ClinVar for Gene (Select 83893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321854	NM_031955.6(SPATA16):c.482T>C (p.Leu161Ser)	SPATA16 (L161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321853	NM_031955.6(SPATA16):c.1610T>C (p.Leu537Pro)	SPATA16 (L537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321852	NM_031955.6(SPATA16):c.253A>C (p.Lys85Gln)	SPATA16 (K85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168212	NM_031955.6(SPATA16):c.980T>G (p.Met327Arg)	SPATA16 (M327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168211	NM_031955.6(SPATA16):c.1691A>G (p.Gln564Arg)	SPATA16 (Q564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168210	NM_031955.6(SPATA16):c.1491G>C (p.Gln497His)	SPATA16 (Q497H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168209	NM_031955.6(SPATA16):c.1307T>C (p.Ile436Thr)	SPATA16 (I436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168208	NM_031955.6(SPATA16):c.129G>A (p.Met43Ile)	SPATA16 (M43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168207	NM_031955.6(SPATA16):c.1268T>C (p.Val423Ala)	SPATA16 (V423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062706	GRCh37/hg19 3q26.31(chr3:172382427-173592368)x3	ECT2, NCEH1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685937	GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2558706	NM_031955.6(SPATA16):c.400G>A (p.Gly134Ser)	SPATA16 (G134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554555	NM_031955.6(SPATA16):c.1246G>T (p.Gly416Cys)	SPATA16 (G416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520446	NM_031955.6(SPATA16):c.1320T>G (p.Ile440Met)	SPATA16 (I440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515723	NM_031955.6(SPATA16):c.1613A>G (p.Tyr538Cys)	SPATA16 (Y538C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488164	NM_031955.6(SPATA16):c.1319T>C (p.Ile440Thr)	SPATA16 (I440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466994	NM_031955.6(SPATA16):c.1012G>C (p.Asp338His)	SPATA16 (D338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2412064	NM_031955.6(SPATA16):c.1600G>A (p.Glu534Lys)	SPATA16 (E534K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393066	NM_031955.6(SPATA16):c.1076A>G (p.Tyr359Cys)	SPATA16 (Y359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357386	NM_031955.6(SPATA16):c.280A>G (p.Arg94Gly)	SPATA16 (R94G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300720	NM_031955.6(SPATA16):c.227A>T (p.Asp76Val)	SPATA16 (D76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290531	NM_031955.6(SPATA16):c.1687C>A (p.Leu563Ile)	SPATA16 (L563I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286309	NM_031955.6(SPATA16):c.1451A>C (p.Glu484Ala)	SPATA16 (E484A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259395	NM_031955.6(SPATA16):c.454T>G (p.Cys152Gly)	SPATA16 (C152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246659	NM_031955.6(SPATA16):c.1010C>T (p.Ala337Val)	SPATA16 (A337V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215939	NM_031955.6(SPATA16):c.80C>G (p.Thr27Arg)	SPATA16 (T27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214102	NM_031955.6(SPATA16):c.1457C>T (p.Ala486Val)	SPATA16 (A486V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213470	NM_031955.6(SPATA16):c.1295G>A (p.Arg432Gln)	SPATA16 (R432Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340610	GRCh37/hg19 3q26.31(chr3:172248537-172772035)x3	ECT2, NCEH1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1235819	NM_031955.6(SPATA16):c.1228+275T>C	SPATA16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 980549	GRCh37/hg19 3q26.31(chr3:172521399-172794826)x3	SPATA16, ECT2	Copy number gain	not provided	GUncertain significance
Select item 902898	NM_031955.6(SPATA16):c.-2C>T	SPATA16	Single nucleotide variant (5 prime UTR variant)	Globozoospermia	GUncertain significance
Select item 902897	NM_031955.6(SPATA16):c.117C>T (p.Asn39=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 902837	NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp)	SPATA16 (G454D)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 902836	NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg)	SPATA16 (S463R)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 902835	NM_031955.6(SPATA16):c.1503+15T>C	SPATA16	Single nucleotide variant (intron variant)	Globozoospermia	GUncertain significance
Select item 902004	NM_031955.6(SPATA16):c.205A>G (p.Ile69Val)	SPATA16 (I69V)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GUncertain significance
Select item 902003	NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln)	SPATA16 (R84Q)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GUncertain significance
Select item 902002	NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys)	SPATA16 (R136C)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 901937	NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr)	SPATA16 (M526T)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GLikely benign
Select item 901936	NM_031955.6(SPATA16):c.*92A>G	SPATA16	Single nucleotide variant (3 prime UTR variant)	Globozoospermia	GUncertain significance
Select item 901935	NM_031955.6(SPATA16):c.*138C>A	SPATA16	Single nucleotide variant (3 prime UTR variant)	Globozoospermia	GUncertain significance
Select item 901934	NM_031955.6(SPATA16):c.*157C>T	SPATA16	Single nucleotide variant (3 prime UTR variant)	Globozoospermia	GUncertain significance
Select item 901440	NM_031955.6(SPATA16):c.430A>G (p.Met144Val)	SPATA16 (M144V)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 901439	NM_031955.6(SPATA16):c.490C>T (p.His164Tyr)	SPATA16 (H164Y)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 901438	NM_031955.6(SPATA16):c.613-13A>G	SPATA16	Single nucleotide variant (intron variant)	Globozoospermia	GUncertain significance
Select item 900278	NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln)	SPATA16 (R240Q)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 900277	NM_031955.6(SPATA16):c.750T>C (p.His250=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 900276	NM_031955.6(SPATA16):c.996G>A (p.Ala332=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 790548	NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe)	SPATA16 (L246F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 774303	NM_031955.6(SPATA16):c.53A>G (p.His18Arg)	SPATA16 (H18R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710246	NM_031955.6(SPATA16):c.1707G>C (p.Arg569Ser)	SPATA16 (R569S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710245	NM_031955.6(SPATA16):c.1708T>C (p.Ter570Gln)	SPATA16	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 687021	GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3	ECT2, FNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 631916	NM_031955.6(SPATA16):c.1588-2A>G	SPATA16	Single nucleotide variant (splice acceptor variant)	Globozoospermia	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 344233	NM_031955.5(SPATA16):c.-159C>A	SPATA16	Single nucleotide variant	Spermatogenic Failure	GUncertain significance
Select item 344232	NM_031955.6(SPATA16):c.-142G>A	SPATA16	Single nucleotide variant (5 prime UTR variant)	Globozoospermia	GUncertain significance
Select item 344231	NM_031955.6(SPATA16):c.-141C>T	SPATA16	Single nucleotide variant (5 prime UTR variant)	Spermatogenic Failure	GUncertain significance
Select item 344230	NM_031955.6(SPATA16):c.-121G>A	SPATA16	Single nucleotide variant (5 prime UTR variant)	Globozoospermia	GLikely benign
Select item 344229	NM_031955.6(SPATA16):c.25T>C (p.Leu9=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 344228	NM_031955.6(SPATA16):c.91A>T (p.Met31Leu)	SPATA16 (M31L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 344227	NM_031955.6(SPATA16):c.104C>T (p.Ala35Val)	SPATA16 (A35V)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GUncertain significance
Select item 344226	NM_031955.6(SPATA16):c.105G>A (p.Ala35=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 344225	NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr)	SPATA16 (S44T)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 344224	NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser)	SPATA16 (N50S)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign/Likely benign
Select item 344223	NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys)	SPATA16 (E78K)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 344222	NM_031955.6(SPATA16):c.328A>C (p.Met110Leu)	SPATA16 (M110L)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344221	NM_031955.6(SPATA16):c.397A>G (p.Met133Val)	SPATA16 (M133V)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 344220	NM_031955.6(SPATA16):c.430A>C (p.Met144Leu)	SPATA16 (M144L)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344219	NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu)	SPATA16 (G147E)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GBenign
Select item 344218	NM_031955.6(SPATA16):c.546T>C (p.Asp182=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 344217	NM_031955.6(SPATA16):c.576C>T (p.Tyr192=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 344216	NM_031955.6(SPATA16):c.675C>T (p.Ser225=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia +1 more	GBenign
Select item 344215	NM_031955.6(SPATA16):c.720G>A (p.Arg240=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia +1 more	GBenign
Select item 344214	NM_031955.6(SPATA16):c.828G>A (p.Glu276=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 344213	NM_031955.6(SPATA16):c.848+15del	SPATA16	Deletion (intron variant)	Spermatogenic Failure	GUncertain significance
Select item 344212	NM_031955.6(SPATA16):c.873G>A (p.Met291Ile)	SPATA16 (M291I)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344211	NM_031955.6(SPATA16):c.995C>T (p.Ala332Val)	SPATA16 (A332V)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344210	NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn)	SPATA16 (D373N)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344209	NM_031955.6(SPATA16):c.1143A>G (p.Gln381=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia +1 more	GLikely benign
Select item 344208	NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly)	SPATA16 (S442G)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344207	NM_031955.6(SPATA16):c.1365G>T (p.Val455=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GLikely benign
Select item 344206	NM_031955.6(SPATA16):c.1401G>T (p.Gln467His)	SPATA16 (Q467H)	Single nucleotide variant (missense variant)	Globozoospermia	GUncertain significance
Select item 344205	NM_031955.6(SPATA16):c.1513C>T (p.Leu505=)	SPATA16	Single nucleotide variant (synonymous variant)	Globozoospermia	GUncertain significance
Select item 344204	NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val)	SPATA16 (A509V)	Single nucleotide variant (missense variant)	Globozoospermia +1 more	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154453	GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1	LOC112935909, LOC112935910 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic

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