.Arg94His)	ABCG4 (R94H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397525	NM_022169.5(ABCG4):c.461C>T (p.Pro154Leu)	ABCG4 (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773016	NM_022169.5(ABCG4):c.534G>A (p.Lys178=)	ABCG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2357689	NM_022169.5(ABCG4):c.759C>G (p.Ile253Met)	ABCG4 (I253M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385157	NM_022169.5(ABCG4):c.1000G>A (p.Ala334Thr)	ABCG4 (A273T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 778564	NM_022169.5(ABCG4):c.1035C>T (p.Asn345=)	ABCG4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129665	NM_022169.5(ABCG4):c.1039G>A (p.Val347Ile)	ABCG4 (V286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778565	NM_022169.5(ABCG4):c.1055C>T (p.Pro352Leu)	ABCG4 (P291L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2352829	NM_022169.5(ABCG4):c.1166C>T (p.Thr389Met)	ABCG4 (T328M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317758	NM_022169.5(ABCG4):c.1205T>C (p.Ile402Thr)	ABCG4 (I402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354288	NM_022169.5(ABCG4):c.1243G>A (p.Asp415Asn)	ABCG4 (D354N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368852	NM_022169.5(ABCG4):c.1273G>A (p.Gly425Ser)	ABCG4 (G364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540459	NM_022169.5(ABCG4):c.1354G>A (p.Val452Ile)	ABCG4 (V391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129677	NM_022169.5(ABCG4):c.1468G>A (p.Val490Met)	ABCG4 (V429M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129681	NM_022169.5(ABCG4):c.1532C>T (p.Thr511Ile)	ABCG4 (T450I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601566	NM_022169.5(ABCG4):c.1799G>A (p.Arg600Gln)	ABCG4 (R539Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261795	NM_022169.5(ABCG4):c.1921C>T (p.Arg641Trp)	ABCG4 (R580W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512018	NM_022169.5(ABCG4):c.1922G>A (p.Arg641Gln)	ABCG4 (R580Q +1 more)	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 2425315	NC_000011.9:g.(?_118967708)_(119103425_?)dup	DPAGT1, DRC12 +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	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, UPK2 +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	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 833331	NC_000011.9:g.(?_118967698)_(119170501_?)dup	PDZD3, DPAGT1 +6 more	Duplication	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
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 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	IFT46, JAML +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 652390	NC_000011.9:g.(?_118967698)_(119170501_?)del	ABCG4, C2CD2L +6 more	Deletion	Congenital myasthenic syndrome 13 +1 more	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: 58