ClinVar for Gene (Select 7111) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ABCA1, ABCA2 +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	TBC1D2, TDRD7 +22 more	Duplication	ALG2-congenital disorder of glycosylation +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	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +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	ANKS6, TRMO +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	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +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	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +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)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +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)	LOC126860765, LOC126860766 +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	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 50