ClinVar for Gene (Select 85458) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082633	NM_001037954.4(DIXDC1):c.802C>T (p.Arg268Trp)	DIXDC1 (R268W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082632	NM_001037954.4(DIXDC1):c.694G>A (p.Glu232Lys)	DIXDC1 (E232K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082631	NM_001037954.4(DIXDC1):c.691A>C (p.Ser231Arg)	DIXDC1 (S231R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082630	NM_001037954.4(DIXDC1):c.581C>T (p.Pro194Leu)	DIXDC1 (P193L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082629	NM_001037954.4(DIXDC1):c.493G>A (p.Asp165Asn)	DIXDC1 (D164N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082628	NM_001037954.4(DIXDC1):c.304A>G (p.Thr102Ala)	DIXDC1 (T102A +1 more)	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 2568737	NM_001037954.4(DIXDC1):c.413G>A (p.Arg138Gln)	DIXDC1 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517847	NM_001037954.4(DIXDC1):c.181G>A (p.Glu61Lys)	DIXDC1 (E60K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467039	NM_001037954.4(DIXDC1):c.1273A>C (p.Lys425Gln)	DIXDC1 (K425Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426878	NC_000011.9:g.(?_111657121)_(111922093_?)del	ALG9, C11orf52 +6 more	Deletion	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	NKAPD1, POU2AF1 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Paragangliomas with sensorineural hearing loss +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 2403832	NM_001037954.4(DIXDC1):c.1824C>A (p.Asp608Glu)	DIXDC1 (D608E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368271	NM_001037954.4(DIXDC1):c.398C>T (p.Thr133Met)	DIXDC1 (T132M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332760	NM_001037954.4(DIXDC1):c.124C>G (p.Pro42Ala)	DIXDC1 (P41A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332333	NM_001037954.4(DIXDC1):c.293G>A (p.Arg98His)	DIXDC1 (R98H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319138	NM_001037954.4(DIXDC1):c.116C>T (p.Ala39Val)	DIXDC1 (A38V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302733	NM_001037954.4(DIXDC1):c.2030A>G (p.Glu677Gly)	DIXDC1 (E677G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252526	NM_001037954.4(DIXDC1):c.1407G>T (p.Leu469Phe)	DIXDC1 (L258F +1 more)	Single nucleotide variant (missense variant)	not specified	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	GRIA4, GRIK4 +956 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	PCSK7, PGR +183 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	PIH1D2, POU2AF1 +20 more	Duplication	Cowden syndrome 3 +3 more	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	HSPB2, LAYN +20 more	Deletion	Pheochromocytoma +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 783647	NM_001037954.4(DIXDC1):c.1824C>T (p.Asp608=)	DIXDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729282	NM_001037954.4(DIXDC1):c.1038T>C (p.Ser346=)	DIXDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727476	NM_001037954.4(DIXDC1):c.55A>G (p.Asn19Asp)	DIXDC1 (N19D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 631529	NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter)	DIXDC1 (R265* +1 more)	Single nucleotide variant (nonsense)	Obesity	GLikely pathogenic
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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 221482	GRCh37/hg19 11q23.1(chr11:111789713-111857622)x4	DIXDC1, C11orf52	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45