SPATA31A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
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 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 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 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 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 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 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 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 148718	GRCh38/hg38 9p13.3-q21.11(chr9:41747162-67217006)x3	ANKRD20A4-ANKRD20A20P, CNTNAP3B +50 more	Copy number gain	See cases	GPathogenic
Select item 153098	GRCh38/hg38 9q12-21.11(chr9:61053889-67217006)x1	ANKRD20A4-ANKRD20A20P, CNTNAP3C +39 more	Copy number loss	See cases	GBenign
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 2391355	NM_001083124.1(SPATA31A3):c.3959C>A (p.Pro1320His)	SPATA31A3 (P1320H)	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 2204022	NM_001083124.1(SPATA31A3):c.3862C>A (p.Gln1288Lys)	SPATA31A3 (Q1288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289700	NM_001083124.1(SPATA31A3):c.3853A>G (p.Ile1285Val)	SPATA31A3 (I1285V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2248957	NM_001083124.1(SPATA31A3):c.3740C>T (p.Pro1247Leu)	SPATA31A3 (P1247L)	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 2355492	NM_001083124.1(SPATA31A3):c.3722C>A (p.Ala1241Asp)	SPATA31A3 (A1241D)	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 2521205	NM_001083124.1(SPATA31A3):c.3705C>G (p.His1235Gln)	SPATA31A3 (H1235Q)	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 2460482	NM_001083124.1(SPATA31A3):c.3677C>T (p.Ala1226Val)	SPATA31A3 (A1226V)	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 2516016	NM_001083124.1(SPATA31A3):c.3632C>T (p.Thr1211Met)	SPATA31A3 (T1211M)	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 2271227	NM_001083124.1(SPATA31A3):c.3560C>A (p.Ala1187Asp)	SPATA31A3 (A1187D)	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 3168359	NM_001083124.1(SPATA31A3):c.3473C>T (p.Pro1158Leu)	SPATA31A3 (P1158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219451	NM_001083124.1(SPATA31A3):c.3452T>A (p.Leu1151Gln)	SPATA31A3 (L1151Q)	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 2344245	NM_001083124.1(SPATA31A3):c.3270A>C (p.Lys1090Asn)	SPATA31A3 (K1090N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2351692	NM_001083124.1(SPATA31A3):c.3227T>G (p.Met1076Arg)	SPATA31A3 (M1076R)	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 2509202	NM_001083124.1(SPATA31A3):c.3200G>A (p.Arg1067Gln)	SPATA31A3 (R1067Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2394176	NM_001083124.1(SPATA31A3):c.3179G>T (p.Ser1060Ile)	SPATA31A3 (S1060I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3321902	NM_001083124.1(SPATA31A3):c.3157G>A (p.Val1053Met)	SPATA31A3 (V1053M)	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 2292116	NM_001083124.1(SPATA31A3):c.3091G>C (p.Val1031Leu)	SPATA31A3 (V1031L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2485366	NM_001083124.1(SPATA31A3):c.2999C>A (p.Pro1000Gln)	SPATA31A3 (P1000Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271475	NM_001083124.1(SPATA31A3):c.2971C>T (p.His991Tyr)	SPATA31A3 (H991Y)	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 2343899	NM_001083124.1(SPATA31A3):c.2944G>A (p.Ala982Thr)	SPATA31A3 (A982T)	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 2238617	NM_001083124.1(SPATA31A3):c.2917A>G (p.Thr973Ala)	SPATA31A3 (T973A)	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 2343794	NM_001083124.1(SPATA31A3):c.2891C>T (p.Thr964Ile)	SPATA31A3 (T964I)	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 3321899	NM_001083124.1(SPATA31A3):c.2867C>A (p.Pro956Gln)	SPATA31A3 (P956Q)	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 2346920	NM_001083124.1(SPATA31A3):c.2738C>T (p.Pro913Leu)	SPATA31A3 (P913L)	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 2336686	NM_001083124.1(SPATA31A3):c.2695C>T (p.Pro899Ser)	SPATA31A3 (P899S)	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 3168355	NM_001083124.1(SPATA31A3):c.2671G>A (p.Ala891Thr)	SPATA31A3 (A891T)	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 3168354	NM_001083124.1(SPATA31A3):c.2585G>A (p.Arg862Lys)	SPATA31A3 (R862K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263405	NM_001083124.1(SPATA31A3):c.2449C>T (p.Leu817Phe)	SPATA31A3 (L817F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277130	NM_001083124.1(SPATA31A3):c.2377G>A (p.Glu793Lys)	SPATA31A3 (E793K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285670	NM_001083124.1(SPATA31A3):c.2374C>G (p.Leu792Val)	SPATA31A3 (L792V)	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 2285266	NM_001083124.1(SPATA31A3):c.2299C>T (p.His767Tyr)	SPATA31A3 (H767Y)	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 2516268	NM_001083124.1(SPATA31A3):c.2102T>C (p.Leu701Ser)	SPATA31A3 (L701S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239129	NM_001083124.1(SPATA31A3):c.2089A>G (p.Thr697Ala)	SPATA31A3 (T697A)	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 3168352	NM_001083124.1(SPATA31A3):c.2071C>T (p.Arg691Trp)	SPATA31A3 (R691W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2659209	NM_001083124.1(SPATA31A3):c.1885G>A (p.Glu629Lys)	SPATA31A3 (E629K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2246401	NM_001083124.1(SPATA31A3):c.1828C>A (p.His610Asn)	SPATA31A3 (H610N)	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 2601994	NM_001083124.1(SPATA31A3):c.1729C>A (p.Pro577Thr)	SPATA31A3 (P577T)	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 3168349	NM_001083124.1(SPATA31A3):c.1657G>A (p.Glu553Lys)	SPATA31A3 (E553K)	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 2285845	NM_001083124.1(SPATA31A3):c.1442C>A (p.Pro481His)	SPATA31A3 (P481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227059	NM_001083124.1(SPATA31A3):c.1306A>G (p.Arg436Gly)	SPATA31A3 (R436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288890	NM_001083124.1(SPATA31A3):c.1297G>T (p.Val433Leu)	SPATA31A3 (V433L)	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 2217688	NM_001083124.1(SPATA31A3):c.1042G>A (p.Gly348Arg)	SPATA31A3 (G348R)	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 2233560	NM_001083124.1(SPATA31A3):c.1011G>C (p.Lys337Asn)	SPATA31A3 (K337N)	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 2410831	NM_001083124.1(SPATA31A3):c.980T>C (p.Val327Ala)	SPATA31A3 (V327A)	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

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