11818[HGNC] - ClinVar

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Items: 38

	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 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2557156	NM_012459.4(TIMM8B):c.217C>T (p.Arg73Trp)	TIMM8B (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556900	NM_012459.4(TIMM8B):c.199A>G (p.Thr67Ala)	TIMM8B (T67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326193	NM_012459.4(TIMM8B):c.173G>A (p.Ser58Asn)	TIMM8B (S58N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177559	NM_012459.4(TIMM8B):c.152G>A (p.Arg51His)	TIMM8B (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608232	NM_012459.4(TIMM8B):c.140G>A (p.Arg47His)	TIMM8B (R47H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177558	NM_012459.4(TIMM8B):c.124G>A (p.Glu42Lys)	TIMM8B (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397089	NM_012459.4(TIMM8B):c.65A>G (p.Lys22Arg)	LOC126861339, TIMM8B (K22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177556	NM_012459.4(TIMM8B):c.56A>T (p.Glu19Val)	LOC126861339, TIMM8B (E19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177563	NM_012459.4(TIMM8B):c.31G>A (p.Glu11Lys)	LOC126861339, TIMM8B (E11K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177562	NM_012459.4(TIMM8B):c.2T>C (p.Met1Thr)	LOC126861339, TIMM8B (M1T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177561	NM_012459.4(TIMM8B):c.-8G>C	LOC126861339, TIMM8B	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3177560	NM_012459.4(TIMM8B):c.-15A>G	LOC126861339, TIMM8B	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295604	NM_012459.4(TIMM8B):c.-32G>A	LOC126861339, TIMM8B	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3177557	NM_012459.2(TIMM8B):c.10C>T (p.His4Tyr)	LOC126861339, TIMM8B (H4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684655	GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	BCO2, DIXDC1 +10 more	Copy number gain	not provided	GUncertain significance
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 1410524	NC_000011.9:g.(?_111779478)_(111961866_?)dup	C11orf52, CRYAB +7 more	Duplication	Dilated cardiomyopathy 1II	GUncertain significance
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 1076623	NC_000011.9:g.(?_111956548)_(111967525_?)del	SDHD, TIMM8B	Deletion	Cowden syndrome 3 +3 more	GPathogenic
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: 38