ClinVar for Gene (Select 7111) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327267	NM_003275.4(TMOD1):c.241C>G (p.Arg81Gly)	TMOD1 (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327266	NM_003275.4(TMOD1):c.824C>T (p.Ala275Val)	TMOD1 (A275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327265	NM_003275.4(TMOD1):c.624C>G (p.Ile208Met)	TMOD1 (I208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179805	NM_003275.4(TMOD1):c.745A>G (p.Lys249Glu)	TMOD1 (K249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179804	NM_003275.4(TMOD1):c.703C>T (p.Arg235Trp)	TMOD1 (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179803	NM_003275.4(TMOD1):c.140G>C (p.Gly47Ala)	TMOD1 (G47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179802	NM_003275.4(TMOD1):c.125C>T (p.Ala42Val)	TMOD1 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179801	NM_003275.4(TMOD1):c.1007A>G (p.Asn336Ser)	TMOD1 (N336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3062028	NM_003275.4(TMOD1):c.565C>T (p.Arg189Trp)	TMOD1 (R189W)	Single nucleotide variant (missense variant)	Idiopathic cardiomyopathy	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659337	NM_003275.4(TMOD1):c.525C>T (p.Asp175=)	TMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570264	NM_003275.4(TMOD1):c.1034C>T (p.Ala345Val)	TMOD1 (A345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525022	NM_003275.4(TMOD1):c.817G>A (p.Val273Ile)	TMOD1 (V273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521657	NM_003275.4(TMOD1):c.176C>T (p.Thr59Met)	TMOD1 (T59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515877	NM_003275.4(TMOD1):c.170C>T (p.Ala57Val)	TMOD1 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2298913	NM_003275.4(TMOD1):c.980G>A (p.Arg327Gln)	TMOD1 (R327Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216118	NM_003275.4(TMOD1):c.576C>G (p.Asn192Lys)	TMOD1 (N192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1459792	NC_000009.11:g.(?_100190748)_(103062956_?)del	CORO2A, ERP44 +22 more	Deletion	Nephronophthisis	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 832760	NC_000009.12:g.(?_97428446)_(98796511_?)dup	TSTD2, XPA +13 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 815271	GRCh37/hg19 9q22.33(chr9:100306203-100528811)x3	TSTD2, NCBP1 +2 more	Copy number gain	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687713	GRCh37/hg19 9q22.33(chr9:100310710-100535203)x3	NCBP1, TMOD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53