933[HGNC] - ClinVar

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Items: 61

	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 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 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 2348594	NM_012104.6(BACE1):c.1459C>T (p.Arg487Cys)	BACE1, LOC126861353 (R362C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132762	NM_012104.6(BACE1):c.1376C>A (p.Ala459Asp)	BACE1, LOC126861353 (A225D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132761	NM_012104.6(BACE1):c.1373T>C (p.Ile458Thr)	BACE1, LOC126861353 (I389T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615291	NM_012104.6(BACE1):c.1366A>G (p.Met456Val)	BACE1, LOC126861353 (M331V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305687	NM_012104.6(BACE1):c.1361C>A (p.Thr454Asn)	BACE1, LOC126861353 (T410N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132760	NM_012104.6(BACE1):c.1360A>G (p.Thr454Ala)	BACE1, LOC126861353 (T329A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364102	NM_012104.6(BACE1):c.1353T>A (p.Asp451Glu)	BACE1, LOC126861353 (D382E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607508	NM_012104.6(BACE1):c.1310C>T (p.Thr437Ile)	BACE1, LOC126861353 (T312I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259750	NM_012104.6(BACE1):c.1270G>A (p.Asp424Asn)	BACE1, LOC126861353 (D299N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517711	NM_012104.6(BACE1):c.1226C>T (p.Ala409Val)	BACE1 (A175V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132759	NM_012104.6(BACE1):c.1054G>A (p.Val352Ile)	BACE1 (V118I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459303	NM_012104.6(BACE1):c.962G>A (p.Gly321Asp)	BACE1 (G321D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214737	NM_012104.6(BACE1):c.944C>T (p.Thr315Met)	BACE1 (T246M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259762	NM_012104.6(BACE1):c.935C>T (p.Ala312Val)	BACE1, BACE1-AS (A187V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259772	NM_012104.6(BACE1):c.929A>G (p.Lys310Arg)	BACE1, BACE1-AS (K241R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609693	NM_012104.6(BACE1):c.886C>T (p.Arg296Cys)	BACE1, BACE1-AS (R271C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465013	NM_012104.6(BACE1):c.828G>T (p.Met276Ile)	BACE1 (M232I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303439	NM_012104.6(BACE1):c.770A>C (p.Glu257Ala)	BACE1 (E232A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132770	NM_012104.6(BACE1):c.764G>A (p.Arg255Gln)	BACE1 (R155Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132769	NM_012104.6(BACE1):c.763C>T (p.Arg255Trp)	BACE1 (R186W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389818	NM_012104.6(BACE1):c.736A>G (p.Thr246Ala)	BACE1 (T12A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132768	NM_012104.6(BACE1):c.677A>C (p.Glu226Ala)	BACE1 (E226A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132767	NM_012104.6(BACE1):c.650G>A (p.Gly217Asp)	BACE1 (G148D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259780	NM_012104.6(BACE1):c.574G>A (p.Asp192Asn)	BACE1 (D148N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267670	NM_012104.6(BACE1):c.407A>G (p.Lys136Arg)	BACE1 (K36R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132766	NM_012104.6(BACE1):c.398C>A (p.Thr133Asn)	BACE1 (T133N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132764	NM_012104.6(BACE1):c.311C>A (p.Ala104Asp)	BACE1 (A104D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525596	NM_012104.6(BACE1):c.254C>T (p.Pro85Leu)	BACE1 (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132763	NM_012104.6(BACE1):c.191T>C (p.Val64Ala)	BACE1 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403962	NM_012104.6(BACE1):c.118G>C (p.Gly40Arg)	BACE1 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304374	NM_012104.6(BACE1):c.97G>T (p.Gly33Cys)	BACE1, LOC130006821 (G33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132765	NM_012104.6(BACE1):c.34A>G (p.Met12Val)	BACE1, LOC130006821 (M12V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	IL10RA, PAFAH1B2 +17 more	Deletion	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	ABCG4, APOA1 +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 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
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: 61