ClinVar for Gene (Select 10615) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321787	NM_006461.4(SPAG5):c.2500C>T (p.Arg834Cys)	SPAG5 (R834C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321786	NM_006461.4(SPAG5):c.2149C>T (p.Arg717Cys)	SPAG5 (R717C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321785	NM_006461.4(SPAG5):c.3010G>A (p.Glu1004Lys)	SPAG5 (E1004K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321784	NM_006461.4(SPAG5):c.793C>A (p.Pro265Thr)	SPAG5 (P265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321783	NM_006461.4(SPAG5):c.2054A>C (p.Glu685Ala)	SPAG5 (E685A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321782	NM_006461.4(SPAG5):c.658A>G (p.Ser220Gly)	SPAG5 (S220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321781	NM_006461.4(SPAG5):c.3370G>T (p.Val1124Leu)	SPAG5 (V1124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321780	NM_006461.4(SPAG5):c.560C>T (p.Ala187Val)	SPAG5 (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321779	NM_006461.4(SPAG5):c.2167C>T (p.Arg723Trp)	SPAG5 (R723W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321778	NM_006461.4(SPAG5):c.1907G>A (p.Ser636Asn)	SPAG5 (S636N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321777	NM_006461.4(SPAG5):c.232T>G (p.Leu78Val)	SPAG5 (L78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321776	NM_006461.4(SPAG5):c.2362C>A (p.Gln788Lys)	SPAG5 (Q788K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321775	NM_006461.4(SPAG5):c.2194A>G (p.Met732Val)	SPAG5 (M732V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168083	NM_006461.4(SPAG5):c.650C>T (p.Ser217Phe)	SPAG5 (S217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168082	NM_006461.4(SPAG5):c.536G>C (p.Gly179Ala)	SPAG5 (G179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168080	NM_006461.4(SPAG5):c.502G>A (p.Asp168Asn)	SPAG5 (D168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168079	NM_006461.4(SPAG5):c.3469G>A (p.Glu1157Lys)	SPAG5 (E1157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168078	NM_006461.4(SPAG5):c.3409A>G (p.Met1137Val)	SPAG5 (M1137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168077	NM_006461.4(SPAG5):c.3226A>G (p.Thr1076Ala)	SPAG5 (T1076A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168076	NM_006461.4(SPAG5):c.3176T>C (p.Ile1059Thr)	SPAG5 (I1059T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168075	NM_006461.4(SPAG5):c.3145C>A (p.Gln1049Lys)	SPAG5 (Q1049K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168074	NM_006461.4(SPAG5):c.2983A>T (p.Ile995Phe)	SPAG5 (I995F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168073	NM_006461.4(SPAG5):c.2926A>G (p.Met976Val)	SPAG5 (M976V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168072	NM_006461.4(SPAG5):c.2599A>C (p.Thr867Pro)	SPAG5 (T867P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168071	NM_006461.4(SPAG5):c.2380A>G (p.Lys794Glu)	SPAG5 (K794E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168069	NM_006461.4(SPAG5):c.1826T>C (p.Phe609Ser)	SPAG5 (F609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168068	NM_006461.4(SPAG5):c.1723C>T (p.Leu575Phe)	SPAG5 (L575F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168067	NM_006461.4(SPAG5):c.169G>A (p.Gly57Arg)	SPAG5 (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168066	NM_006461.4(SPAG5):c.1529T>C (p.Ile510Thr)	SPAG5 (I510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168065	NM_006461.4(SPAG5):c.1470C>A (p.Ser490Arg)	SPAG5 (S490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168064	NM_006461.4(SPAG5):c.1343T>A (p.Leu448His)	SPAG5 (L448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168063	NM_006461.4(SPAG5):c.1327G>C (p.Val443Leu)	SPAG5 (V443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168062	NM_006461.4(SPAG5):c.131C>G (p.Pro44Arg)	SPAG5 (P44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168061	NM_006461.4(SPAG5):c.1108C>T (p.Arg370Trp)	SPAG5 (R370W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647590	NM_006461.4(SPAG5):c.132C>T (p.Pro44=)	SPAG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647589	NM_006461.4(SPAG5):c.686G>A (p.Arg229His)	SPAG5 (R229H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647588	NM_006461.4(SPAG5):c.765A>C (p.Ala255=)	SPAG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647587	NM_006461.4(SPAG5):c.1353G>A (p.Gln451=)	SPAG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618486	NM_006461.4(SPAG5):c.669T>G (p.Ser223Arg)	SPAG5 (S223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606455	NM_006461.4(SPAG5):c.842G>A (p.Arg281Lys)	SPAG5 (R281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602505	NM_006461.4(SPAG5):c.3526C>G (p.Pro1176Ala)	SPAG5 (P1176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601362	NM_006461.4(SPAG5):c.2168G>A (p.Arg723Gln)	SPAG5 (R723Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591768	NM_006461.4(SPAG5):c.1774G>A (p.Ala592Thr)	SPAG5 (A592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588218	NM_006461.4(SPAG5):c.1349G>T (p.Arg450Leu)	SPAG5 (R450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2568530	NM_006461.4(SPAG5):c.2886G>C (p.Glu962Asp)	SPAG5 (E962D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551454	NM_006461.4(SPAG5):c.649T>C (p.Ser217Pro)	SPAG5 (S217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547896	NM_006461.4(SPAG5):c.2006T>C (p.Leu669Pro)	SPAG5 (L669P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532018	NM_006461.4(SPAG5):c.3143T>C (p.Ile1048Thr)	SPAG5 (I1048T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510248	NM_006461.4(SPAG5):c.1282G>A (p.Ala428Thr)	SPAG5 (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475589	NM_006461.4(SPAG5):c.2837A>G (p.Lys946Arg)	SPAG5 (K946R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463306	NM_006461.4(SPAG5):c.3310A>G (p.Met1104Val)	SPAG5 (M1104V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458617	NM_006461.4(SPAG5):c.1060G>C (p.Val354Leu)	SPAG5 (V354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455744	NM_006461.4(SPAG5):c.3539G>C (p.Arg1180Thr)	SPAG5 (R1180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 2409397	NM_006461.4(SPAG5):c.644A>G (p.His215Arg)	SPAG5 (H215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408721	NM_006461.4(SPAG5):c.1078C>T (p.Arg360Cys)	SPAG5 (R360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404432	NM_006461.4(SPAG5):c.2783C>A (p.Ala928Glu)	SPAG5 (A928E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394114	NM_006461.4(SPAG5):c.1397C>T (p.Thr466Ile)	SPAG5 (T466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388221	NM_006461.4(SPAG5):c.2023C>G (p.Gln675Glu)	SPAG5 (Q675E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387545	NM_006461.4(SPAG5):c.1564C>G (p.Leu522Val)	SPAG5 (L522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382073	NM_006461.4(SPAG5):c.3238C>T (p.Arg1080Trp)	SPAG5 (R1080W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369297	NM_006461.4(SPAG5):c.715G>A (p.Ala239Thr)	SPAG5 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363318	NM_006461.4(SPAG5):c.524C>T (p.Ala175Val)	SPAG5 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358339	NM_006461.4(SPAG5):c.3320A>G (p.Asn1107Ser)	SPAG5 (N1107S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326948	NM_006461.4(SPAG5):c.3103T>C (p.Cys1035Arg)	SPAG5 (C1035R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321512	NM_006461.4(SPAG5):c.517G>A (p.Glu173Lys)	SPAG5 (E173K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309468	NM_006461.4(SPAG5):c.1613G>A (p.Arg538His)	SPAG5 (R538H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302408	NM_006461.4(SPAG5):c.659G>C (p.Ser220Thr)	SPAG5 (S220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287414	NM_006461.4(SPAG5):c.2093C>T (p.Ser698Phe)	SPAG5 (S698F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285601	NM_006461.4(SPAG5):c.1249C>G (p.Gln417Glu)	SPAG5 (Q417E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276701	NM_006461.4(SPAG5):c.2635G>A (p.Glu879Lys)	SPAG5 (E879K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275060	NM_006461.4(SPAG5):c.443G>A (p.Arg148His)	SPAG5 (R148H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263340	NM_006461.4(SPAG5):c.2595G>C (p.Glu865Asp)	SPAG5 (E865D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252193	NM_006461.4(SPAG5):c.2200A>G (p.Ser734Gly)	SPAG5 (S734G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244993	NM_006461.4(SPAG5):c.1198A>G (p.Thr400Ala)	SPAG5 (T400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230243	NM_006461.4(SPAG5):c.3371T>C (p.Val1124Ala)	SPAG5 (V1124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218754	NM_006461.4(SPAG5):c.2440C>T (p.His814Tyr)	SPAG5 (H814Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218585	NM_006461.4(SPAG5):c.230A>G (p.Asp77Gly)	SPAG5 (D77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 993645	NM_006461.4(SPAG5):c.3386T>A (p.Met1129Lys)	SPAG5 (M1129K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 993643	NM_006461.4(SPAG5):c.3354+1G>A	SPAG5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 779281	NM_006461.4(SPAG5):c.368G>A (p.Gly123Asp)	SPAG5 (G123D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 754242	NM_006461.4(SPAG5):c.2838G>A (p.Lys946=)	SPAG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign

ClinVar

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Links from Gene

Items: 92