ClinVar for Gene (Select 389761) - ClinVar

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

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321960	NM_001145197.1(SPATA31D4):c.2504T>G (p.Phe835Cys)	LOC105376105, SPATA31D4 (F835C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321959	NM_001145197.1(SPATA31D4):c.2573T>C (p.Ile858Thr)	LOC105376105, SPATA31D4 (I858T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321958	NM_001145197.1(SPATA31D4):c.2634T>A (p.Ser878Arg)	LOC105376105, SPATA31D4 (S878R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168531	NM_001145197.1(SPATA31D4):c.275T>C (p.Leu92Pro)	LOC105376105, SPATA31D4 (L92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168529	NM_001145197.1(SPATA31D4):c.2335A>G (p.Lys779Glu)	LOC105376105, SPATA31D4 (K779E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168528	NM_001145197.1(SPATA31D4):c.2299G>C (p.Gly767Arg)	LOC105376105, SPATA31D4 (G767R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168527	NM_001145197.1(SPATA31D4):c.2268G>C (p.Arg756Ser)	LOC105376105, SPATA31D4 (R756S)	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 2659273	NM_001145197.1(SPATA31D4):c.273G>A (p.Lys91=)	LOC105376105, SPATA31D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620032	NM_001145197.1(SPATA31D4):c.2525G>A (p.Arg842Gln)	LOC105376105, SPATA31D4 (R842Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611969	NM_001145197.1(SPATA31D4):c.2231A>T (p.Lys744Met)	LOC105376105, SPATA31D4 (K744M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602966	NM_001145197.1(SPATA31D4):c.2664G>C (p.Glu888Asp)	LOC105376105, SPATA31D4 (E888D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558486	NM_001145197.1(SPATA31D4):c.2527A>T (p.Met843Leu)	LOC105376105, SPATA31D4 (M843L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477391	NM_001145197.1(SPATA31D4):c.2471A>G (p.Glu824Gly)	LOC105376105, SPATA31D4 (E824G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469748	NM_001145197.1(SPATA31D4):c.2141A>G (p.Asn714Ser)	LOC105376105, SPATA31D4 (N714S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466510	NM_001145197.1(SPATA31D4):c.2083C>T (p.Arg695Cys)	LOC105376105, SPATA31D4 (R695C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463546	NM_001145197.1(SPATA31D4):c.2426T>A (p.Leu809Gln)	LOC105376105, SPATA31D4 (L809Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457064	NM_001145197.1(SPATA31D4):c.2575T>C (p.Cys859Arg)	LOC105376105, SPATA31D4 (C859R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408203	NM_001145197.1(SPATA31D4):c.2373C>G (p.Asp791Glu)	LOC105376105, SPATA31D4 (D791E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400956	NM_001145197.1(SPATA31D4):c.2564A>G (p.Lys855Arg)	LOC105376105, SPATA31D4 (K855R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395889	NM_001145197.1(SPATA31D4):c.2749A>G (p.Ile917Val)	LOC105376105, SPATA31D4 (I917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333787	NM_001145197.1(SPATA31D4):c.2645G>A (p.Gly882Asp)	LOC105376105, SPATA31D4 (G882D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321127	NM_001145197.1(SPATA31D4):c.2042G>A (p.Arg681Lys)	LOC105376105, SPATA31D4 (R681K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297308	NM_001145197.1(SPATA31D4):c.2408G>A (p.Gly803Glu)	LOC105376105, SPATA31D4 (G803E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294755	NM_001145197.1(SPATA31D4):c.2643C>A (p.His881Gln)	LOC105376105, SPATA31D4 (H881Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280643	NM_001145197.1(SPATA31D4):c.2385G>T (p.Arg795Ser)	LOC105376105, SPATA31D4 (R795S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234708	NM_001145197.1(SPATA31D4):c.2665A>T (p.Met889Leu)	LOC105376105, SPATA31D4 (M889L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226402	NM_001145197.1(SPATA31D4):c.265G>C (p.Glu89Gln)	LOC105376105, SPATA31D4 (E89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211253	NM_001145197.1(SPATA31D4):c.2576G>C (p.Cys859Ser)	LOC105376105, SPATA31D4 (C859S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809318	GRCh37/hg19 9q21.31-21.32(chr9:84027223-84848369)x3	SPATA31D1, SPATA31D3 +2 more	Copy number gain	not provided	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 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +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 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
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	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 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	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 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: 59