Related gene-specific medical variations for Gene (Select 389761) - ClinVar

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Items: 28

	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 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

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Links from Gene

Items: 28