SPATA31D1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 2248026	NM_001001670.3(SPATA31D1):c.13C>T (p.Leu5Phe)	SPATA31D1 (L5F)	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 3168499	NM_001001670.3(SPATA31D1):c.41C>G (p.Thr14Arg)	SPATA31D1 (T14R)	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 2592326	NM_001001670.3(SPATA31D1):c.133G>A (p.Val45Met)	SPATA31D1 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324503	NM_001001670.3(SPATA31D1):c.143C>T (p.Thr48Ile)	SPATA31D1 (T48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383447	NM_001001670.3(SPATA31D1):c.152C>T (p.Ser51Leu)	SPATA31D1 (S51L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2284020	NM_001001670.3(SPATA31D1):c.307G>A (p.Gly103Arg)	SPATA31D1 (G103R)	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 3168489	NM_001001670.3(SPATA31D1):c.319T>A (p.Ser107Thr)	SPATA31D1 (S107T)	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 2513767	NM_001001670.3(SPATA31D1):c.331C>T (p.Arg111Trp)	SPATA31D1 (R111W)	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 3168493	NM_001001670.3(SPATA31D1):c.357C>A (p.His119Gln)	SPATA31D1 (H119Q)	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 2589082	NM_001001670.3(SPATA31D1):c.402G>C (p.Lys134Asn)	SPATA31D1 (K134N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316741	NM_001001670.3(SPATA31D1):c.458C>T (p.Ala153Val)	SPATA31D1 (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512135	NM_001001670.3(SPATA31D1):c.565C>T (p.Arg189Trp)	SPATA31D1 (R189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230900	NM_001001670.3(SPATA31D1):c.574G>A (p.Ala192Thr)	SPATA31D1 (A192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209075	NM_001001670.3(SPATA31D1):c.589C>G (p.Pro197Ala)	SPATA31D1 (P197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485798	NM_001001670.3(SPATA31D1):c.641C>T (p.Pro214Leu)	SPATA31D1 (P214L)	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 3168510	NM_001001670.3(SPATA31D1):c.710A>C (p.His237Pro)	SPATA31D1 (H237P)	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 2483252	NM_001001670.3(SPATA31D1):c.776G>T (p.Ser259Ile)	SPATA31D1 (S259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252194	NM_001001670.3(SPATA31D1):c.790G>T (p.Ala264Ser)	SPATA31D1 (A264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2466250	NM_001001670.3(SPATA31D1):c.854C>T (p.Ala285Val)	SPATA31D1 (A285V)	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 2381302	NM_001001670.3(SPATA31D1):c.868G>A (p.Asp290Asn)	SPATA31D1 (D290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404649	NM_001001670.3(SPATA31D1):c.881G>A (p.Arg294His)	SPATA31D1 (R294H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404650	NM_001001670.3(SPATA31D1):c.890G>A (p.Gly297Glu)	SPATA31D1 (G297E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2265747	NM_001001670.3(SPATA31D1):c.981G>C (p.Met327Ile)	SPATA31D1 (M327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360630	NM_001001670.3(SPATA31D1):c.1003G>A (p.Gly335Arg)	SPATA31D1 (G335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243468	NM_001001670.3(SPATA31D1):c.1012A>C (p.Thr338Pro)	SPATA31D1 (T338P)	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 2282312	NM_001001670.3(SPATA31D1):c.1114G>C (p.Val372Leu)	SPATA31D1 (V372L)	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 2475590	NM_001001670.3(SPATA31D1):c.1161G>C (p.Glu387Asp)	SPATA31D1 (E387D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268442	NM_001001670.3(SPATA31D1):c.1177C>T (p.His393Tyr)	SPATA31D1 (H393Y)	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 2327954	NM_001001670.3(SPATA31D1):c.1352C>T (p.Ser451Leu)	SPATA31D1 (S451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457345	NM_001001670.3(SPATA31D1):c.1373T>C (p.Ile458Thr)	SPATA31D1 (I458T)	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 2300974	NM_001001670.3(SPATA31D1):c.1400C>G (p.Ser467Cys)	SPATA31D1 (S467C)	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 3168464	NM_001001670.3(SPATA31D1):c.1456C>T (p.Pro486Ser)	SPATA31D1 (P486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367418	NM_001001670.3(SPATA31D1):c.1478A>G (p.Glu493Gly)	SPATA31D1 (E493G)	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 3168465	NM_001001670.3(SPATA31D1):c.1555G>A (p.Val519Ile)	SPATA31D1 (V519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465316	NM_001001670.3(SPATA31D1):c.1558C>T (p.Leu520Phe)	SPATA31D1 (L520F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513465	NM_001001670.3(SPATA31D1):c.1568G>A (p.Arg523His)	SPATA31D1 (R523H)	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 3168467	NM_001001670.3(SPATA31D1):c.1580C>T (p.Ser527Phe)	SPATA31D1 (S527F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276358	NM_001001670.3(SPATA31D1):c.1585T>C (p.Phe529Leu)	SPATA31D1 (F529L)	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 2227364	NM_001001670.3(SPATA31D1):c.1620A>G (p.Ile540Met)	SPATA31D1 (I540M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350861	NM_001001670.3(SPATA31D1):c.1622C>T (p.Ser541Phe)	SPATA31D1 (S541F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464989	NM_001001670.3(SPATA31D1):c.1636G>C (p.Val546Leu)	SPATA31D1 (V546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398749	NM_001001670.3(SPATA31D1):c.1691C>G (p.Pro564Arg)	SPATA31D1 (P564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263470	NM_001001670.3(SPATA31D1):c.1723C>T (p.Leu575Phe)	SPATA31D1 (L575F)	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 2260916	NM_001001670.3(SPATA31D1):c.1765C>G (p.Arg589Gly)	SPATA31D1 (R589G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405799	NM_001001670.3(SPATA31D1):c.1840C>T (p.Arg614Trp)	SPATA31D1 (R614W)	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 2457616	NM_001001670.3(SPATA31D1):c.1906T>G (p.Leu636Val)	SPATA31D1 (L636V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3168472	NM_001001670.3(SPATA31D1):c.1952G>A (p.Cys651Tyr)	SPATA31D1 (C651Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2659275	NM_001001670.3(SPATA31D1):c.1963C>A (p.Pro655Thr)	SPATA31D1 (P655T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659276	NM_001001670.3(SPATA31D1):c.1998C>G (p.Val666=)	SPATA31D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2288093	NM_001001670.3(SPATA31D1):c.2038A>G (p.Ser680Gly)	SPATA31D1 (S680G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2403459	NM_001001670.3(SPATA31D1):c.2111G>A (p.Arg704His)	SPATA31D1 (R704H)	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 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 3321954	NM_001001670.3(SPATA31D1):c.2153A>G (p.Lys718Arg)	SPATA31D1 (K718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480739	NM_001001670.3(SPATA31D1):c.2230G>A (p.Val744Ile)	SPATA31D1 (V744I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407610	NM_001001670.3(SPATA31D1):c.2294C>T (p.Ser765Phe)	SPATA31D1 (S765F)	Single nucleotide variant (missense variant)	not provided +1 more	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 2374612	NM_001001670.3(SPATA31D1):c.2324A>G (p.Tyr775Cys)	SPATA31D1 (Y775C)	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 2223275	NM_001001670.3(SPATA31D1):c.2351A>T (p.His784Leu)	SPATA31D1 (H784L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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