ClinVar for Gene (Select 727830) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321902	NM_001083124.1(SPATA31A3):c.3157G>A (p.Val1053Met)	SPATA31A3 (V1053M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321901	NM_001083124.1(SPATA31A3):c.900T>A (p.Asp300Glu)	SPATA31A3 (D300E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321900	NM_001083124.1(SPATA31A3):c.2072G>A (p.Arg691Gln)	SPATA31A3 (R691Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321899	NM_001083124.1(SPATA31A3):c.2867C>A (p.Pro956Gln)	SPATA31A3 (P956Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321898	NM_001083124.1(SPATA31A3):c.2701G>A (p.Gly901Arg)	SPATA31A3 (G901R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321897	NM_001083124.1(SPATA31A3):c.425T>A (p.Met142Lys)	SPATA31A3 (M142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321896	NM_001083124.1(SPATA31A3):c.3205T>C (p.Ser1069Pro)	SPATA31A3 (S1069P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321895	NM_001083124.1(SPATA31A3):c.3269A>G (p.Lys1090Arg)	SPATA31A3 (K1090R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321894	NM_001083124.1(SPATA31A3):c.689G>A (p.Arg230Gln)	SPATA31A3 (R230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321893	NM_001083124.1(SPATA31A3):c.3184C>T (p.Pro1062Ser)	SPATA31A3 (P1062S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168369	NM_001083124.1(SPATA31A3):c.925A>T (p.Thr309Ser)	SPATA31A3 (T309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168368	NM_001083124.1(SPATA31A3):c.631C>T (p.Pro211Ser)	SPATA31A3 (P211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168367	NM_001083124.1(SPATA31A3):c.505C>A (p.Pro169Thr)	SPATA31A3 (P169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168365	NM_001083124.1(SPATA31A3):c.3743G>C (p.Cys1248Ser)	SPATA31A3 (C1248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168363	NM_001083124.1(SPATA31A3):c.3697A>G (p.Asn1233Asp)	SPATA31A3 (N1233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168362	NM_001083124.1(SPATA31A3):c.367C>T (p.Pro123Ser)	SPATA31A3 (P123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168361	NM_001083124.1(SPATA31A3):c.365C>T (p.Pro122Leu)	SPATA31A3 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168360	NM_001083124.1(SPATA31A3):c.3645A>T (p.Gln1215His)	SPATA31A3 (Q1215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168359	NM_001083124.1(SPATA31A3):c.3473C>T (p.Pro1158Leu)	SPATA31A3 (P1158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168357	NM_001083124.1(SPATA31A3):c.2947C>G (p.Pro983Ala)	SPATA31A3 (P983A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168356	NM_001083124.1(SPATA31A3):c.2929G>A (p.Val977Met)	SPATA31A3 (V977M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168355	NM_001083124.1(SPATA31A3):c.2671G>A (p.Ala891Thr)	SPATA31A3 (A891T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168354	NM_001083124.1(SPATA31A3):c.2585G>A (p.Arg862Lys)	SPATA31A3 (R862K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168352	NM_001083124.1(SPATA31A3):c.2071C>T (p.Arg691Trp)	SPATA31A3 (R691W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168351	NM_001083124.1(SPATA31A3):c.2035C>T (p.Pro679Ser)	SPATA31A3 (P679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168350	NM_001083124.1(SPATA31A3):c.1999C>A (p.Pro667Thr)	SPATA31A3 (P667T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168349	NM_001083124.1(SPATA31A3):c.1657G>A (p.Glu553Lys)	SPATA31A3 (E553K)	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 3025529	NM_001083124.1(SPATA31A3):c.465G>A (p.Pro155=)	SPATA31A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659210	NM_001083124.1(SPATA31A3):c.3171T>A (p.His1057Gln)	SPATA31A3 (H1057Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659209	NM_001083124.1(SPATA31A3):c.1885G>A (p.Glu629Lys)	SPATA31A3 (E629K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619384	NM_001083124.1(SPATA31A3):c.644C>T (p.Ala215Val)	SPATA31A3 (A215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609294	NM_001083124.1(SPATA31A3):c.234C>A (p.Asn78Lys)	SPATA31A3 (N78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607803	NM_001083124.1(SPATA31A3):c.400G>A (p.Ala134Thr)	SPATA31A3 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601994	NM_001083124.1(SPATA31A3):c.1729C>A (p.Pro577Thr)	SPATA31A3 (P577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598318	NM_001083124.1(SPATA31A3):c.551C>A (p.Ser184Tyr)	SPATA31A3 (S184Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595465	NM_001083124.1(SPATA31A3):c.3620A>G (p.Gln1207Arg)	SPATA31A3 (Q1207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558926	NM_001083124.1(SPATA31A3):c.2867C>T (p.Pro956Leu)	SPATA31A3 (P956L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555988	NM_001083124.1(SPATA31A3):c.213G>T (p.Arg71Ser)	SPATA31A3 (R71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539609	NM_001083124.1(SPATA31A3):c.911G>A (p.Arg304His)	SPATA31A3 (R304H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526739	NM_001083124.1(SPATA31A3):c.527C>A (p.Thr176Asn)	SPATA31A3 (T176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521205	NM_001083124.1(SPATA31A3):c.3705C>G (p.His1235Gln)	SPATA31A3 (H1235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516268	NM_001083124.1(SPATA31A3):c.2102T>C (p.Leu701Ser)	SPATA31A3 (L701S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516016	NM_001083124.1(SPATA31A3):c.3632C>T (p.Thr1211Met)	SPATA31A3 (T1211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513600	NM_001083124.1(SPATA31A3):c.2878G>C (p.Val960Leu)	SPATA31A3 (V960L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509202	NM_001083124.1(SPATA31A3):c.3200G>A (p.Arg1067Gln)	SPATA31A3 (R1067Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489068	NM_001083124.1(SPATA31A3):c.2055T>A (p.Asp685Glu)	SPATA31A3 (D685E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486444	NM_001083124.1(SPATA31A3):c.3389C>A (p.Thr1130Asn)	SPATA31A3 (T1130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485366	NM_001083124.1(SPATA31A3):c.2999C>A (p.Pro1000Gln)	SPATA31A3 (P1000Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484149	NM_001083124.1(SPATA31A3):c.2674T>C (p.Trp892Arg)	SPATA31A3 (W892R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483400	NM_001083124.1(SPATA31A3):c.2915C>T (p.Ala972Val)	SPATA31A3 (A972V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481233	NM_001083124.1(SPATA31A3):c.3724C>G (p.Pro1242Ala)	SPATA31A3 (P1242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477079	NM_001083124.1(SPATA31A3):c.208C>T (p.Arg70Trp)	SPATA31A3 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472427	NM_001083124.1(SPATA31A3):c.1039G>A (p.Val347Ile)	SPATA31A3 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470387	NM_001083124.1(SPATA31A3):c.3711G>T (p.Gln1237His)	SPATA31A3 (Q1237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469880	NM_001083124.1(SPATA31A3):c.2599G>A (p.Ala867Thr)	SPATA31A3 (A867T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464593	NM_001083124.1(SPATA31A3):c.874G>C (p.Ala292Pro)	SPATA31A3 (A292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463011	NM_001083124.1(SPATA31A3):c.607C>G (p.Leu203Val)	SPATA31A3 (L203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462815	NM_001083124.1(SPATA31A3):c.934A>T (p.Met312Leu)	SPATA31A3 (M312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460482	NM_001083124.1(SPATA31A3):c.3677C>T (p.Ala1226Val)	SPATA31A3 (A1226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457932	NM_001083124.1(SPATA31A3):c.1105T>C (p.Ser369Pro)	SPATA31A3 (S369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457815	NM_001083124.1(SPATA31A3):c.3883C>T (p.Arg1295Trp)	SPATA31A3 (R1295W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457189	NM_001083124.1(SPATA31A3):c.785C>T (p.Ala262Val)	SPATA31A3 (A262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411665	NM_001083124.1(SPATA31A3):c.4036G>A (p.Gly1346Ser)	SPATA31A3 (G1346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410831	NM_001083124.1(SPATA31A3):c.980T>C (p.Val327Ala)	SPATA31A3 (V327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407945	NM_001083124.1(SPATA31A3):c.2226C>G (p.Asn742Lys)	SPATA31A3 (N742K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402398	NM_001083124.1(SPATA31A3):c.44C>T (p.Ser15Leu)	SPATA31A3 (S15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401506	NM_001083124.1(SPATA31A3):c.1807A>G (p.Ile603Val)	SPATA31A3 (I603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394176	NM_001083124.1(SPATA31A3):c.3179G>T (p.Ser1060Ile)	SPATA31A3 (S1060I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392094	NM_001083124.1(SPATA31A3):c.202C>T (p.Arg68Trp)	SPATA31A3 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391355	NM_001083124.1(SPATA31A3):c.3959C>A (p.Pro1320His)	SPATA31A3 (P1320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385223	NM_001083124.1(SPATA31A3):c.421C>A (p.Pro141Thr)	SPATA31A3 (P141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381028	NM_001083124.1(SPATA31A3):c.1468C>T (p.Arg490Trp)	SPATA31A3 (R490W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380107	NM_001083124.1(SPATA31A3):c.363C>A (p.Asp121Glu)	SPATA31A3 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377012	NM_001083124.1(SPATA31A3):c.704T>C (p.Ile235Thr)	SPATA31A3 (I235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373548	NM_001083124.1(SPATA31A3):c.464C>T (p.Pro155Leu)	SPATA31A3 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365732	NM_001083124.1(SPATA31A3):c.395A>T (p.Asp132Val)	SPATA31A3 (D132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362786	NM_001083124.1(SPATA31A3):c.3491G>T (p.Gly1164Val)	SPATA31A3 (G1164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356821	NM_001083124.1(SPATA31A3):c.355G>C (p.Gly119Arg)	SPATA31A3 (G119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355492	NM_001083124.1(SPATA31A3):c.3722C>A (p.Ala1241Asp)	SPATA31A3 (A1241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353704	NM_001083124.1(SPATA31A3):c.310C>T (p.Leu104Phe)	SPATA31A3 (L104F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352196	NM_001083124.1(SPATA31A3):c.262C>T (p.Arg88Trp)	SPATA31A3 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352095	NM_001083124.1(SPATA31A3):c.577C>G (p.Leu193Val)	SPATA31A3 (L193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351692	NM_001083124.1(SPATA31A3):c.3227T>G (p.Met1076Arg)	SPATA31A3 (M1076R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347397	NM_001083124.1(SPATA31A3):c.3124G>A (p.Val1042Met)	SPATA31A3 (V1042M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346920	NM_001083124.1(SPATA31A3):c.2738C>T (p.Pro913Leu)	SPATA31A3 (P913L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346870	NM_001083124.1(SPATA31A3):c.335G>T (p.Gly112Val)	SPATA31A3 (G112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346182	NM_001083124.1(SPATA31A3):c.986G>T (p.Gly329Val)	SPATA31A3 (G329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344623	NM_001083124.1(SPATA31A3):c.917C>T (p.Pro306Leu)	SPATA31A3 (P306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344245	NM_001083124.1(SPATA31A3):c.3270A>C (p.Lys1090Asn)	SPATA31A3 (K1090N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344244	NM_001083124.1(SPATA31A3):c.3060G>C (p.Lys1020Asn)	SPATA31A3 (K1020N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343899	NM_001083124.1(SPATA31A3):c.2944G>A (p.Ala982Thr)	SPATA31A3 (A982T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343794	NM_001083124.1(SPATA31A3):c.2891C>T (p.Thr964Ile)	SPATA31A3 (T964I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337106	NM_001083124.1(SPATA31A3):c.693C>A (p.Asp231Glu)	SPATA31A3 (D231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336686	NM_001083124.1(SPATA31A3):c.2695C>T (p.Pro899Ser)	SPATA31A3 (P899S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323116	NM_001083124.1(SPATA31A3):c.1723A>T (p.Asn575Tyr)	SPATA31A3 (N575Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306933	NM_001083124.1(SPATA31A3):c.748G>A (p.Val250Ile)	SPATA31A3 (V250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305854	NM_001083124.1(SPATA31A3):c.422C>T (p.Pro141Leu)	SPATA31A3 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297725	NM_001083124.1(SPATA31A3):c.2327C>T (p.Pro776Leu)	SPATA31A3 (P776L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294705	NM_001083124.1(SPATA31A3):c.149G>A (p.Arg50His)	SPATA31A3 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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