"Ambry Genetics"[submitter] AND "LOC105376105"[gene] - ClinVar

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

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3168531	NM_001145197.1(SPATA31D4):c.275T>C (p.Leu92Pro)	LOC105376105, SPATA31D4 (L92P)	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 2466510	NM_001145197.1(SPATA31D4):c.2083C>T (p.Arg695Cys)	LOC105376105, SPATA31D4 (R695C)	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 2611969	NM_001145197.1(SPATA31D4):c.2231A>T (p.Lys744Met)	LOC105376105, SPATA31D4 (K744M)	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 3168528	NM_001145197.1(SPATA31D4):c.2299G>C (p.Gly767Arg)	LOC105376105, SPATA31D4 (G767R)	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 2408203	NM_001145197.1(SPATA31D4):c.2373C>G (p.Asp791Glu)	LOC105376105, SPATA31D4 (D791E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2297308	NM_001145197.1(SPATA31D4):c.2408G>A (p.Gly803Glu)	LOC105376105, SPATA31D4 (G803E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2477391	NM_001145197.1(SPATA31D4):c.2471A>G (p.Glu824Gly)	LOC105376105, SPATA31D4 (E824G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2620032	NM_001145197.1(SPATA31D4):c.2525G>A (p.Arg842Gln)	LOC105376105, SPATA31D4 (R842Q)	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 2400956	NM_001145197.1(SPATA31D4):c.2564A>G (p.Lys855Arg)	LOC105376105, SPATA31D4 (K855R)	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 2457064	NM_001145197.1(SPATA31D4):c.2575T>C (p.Cys859Arg)	LOC105376105, SPATA31D4 (C859R)	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 3321958	NM_001145197.1(SPATA31D4):c.2634T>A (p.Ser878Arg)	LOC105376105, SPATA31D4 (S878R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2333787	NM_001145197.1(SPATA31D4):c.2645G>A (p.Gly882Asp)	LOC105376105, SPATA31D4 (G882D)	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 2234708	NM_001145197.1(SPATA31D4):c.2665A>T (p.Met889Leu)	LOC105376105, SPATA31D4 (M889L)	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62