ClinVar for Gene (Select 389763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321956	NM_001001670.3(SPATA31D1):c.842A>G (p.Asp281Gly)	SPATA31D1 (D281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321955	NM_001001670.3(SPATA31D1):c.2777T>C (p.Ile926Thr)	SPATA31D1 (I926T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321954	NM_001001670.3(SPATA31D1):c.2153A>G (p.Lys718Arg)	SPATA31D1 (K718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321953	NM_001001670.3(SPATA31D1):c.1619T>C (p.Ile540Thr)	SPATA31D1 (I540T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321952	NM_001001670.3(SPATA31D1):c.2823T>G (p.His941Gln)	SPATA31D1 (H941Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321951	NM_001001670.3(SPATA31D1):c.373T>C (p.Cys125Arg)	SPATA31D1 (C125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321950	NM_001001670.3(SPATA31D1):c.1078C>A (p.Gln360Lys)	SPATA31D1 (Q360K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321949	NM_001001670.3(SPATA31D1):c.2827G>T (p.Asp943Tyr)	SPATA31D1 (D943Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321948	NM_001001670.3(SPATA31D1):c.2897G>T (p.Arg966Leu)	SPATA31D1 (R966L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321947	NM_001001670.3(SPATA31D1):c.764G>A (p.Arg255Lys)	SPATA31D1 (R255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321946	NM_001001670.3(SPATA31D1):c.3651A>T (p.Gln1217His)	SPATA31D1 (Q1217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321945	NM_001001670.3(SPATA31D1):c.3529A>G (p.Ser1177Gly)	SPATA31D1 (S1177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321944	NM_001001670.3(SPATA31D1):c.4250T>C (p.Leu1417Pro)	SPATA31D1 (L1417P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321943	NM_001001670.3(SPATA31D1):c.3946C>T (p.Arg1316Cys)	SPATA31D1 (R1316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321942	NM_001001670.3(SPATA31D1):c.1492C>A (p.Gln498Lys)	SPATA31D1 (Q498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321941	NM_001001670.3(SPATA31D1):c.2957C>G (p.Pro986Arg)	SPATA31D1 (P986R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321940	NM_001001670.3(SPATA31D1):c.4084A>C (p.Asn1362His)	SPATA31D1 (N1362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321939	NM_001001670.3(SPATA31D1):c.4157A>G (p.Gln1386Arg)	SPATA31D1 (Q1386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321938	NM_001001670.3(SPATA31D1):c.862C>A (p.Pro288Thr)	SPATA31D1 (P288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168512	NM_001001670.3(SPATA31D1):c.865A>G (p.Ile289Val)	SPATA31D1 (I289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168510	NM_001001670.3(SPATA31D1):c.710A>C (p.His237Pro)	SPATA31D1 (H237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168509	NM_001001670.3(SPATA31D1):c.709C>T (p.His237Tyr)	SPATA31D1 (H237Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168508	NM_001001670.3(SPATA31D1):c.4595G>A (p.Arg1532Gln)	SPATA31D1 (R1532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168507	NM_001001670.3(SPATA31D1):c.4594C>T (p.Arg1532Trp)	SPATA31D1 (R1532W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168506	NM_001001670.3(SPATA31D1):c.4501A>G (p.Lys1501Glu)	SPATA31D1 (K1501E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168505	NM_001001670.3(SPATA31D1):c.4422C>G (p.Cys1474Trp)	SPATA31D1 (C1474W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168504	NM_001001670.3(SPATA31D1):c.4310G>A (p.Gly1437Glu)	SPATA31D1 (G1437E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168501	NM_001001670.3(SPATA31D1):c.4238T>C (p.Leu1413Pro)	SPATA31D1 (L1413P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168500	NM_001001670.3(SPATA31D1):c.4225A>G (p.Thr1409Ala)	SPATA31D1 (T1409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168499	NM_001001670.3(SPATA31D1):c.41C>G (p.Thr14Arg)	SPATA31D1 (T14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168498	NM_001001670.3(SPATA31D1):c.4080G>C (p.Trp1360Cys)	SPATA31D1 (W1360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168497	NM_001001670.3(SPATA31D1):c.3844T>C (p.Cys1282Arg)	SPATA31D1 (C1282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168496	NM_001001670.3(SPATA31D1):c.3748G>C (p.Gly1250Arg)	SPATA31D1 (G1250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168495	NM_001001670.3(SPATA31D1):c.3649C>A (p.Gln1217Lys)	SPATA31D1 (Q1217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168493	NM_001001670.3(SPATA31D1):c.357C>A (p.His119Gln)	SPATA31D1 (H119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168492	NM_001001670.3(SPATA31D1):c.356A>T (p.His119Leu)	SPATA31D1 (H119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168491	NM_001001670.3(SPATA31D1):c.3242C>A (p.Thr1081Lys)	SPATA31D1 (T1081K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168490	NM_001001670.3(SPATA31D1):c.320C>T (p.Ser107Phe)	SPATA31D1 (S107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168489	NM_001001670.3(SPATA31D1):c.319T>A (p.Ser107Thr)	SPATA31D1 (S107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168488	NM_001001670.3(SPATA31D1):c.3122G>C (p.Ser1041Thr)	SPATA31D1 (S1041T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168487	NM_001001670.3(SPATA31D1):c.311C>T (p.Pro104Leu)	SPATA31D1 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168486	NM_001001670.3(SPATA31D1):c.3056A>G (p.Asp1019Gly)	SPATA31D1 (D1019G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168485	NM_001001670.3(SPATA31D1):c.301A>G (p.Ser101Gly)	SPATA31D1 (S101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168484	NM_001001670.3(SPATA31D1):c.2996G>A (p.Gly999Glu)	SPATA31D1 (G999E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168483	NM_001001670.3(SPATA31D1):c.2867C>A (p.Ser956Tyr)	SPATA31D1 (S956Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168482	NM_001001670.3(SPATA31D1):c.2858A>T (p.Gln953Leu)	SPATA31D1 (Q953L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168481	NM_001001670.3(SPATA31D1):c.2810C>A (p.Thr937Asn)	SPATA31D1 (T937N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168480	NM_001001670.3(SPATA31D1):c.2764G>T (p.Val922Phe)	SPATA31D1 (V922F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168479	NM_001001670.3(SPATA31D1):c.2707T>A (p.Leu903Met)	SPATA31D1 (L903M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168478	NM_001001670.3(SPATA31D1):c.2551C>G (p.His851Asp)	SPATA31D1 (H851D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168477	NM_001001670.3(SPATA31D1):c.2455G>A (p.Val819Met)	SPATA31D1 (V819M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168476	NM_001001670.3(SPATA31D1):c.2365C>A (p.Pro789Thr)	SPATA31D1 (P789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168475	NM_001001670.3(SPATA31D1):c.2341C>G (p.Pro781Ala)	SPATA31D1 (P781A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168474	NM_001001670.3(SPATA31D1):c.2308G>T (p.Gly770Trp)	SPATA31D1 (G770W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168473	NM_001001670.3(SPATA31D1):c.2140C>T (p.Arg714Cys)	SPATA31D1 (R714C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168472	NM_001001670.3(SPATA31D1):c.1952G>A (p.Cys651Tyr)	SPATA31D1 (C651Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168471	NM_001001670.3(SPATA31D1):c.1921T>A (p.Ser641Thr)	SPATA31D1 (S641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168470	NM_001001670.3(SPATA31D1):c.1887G>T (p.Leu629Phe)	SPATA31D1 (L629F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168469	NM_001001670.3(SPATA31D1):c.16T>C (p.Cys6Arg)	SPATA31D1 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168467	NM_001001670.3(SPATA31D1):c.1580C>T (p.Ser527Phe)	SPATA31D1 (S527F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168466	NM_001001670.3(SPATA31D1):c.1574A>G (p.His525Arg)	SPATA31D1 (H525R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168465	NM_001001670.3(SPATA31D1):c.1555G>A (p.Val519Ile)	SPATA31D1 (V519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168464	NM_001001670.3(SPATA31D1):c.1456C>T (p.Pro486Ser)	SPATA31D1 (P486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168463	NM_001001670.3(SPATA31D1):c.1439A>T (p.Gln480Leu)	SPATA31D1 (Q480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168462	NM_001001670.3(SPATA31D1):c.1398A>T (p.Glu466Asp)	SPATA31D1 (E466D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168461	NM_001001670.3(SPATA31D1):c.1190A>G (p.Asn397Ser)	SPATA31D1 (N397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168460	NM_001001670.3(SPATA31D1):c.1139T>G (p.Leu380Arg)	SPATA31D1 (L380R)	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 3024789	NM_001001670.3(SPATA31D1):c.3515C>T (p.Thr1172Ile)	SPATA31D1 (T1172I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024743	NM_001001670.3(SPATA31D1):c.3864A>T (p.Pro1288=)	SPATA31D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659278	NM_001001670.3(SPATA31D1):c.3607C>A (p.Gln1203Lys)	SPATA31D1 (Q1203K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659277	NM_001001670.3(SPATA31D1):c.2141G>A (p.Arg714His)	SPATA31D1 (R714H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2659276	NM_001001670.3(SPATA31D1):c.1998C>G (p.Val666=)	SPATA31D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659275	NM_001001670.3(SPATA31D1):c.1963C>A (p.Pro655Thr)	SPATA31D1 (P655T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659274	NM_001001670.3(SPATA31D1):c.1961C>G (p.Ala654Gly)	SPATA31D1 (A654G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623356	NM_001001670.3(SPATA31D1):c.3617G>A (p.Ser1206Asn)	SPATA31D1 (S1206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617843	NM_001001670.3(SPATA31D1):c.4550C>T (p.Ser1517Phe)	SPATA31D1 (S1517F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610430	NM_001001670.3(SPATA31D1):c.3776T>C (p.Leu1259Ser)	SPATA31D1 (L1259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603793	NM_001001670.3(SPATA31D1):c.4012C>T (p.Pro1338Ser)	SPATA31D1 (P1338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598983	NM_001001670.3(SPATA31D1):c.2006C>T (p.Pro669Leu)	SPATA31D1 (P669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598204	NM_001001670.3(SPATA31D1):c.2534G>A (p.Arg845Gln)	SPATA31D1 (R845Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597914	NM_001001670.3(SPATA31D1):c.4503A>T (p.Lys1501Asn)	SPATA31D1 (K1501N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596370	NM_001001670.3(SPATA31D1):c.66G>T (p.Trp22Cys)	SPATA31D1 (W22C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595757	NM_001001670.3(SPATA31D1):c.2110C>T (p.Arg704Cys)	SPATA31D1 (R704C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595009	NM_001001670.3(SPATA31D1):c.3805A>C (p.Lys1269Gln)	SPATA31D1 (K1269Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592931	NM_001001670.3(SPATA31D1):c.3767A>T (p.His1256Leu)	SPATA31D1 (H1256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592326	NM_001001670.3(SPATA31D1):c.133G>A (p.Val45Met)	SPATA31D1 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589423	NM_001001670.3(SPATA31D1):c.1751C>T (p.Pro584Leu)	SPATA31D1 (P584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589082	NM_001001670.3(SPATA31D1):c.402G>C (p.Lys134Asn)	SPATA31D1 (K134N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551137	NM_001001670.3(SPATA31D1):c.2621G>A (p.Arg874Gln)	SPATA31D1 (R874Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547980	NM_001001670.3(SPATA31D1):c.931G>T (p.Val311Leu)	SPATA31D1 (V311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544847	NM_001001670.3(SPATA31D1):c.2885A>G (p.Lys962Arg)	SPATA31D1 (K962R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542186	NM_001001670.3(SPATA31D1):c.3404A>G (p.His1135Arg)	SPATA31D1 (H1135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541231	NM_001001670.3(SPATA31D1):c.3272C>T (p.Pro1091Leu)	SPATA31D1 (P1091L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537775	NM_001001670.3(SPATA31D1):c.3889G>T (p.Val1297Leu)	SPATA31D1 (V1297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530594	NM_001001670.3(SPATA31D1):c.4621G>C (p.Ala1541Pro)	SPATA31D1 (A1541P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520537	NM_001001670.3(SPATA31D1):c.2360A>C (p.His787Pro)	SPATA31D1 (H787P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518995	NM_001001670.3(SPATA31D1):c.2383A>G (p.Lys795Glu)	SPATA31D1 (K795E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518928	NM_001001670.3(SPATA31D1):c.3967G>T (p.Val1323Phe)	SPATA31D1 (V1323F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514573	NM_001001670.3(SPATA31D1):c.4474A>C (p.Ile1492Leu)	SPATA31D1 (I1492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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