54766[geneid] - ClinVar

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Items: 39

	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 2223738	NM_001367975.1(BTG4):c.614C>T (p.Ser205Leu)	BTG4 (S205L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378450	NM_001367975.1(BTG4):c.589C>G (p.Leu197Val)	BTG4 (L197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386550	NM_001367975.1(BTG4):c.581G>A (p.Arg194His)	BTG4 (R194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135482	NM_001367975.1(BTG4):c.557G>A (p.Arg186His)	BTG4 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371218	NM_001367975.1(BTG4):c.556C>T (p.Arg186Cys)	BTG4 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483671	NM_001367975.1(BTG4):c.543G>T (p.Trp181Cys)	BTG4 (W181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135481	NM_001367975.1(BTG4):c.511G>A (p.Val171Ile)	BTG4 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977517	NM_001367975.1(BTG4):c.475_478del (p.Ile159fs)	BTG4 (I159fs)	Deletion (frameshift variant)	Oocyte maturation defect 8	GPathogenic
Select item 2363006	NM_001367975.1(BTG4):c.421G>A (p.Val141Ile)	BTG4 (V141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262044	NM_001367975.1(BTG4):c.406A>G (p.Arg136Gly)	BTG4 (R136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1802187	NM_001367975.1(BTG4):c.285G>C (p.Trp95Cys)	BTG4	Single nucleotide variant (missense variant)	Oocyte maturation defect 8	GPathogenic
Select item 2321518	NM_001367975.1(BTG4):c.203A>G (p.Lys68Arg)	BTG4 (K68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977514	NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr)	BTG4 (A56T)	Single nucleotide variant (missense variant)	Oocyte maturation defect 8	GLikely pathogenic
Select item 2532373	NM_001367975.1(BTG4):c.158A>G (p.Lys53Arg)	BTG4 (K53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347606	NM_001367975.1(BTG4):c.145G>A (p.Asp49Asn)	BTG4 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295963	NM_001367975.1(BTG4):c.134A>G (p.His45Arg)	BTG4 (H45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977515	NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter)	BTG4 (Q25*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 8	GLikely pathogenic
Select item 2375019	NM_001367975.1(BTG4):c.5G>A (p.Arg2Lys)	BTG4 (R2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977516	NM_001367975.1(BTG4):c.1A>G (p.Met1Val)	BTG4 (M1V)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 8	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	BTG4, C11orf52 +20 more	Deletion	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	MIR34C, PIH1D2 +20 more	Deletion	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	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 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	CFAP68, CRYAB +20 more	Duplication	Carney-Stratakis syndrome +3 more	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 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	ALG9, BTG4 +20 more	Deletion	Cowden syndrome 3 +3 more	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
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

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Items: 39