"Ambry Genetics"[submitter] AND "SPATA31A7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168446	NC_000009.12:g.60914424G>A	SPATA31A5, SPATA31A7 (A11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168447	NC_000009.12:g.60914425C>T	SPATA31A5, SPATA31A7 (A11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321933	NC_000009.12:g.60914454C>G	SPATA31A5, SPATA31A7 (P7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168457	NC_000009.12:g.60914486C>A	SPATA31A5, SPATA31A7 (N17K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168458	NC_000009.12:g.60914491C>T	SPATA31A5, SPATA31A7 (P19L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168406	NC_000009.12:g.60914497C>T	SPATA31A5, SPATA31A7 (S35F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168407	NC_000009.12:g.60914503C>A	SPATA31A5, SPATA31A7 (P23Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168442	NC_000009.12:g.60915842G>A	SPATA31A5, SPATA31A7 (R70Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168445	NC_000009.12:g.60916475G>C	SPATA31A5, SPATA31A7 (E92Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168454	NC_000009.12:g.60916800G>A	SPATA31A5, SPATA31A7 (G115D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168455	NC_000009.12:g.60916832G>A	SPATA31A5, SPATA31A7 (V140M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168456	NC_000009.12:g.60916851A>T	SPATA31A5, SPATA31A7 (D146V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490721	NC_000009.12:g.60916881T>C	SPATA31A5, SPATA31A7 (M156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168410	NC_000009.12:g.60917837A>G	SPATA31A5, SPATA31A7 (T475A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168411	NC_000009.12:g.60917841T>A	SPATA31A5, SPATA31A7 (M476K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168412	NC_000009.12:g.60917924C>T	SPATA31A5, SPATA31A7 (R490W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168413	NC_000009.12:g.60917925G>T	SPATA31A5, SPATA31A7 (R490L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168414	NC_000009.12:g.60917960C>T	SPATA31A5, SPATA31A7 (H516Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168415	NC_000009.12:g.60917985T>C	SPATA31A5, SPATA31A7 (L524P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168416	NC_000009.12:g.60918000C>T	SPATA31A5, SPATA31A7 (P529L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168417	NC_000009.12:g.60918012A>G	SPATA31A5, SPATA31A7 (Q519R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168418	NC_000009.12:g.60918039C>T	SPATA31A5, SPATA31A7 (S528L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168420	NC_000009.12:g.60918243G>A	SPATA31A5, SPATA31A7 (R596Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462793	NC_000009.12:g.60918303G>C	SPATA31A5, SPATA31A7 (R616T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168422	NC_000009.12:g.60918347C>A	SPATA31A5, SPATA31A7 (P645T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168423	NC_000009.12:g.60918365A>G	SPATA31A5, SPATA31A7 (K651E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471837	NC_000009.12:g.60918395A>G	SPATA31A5, SPATA31A7 (M647V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168424	NC_000009.12:g.60918396T>C	SPATA31A5, SPATA31A7 (M647T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168427	NC_000009.12:g.60918454C>A	SPATA31A5, SPATA31A7 (D666E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168429	NC_000009.12:g.60918470G>A	SPATA31A5, SPATA31A7 (G686R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168431	NC_000009.12:g.60918489C>A	SPATA31A5, SPATA31A7 (T692N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168432	NC_000009.12:g.60918509G>A	SPATA31A5, SPATA31A7 (D685N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168433	NC_000009.12:g.60918512A>T	SPATA31A5, SPATA31A7 (M686L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168434	NC_000009.12:g.60918524C>T	SPATA31A5, SPATA31A7 (P690S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168435	NC_000009.12:g.60918533G>A	SPATA31A5, SPATA31A7 (V693I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168436	NC_000009.12:g.60918540G>T	SPATA31A5, SPATA31A7 (G709V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168437	NC_000009.12:g.60918545A>G	SPATA31A5, SPATA31A7 (T711A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168438	NC_000009.12:g.60918549C>T	SPATA31A5, SPATA31A7 (S712F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458111	NC_000009.12:g.60918584A>G	SPATA31A5, SPATA31A7 (R710G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168440	NC_000009.12:g.60918594C>G	SPATA31A5, SPATA31A7 (S713W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168441	NC_000009.12:g.60918618C>A	SPATA31A5, SPATA31A7 (T721K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168448	NC_000009.12:g.60919964A>T	SPATA31A5, SPATA31A7 (I1170F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168449	NC_000009.12:g.60920048C>T	SPATA31A5, SPATA31A7 (R1212C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168450	NC_000009.12:g.60920111=	SPATA31A5, SPATA31A7 (K1233E)	Variation (missense variant +1 more)	not specified	GLikely benign
Select item 3168451	NC_000009.12:g.60920123C>T	SPATA31A5, SPATA31A7 (L1223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552122	NC_000009.12:g.60920138C>T	SPATA31A5, SPATA31A7 (H1228Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168452	NC_000009.12:g.60920190G>A	SPATA31A5, SPATA31A7 (G1245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168453	NC_000009.12:g.60920249G>A	SPATA31A5, SPATA31A7 (A1279T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168425	NM_015667.2(SPATA31A7):c.202C>T (p.Arg68Trp)	SPATA31A7 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168426	NM_015667.2(SPATA31A7):c.203G>A (p.Arg68Gln)	SPATA31A7 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353255	NM_015667.2(SPATA31A7):c.221G>A (p.Gly74Asp)	SPATA31A7 (G74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554217	NM_015667.2(SPATA31A7):c.254G>A (p.Arg85Lys)	SPATA31A7 (R85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168443	NM_015667.2(SPATA31A7):c.279G>T (p.Glu93Asp)	SPATA31A7 (E93D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562537	NM_015667.2(SPATA31A7):c.286G>A (p.Asp96Asn)	SPATA31A7 (D96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168444	NM_015667.2(SPATA31A7):c.307A>G (p.Ser103Gly)	SPATA31A7 (S103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205976	NM_015667.2(SPATA31A7):c.631C>T (p.Pro211Ser)	SPATA31A7 (P211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472104	NM_015667.2(SPATA31A7):c.637C>T (p.Pro213Ser)	SPATA31A7 (P213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209370	NM_015667.2(SPATA31A7):c.667G>A (p.Gly223Ser)	SPATA31A7 (G223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353528	NM_015667.2(SPATA31A7):c.693C>A (p.Asp231Glu)	SPATA31A7 (D231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391483	NM_015667.2(SPATA31A7):c.748G>T (p.Val250Phe)	SPATA31A7 (V250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457493	NM_015667.2(SPATA31A7):c.784G>A (p.Ala262Thr)	SPATA31A7 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357065	NM_015667.2(SPATA31A7):c.836C>T (p.Ala279Val)	SPATA31A7 (A279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568121	NM_015667.2(SPATA31A7):c.859G>T (p.Ala287Ser)	SPATA31A7 (A287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260562	NM_015667.2(SPATA31A7):c.874G>A (p.Ala292Thr)	SPATA31A7 (A292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344334	NM_015667.2(SPATA31A7):c.889G>A (p.Val297Ile)	SPATA31A7 (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304981	NM_015667.2(SPATA31A7):c.896A>G (p.Gln299Arg)	SPATA31A7 (Q299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378163	NM_015667.2(SPATA31A7):c.899A>G (p.Asp300Gly)	SPATA31A7 (D300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384642	NM_015667.2(SPATA31A7):c.947G>A (p.Ser316Asn)	SPATA31A7 (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236636	NM_015667.2(SPATA31A7):c.967G>T (p.Asp323Tyr)	SPATA31A7 (D323Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321932	NM_015667.2(SPATA31A7):c.982G>A (p.Val328Met)	SPATA31A7 (V328M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168459	NM_015667.2(SPATA31A7):c.995T>A (p.Val332Asp)	SPATA31A7 (V332D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208421	NM_015667.2(SPATA31A7):c.1004C>G (p.Thr335Arg)	SPATA31A7 (T335R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490904	NM_015667.2(SPATA31A7):c.1015A>C (p.Asn339His)	SPATA31A7 (N339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168408	NM_015667.2(SPATA31A7):c.1123G>C (p.Asp375His)	SPATA31A7 (D375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262976	NM_015667.2(SPATA31A7):c.1130C>A (p.Thr377Lys)	SPATA31A7 (T377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321935	NM_015667.2(SPATA31A7):c.1142C>A (p.Pro381His)	SPATA31A7 (P381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404878	NM_015667.2(SPATA31A7):c.1166C>T (p.Ser389Leu)	SPATA31A7 (S389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168409	NM_015667.2(SPATA31A7):c.1174C>A (p.Leu392Met)	SPATA31A7 (L392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525880	NM_015667.2(SPATA31A7):c.1183C>A (p.Pro395Thr)	SPATA31A7 (P395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514238	NM_015667.2(SPATA31A7):c.1211G>T (p.Trp404Leu)	SPATA31A7 (W404L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480402	NM_015667.2(SPATA31A7):c.1219A>G (p.Ser407Gly)	SPATA31A7 (S407G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559456	NM_015667.2(SPATA31A7):c.1243C>A (p.Leu415Ile)	SPATA31A7 (L415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521243	NM_015667.2(SPATA31A7):c.1290C>A (p.Asn430Lys)	SPATA31A7 (N430K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392636	NM_015667.2(SPATA31A7):c.1291G>T (p.Ala431Ser)	SPATA31A7 (A431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353650	NM_015667.2(SPATA31A7):c.1291G>A (p.Ala431Thr)	SPATA31A7 (A431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402413	NM_015667.2(SPATA31A7):c.1613C>A (p.Pro538His)	SPATA31A7 (P538H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555293	NM_015667.2(SPATA31A7):c.1640T>C (p.Leu547Ser)	SPATA31A7 (L547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341913	NM_015667.2(SPATA31A7):c.1684G>T (p.Val562Phe)	SPATA31A7 (V562F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321931	NM_015667.2(SPATA31A7):c.1775G>C (p.Ser592Thr)	SPATA31A7 (S592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168419	NM_015667.2(SPATA31A7):c.1804C>A (p.His602Asn)	SPATA31A7 (H602N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393546	NM_015667.2(SPATA31A7):c.1834G>A (p.Gly612Ser)	SPATA31A7 (G612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168421	NM_015667.2(SPATA31A7):c.1844G>A (p.Gly615Glu)	SPATA31A7 (G615E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511758	NM_015667.2(SPATA31A7):c.1848G>T (p.Arg616Ser)	SPATA31A7 (R616S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515074	NM_015667.2(SPATA31A7):c.1879C>T (p.Arg627Trp)	SPATA31A7 (R627W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347468	NM_015667.2(SPATA31A7):c.1889C>T (p.Ser630Leu)	SPATA31A7 (S630L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321937	NM_015667.2(SPATA31A7):c.1915A>G (p.Lys639Glu)	SPATA31A7 (K639E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321934	NM_015667.2(SPATA31A7):c.1958G>A (p.Ser653Asn)	SPATA31A7 (S653N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321936	NM_015667.2(SPATA31A7):c.2031G>C (p.Glu677Asp)	SPATA31A7 (E677D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543977	NM_015667.2(SPATA31A7):c.2032A>G (p.Thr678Ala)	SPATA31A7 (T678A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525885	NM_015667.2(SPATA31A7):c.2033C>A (p.Thr678Asn)	SPATA31A7 (T678N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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