SPATA31D3[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 2281067	NM_207416.3(SPATA31D3):c.255A>C (p.Glu85Asp)	LOC105376105, SPATA31D3 (E85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518921	NM_207416.3(SPATA31D3):c.275T>C (p.Leu92Pro)	LOC105376105, SPATA31D3 (L92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168524	NM_207416.3(SPATA31D3):c.281C>A (p.Ser94Tyr)	LOC105376105, SPATA31D3 (S94Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168526	NM_207416.3(SPATA31D3):c.290A>G (p.Lys97Arg)	LOC105376105, SPATA31D3 (K97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215037	NM_207416.3(SPATA31D3):c.2083C>T (p.Arg695Cys)	LOC105376105, SPATA31D3 (R695C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327482	NM_207416.3(SPATA31D3):c.2179G>A (p.Gly727Ser)	LOC105376105, SPATA31D3 (G727S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379678	NM_207416.3(SPATA31D3):c.2180G>A (p.Gly727Asp)	LOC105376105, SPATA31D3 (G727D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327483	NM_207416.3(SPATA31D3):c.2180G>T (p.Gly727Val)	LOC105376105, SPATA31D3 (G727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168513	NM_207416.3(SPATA31D3):c.2236G>A (p.Ala746Thr)	LOC105376105, SPATA31D3 (A746T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555202	NM_207416.3(SPATA31D3):c.2306A>T (p.Tyr769Phe)	LOC105376105, SPATA31D3 (Y769F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291912	NM_207416.3(SPATA31D3):c.2330C>T (p.Ala777Val)	LOC105376105, SPATA31D3 (A777V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168514	NM_207416.3(SPATA31D3):c.2340C>G (p.Asn780Lys)	LOC105376105, SPATA31D3 (N780K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328167	NM_207416.3(SPATA31D3):c.2365T>A (p.Ser789Thr)	LOC105376105, SPATA31D3 (S789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410471	NM_207416.3(SPATA31D3):c.2373G>C (p.Glu791Asp)	LOC105376105, SPATA31D3 (E791D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236088	NM_207416.3(SPATA31D3):c.2373G>T (p.Glu791Asp)	LOC105376105, SPATA31D3 (E791D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168515	NM_207416.3(SPATA31D3):c.2385G>T (p.Arg795Ser)	LOC105376105, SPATA31D3 (R795S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493109	NM_207416.3(SPATA31D3):c.2391C>G (p.Asn797Lys)	LOC105376105, SPATA31D3 (N797K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168516	NM_207416.3(SPATA31D3):c.2408G>A (p.Gly803Glu)	LOC105376105, SPATA31D3 (G803E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257718	NM_207416.3(SPATA31D3):c.2428T>C (p.Ser810Pro)	LOC105376105, SPATA31D3 (S810P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255307	NM_207416.3(SPATA31D3):c.2434A>G (p.Asn812Asp)	LOC105376105, SPATA31D3 (N812D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168517	NM_207416.3(SPATA31D3):c.2443G>C (p.Gly815Arg)	LOC105376105, SPATA31D3 (G815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168518	NM_207416.3(SPATA31D3):c.2479C>G (p.Leu827Val)	LOC105376105, SPATA31D3 (L827V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383812	NM_207416.3(SPATA31D3):c.2488C>T (p.His830Tyr)	LOC105376105, SPATA31D3 (H830Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168519	NM_207416.3(SPATA31D3):c.2489A>G (p.His830Arg)	LOC105376105, SPATA31D3 (H830R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168520	NM_207416.3(SPATA31D3):c.2525G>A (p.Arg842Gln)	LOC105376105, SPATA31D3 (R842Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209934	NM_207416.3(SPATA31D3):c.2574A>G (p.Ile858Met)	LOC105376105, SPATA31D3 (I858M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168521	NM_207416.3(SPATA31D3):c.2576G>A (p.Cys859Tyr)	LOC105376105, SPATA31D3 (C859Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209935	NM_207416.3(SPATA31D3):c.2576G>C (p.Cys859Ser)	LOC105376105, SPATA31D3 (C859S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469300	NM_207416.3(SPATA31D3):c.2581C>T (p.Pro861Ser)	LOC105376105, SPATA31D3 (P861S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550305	NM_207416.3(SPATA31D3):c.2582C>T (p.Pro861Leu)	LOC105376105, SPATA31D3 (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168522	NM_207416.3(SPATA31D3):c.2633G>T (p.Ser878Ile)	LOC105376105, SPATA31D3 (S878I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168523	NM_207416.3(SPATA31D3):c.2643C>G (p.His881Gln)	LOC105376105, SPATA31D3 (H881Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332416	NM_207416.3(SPATA31D3):c.2659C>A (p.Gln887Lys)	LOC105376105, SPATA31D3 (Q887K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321957	NM_207416.3(SPATA31D3):c.2708A>C (p.His903Pro)	LOC105376105, SPATA31D3 (H903P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567069	NM_207416.3(SPATA31D3):c.2731C>A (p.Pro911Thr)	LOC105376105, SPATA31D3 (P911T)	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 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

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Items: 66