17116[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 305413	NM_053054.4(CATSPER1):c.*122AG[1]	CATSPER1	Microsatellite (3 prime UTR variant)	Male infertility	GUncertain significance
Select item 305414	NM_053054.4(CATSPER1):c.*96G>A	CATSPER1	Single nucleotide variant (3 prime UTR variant)	Spermatogenic failure 7	GUncertain significance
Select item 878837	NM_053054.4(CATSPER1):c.*63G>A	CATSPER1	Single nucleotide variant (3 prime UTR variant)	Spermatogenic failure 7	GUncertain significance
Select item 305415	NM_053054.4(CATSPER1):c.*23G>A	CATSPER1	Single nucleotide variant (3 prime UTR variant)	Spermatogenic failure 7	GUncertain significance
Select item 2641977	NM_053054.4(CATSPER1):c.2301G>A (p.Val767=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2254404	NM_053054.4(CATSPER1):c.2296A>G (p.Ile766Val)	CATSPER1 (I766V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137755	NM_053054.4(CATSPER1):c.2290G>A (p.Asp764Asn)	CATSPER1 (D764N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375195	NM_053054.4(CATSPER1):c.2284G>A (p.Val762Ile)	CATSPER1 (V762I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 878838	NM_053054.4(CATSPER1):c.2269C>T (p.Arg757Cys)	CATSPER1 (R757C)	Single nucleotide variant (missense variant)	Spermatogenic failure 7 +1 more	GUncertain significance
Select item 2410746	NM_053054.4(CATSPER1):c.2245G>A (p.Val749Met)	CATSPER1 (V749M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 878839	NM_053054.4(CATSPER1):c.2244C>T (p.Ser748=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7	GUncertain significance
Select item 878840	NM_053054.4(CATSPER1):c.2202-8A>C	CATSPER1	Single nucleotide variant (intron variant)	Spermatogenic failure 7	GUncertain significance
Select item 1242595	NM_053054.4(CATSPER1):c.2202-179A>T	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137754	NM_053054.4(CATSPER1):c.2183T>C (p.Phe728Ser)	CATSPER1 (F728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324400	NM_053054.4(CATSPER1):c.2183T>G (p.Phe728Cys)	CATSPER1 (F728C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137753	NM_053054.4(CATSPER1):c.2165G>A (p.Arg722Gln)	CATSPER1 (R722Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613520	NM_053054.4(CATSPER1):c.2146G>A (p.Glu716Lys)	CATSPER1 (E716K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305416	NM_053054.4(CATSPER1):c.2126-13T>C	CATSPER1	Single nucleotide variant (intron variant)	Spermatogenic failure 7	GUncertain significance
Select item 305417	NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7	GUncertain significance
Select item 305418	NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)	CATSPER1 (T703M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3137752	NM_053054.4(CATSPER1):c.2074C>T (p.Arg692Trp)	CATSPER1 (R692W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382170	NM_053054.4(CATSPER1):c.2071G>T (p.Ala691Ser)	CATSPER1 (A691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305419	NM_053054.4(CATSPER1):c.2070C>T (p.Ala690=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1239201	NM_053054.4(CATSPER1):c.2064+21G>A	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305420	NM_053054.4(CATSPER1):c.2064+6G>A	CATSPER1	Single nucleotide variant (intron variant)	Spermatogenic failure 7	GUncertain significance
Select item 1260596	NM_053054.4(CATSPER1):c.1992-58C>T	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2337576	NM_053054.4(CATSPER1):c.1988T>G (p.Leu663Arg)	CATSPER1 (L663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288549	NM_053054.4(CATSPER1):c.1987C>G (p.Leu663Val)	CATSPER1 (L663V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641978	NM_053054.4(CATSPER1):c.1965C>A (p.Ile655=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245901	NM_053054.4(CATSPER1):c.1963A>G (p.Ile655Val)	CATSPER1 (I655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305421	NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile)	CATSPER1 (V652I)	Single nucleotide variant (missense variant)	Spermatogenic failure 7 +1 more	GBenign
Select item 879419	NM_053054.4(CATSPER1):c.1950C>T (p.Ile650=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7 +1 more	GUncertain significance
Select item 305422	NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7	GUncertain significance
Select item 2277798	NM_053054.4(CATSPER1):c.1835G>A (p.Arg612His)	CATSPER1 (R612H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559942	NM_053054.4(CATSPER1):c.1817G>A (p.Arg606His)	CATSPER1 (R606H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 879420	NM_053054.4(CATSPER1):c.1805G>A (p.Arg602Gln)	CATSPER1 (R602Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 3137751	NM_053054.4(CATSPER1):c.1795G>A (p.Ala599Thr)	CATSPER1 (A599T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556586	NM_053054.4(CATSPER1):c.1780C>T (p.Leu594Phe)	CATSPER1 (L594F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305423	NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser)	CATSPER1 (I583S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3263525	NM_053054.4(CATSPER1):c.1742C>T (p.Pro581Leu)	CATSPER1 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458068	NM_053054.4(CATSPER1):c.1726C>G (p.Leu576Val)	CATSPER1 (L576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608768	NM_053054.4(CATSPER1):c.1721G>A (p.Gly574Glu)	CATSPER1 (G574E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053458	NM_053054.4(CATSPER1):c.1704C>T (p.Ser568=)	CATSPER1	Single nucleotide variant (synonymous variant)	CATSPER1-related disorder	GLikely benign
Select item 3137750	NM_053054.4(CATSPER1):c.1681C>T (p.Arg561Trp)	CATSPER1 (R561W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 879800	NM_053054.4(CATSPER1):c.1672C>T (p.Arg558Trp)	CATSPER1 (R558W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 768456	NM_053054.4(CATSPER1):c.1651C>T (p.Leu551=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3263527	NM_053054.4(CATSPER1):c.1571T>G (p.Leu524Arg)	CATSPER1 (L524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 879801	NM_053054.4(CATSPER1):c.1567G>A (p.Val523Met)	CATSPER1 (V523M)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 305424	NM_053054.4(CATSPER1):c.1544-6C>T	CATSPER1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3043593	NM_053054.4(CATSPER1):c.1544-7C>G	CATSPER1	Single nucleotide variant (intron variant)	CATSPER1-related disorder	GLikely benign
Select item 305425	NM_053054.4(CATSPER1):c.1544-10G>A	CATSPER1	Single nucleotide variant (intron variant)	Spermatogenic failure 7	GUncertain significance
Select item 305426	NM_053054.4(CATSPER1):c.1544-11C>T	CATSPER1	Single nucleotide variant (intron variant)	Spermatogenic failure 7	GUncertain significance
Select item 1222410	NM_053054.4(CATSPER1):c.1544-23G>C	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305427	NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7	GUncertain significance
Select item 305428	NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu)	CATSPER1 (S505L)	Single nucleotide variant (missense variant)	Spermatogenic failure 7 +1 more	GUncertain significance
Select item 2518132	NM_053054.4(CATSPER1):c.1505T>C (p.Leu502Pro)	CATSPER1 (L502P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373180	NM_053054.4(CATSPER1):c.1481A>G (p.Glu494Gly)	CATSPER1 (E494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305429	NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7 +1 more	GBenign/Likely benign
Select item 877855	NM_053054.4(CATSPER1):c.1457T>A (p.Ile486Lys)	CATSPER1 (I486K)	Single nucleotide variant (missense variant)	Spermatogenic failure 7 +1 more	GUncertain significance
Select item 2477668	NM_053054.4(CATSPER1):c.1450G>T (p.Asp484Tyr)	CATSPER1 (D484Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305430	NM_053054.4(CATSPER1):c.1445C>G (p.Ala482Gly)	CATSPER1 (A482G)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 305431	NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr)	CATSPER1 (A482T)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 2589382	NM_053054.4(CATSPER1):c.1412A>C (p.Glu471Ala)	CATSPER1 (E471A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305432	NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile)	CATSPER1 (V462I)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 2252400	NM_053054.4(CATSPER1):c.1349A>T (p.Glu450Val)	CATSPER1 (E450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137748	NM_053054.4(CATSPER1):c.1322G>C (p.Arg441Pro)	CATSPER1 (R441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789626	NM_053054.4(CATSPER1):c.1290C>T (p.Thr430=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 877856	NM_053054.4(CATSPER1):c.1270T>C (p.Trp424Arg)	CATSPER1 (W424R)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 2246045	NM_053054.4(CATSPER1):c.1237C>T (p.Arg413Cys)	CATSPER1 (R413C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305433	NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7 +1 more	GBenign
Select item 1279786	NM_053054.4(CATSPER1):c.1217-239C>T	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236152	NM_053054.4(CATSPER1):c.1217-278C>T	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258646	NM_053054.4(CATSPER1):c.1216+91C>T	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277747	NM_053054.4(CATSPER1):c.1216+69C>A	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305434	NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg)	CATSPER1 (G399R)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 2308951	NM_053054.4(CATSPER1):c.1184G>A (p.Gly395Asp)	CATSPER1 (G395D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493291	NM_053054.4(CATSPER1):c.1182G>C (p.Trp394Cys)	CATSPER1 (W394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604007	NM_053054.4(CATSPER1):c.1180T>A (p.Trp394Arg)	CATSPER1 (W394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534939	NM_053054.4(CATSPER1):c.1117C>T (p.Arg373Cys)	CATSPER1 (R373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137747	NM_053054.4(CATSPER1):c.1112G>A (p.Arg371His)	CATSPER1 (R371H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 878017	NM_053054.4(CATSPER1):c.1077G>A (p.Ser359=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7	GUncertain significance
Select item 2408463	NM_053054.4(CATSPER1):c.1070G>A (p.Arg357Gln)	CATSPER1 (R357Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 305435	NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp)	CATSPER1 (R357W)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 768457	NM_053054.4(CATSPER1):c.1057G>A (p.Val353Ile)	CATSPER1 (V353I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 305436	NM_053054.4(CATSPER1):c.1045T>G (p.Phe349Val)	CATSPER1 (F349V)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 2612850	NM_053054.4(CATSPER1):c.1031C>T (p.Ser344Phe)	CATSPER1 (S344F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335293	NM_053054.4(CATSPER1):c.1030T>G (p.Ser344Ala)	CATSPER1 (S344A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510874	NM_053054.4(CATSPER1):c.1009G>A (p.Asp337Asn)	CATSPER1 (D337N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326637	NM_053054.4(CATSPER1):c.1007A>C (p.His336Pro)	CATSPER1 (H336P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711064	NM_053054.4(CATSPER1):c.996G>C (p.Arg332=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7 +1 more	GConflicting classifications of pathogenicity
Select item 878018	NM_053054.4(CATSPER1):c.995G>A (p.Arg332Gln)	CATSPER1 (R332Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3263526	NM_053054.4(CATSPER1):c.989C>T (p.Thr330Ile)	CATSPER1 (T330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 305437	NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu)	CATSPER1 (Q324E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 4401	NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs)	CATSPER1 (D317fs)	Duplication (frameshift variant)	Spermatogenic failure 7	GPathogenic
Select item 305438	NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp)	CATSPER1 (G316D)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 879480	NM_053054.4(CATSPER1):c.945T>A (p.His315Gln)	CATSPER1 (H315Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
Select item 2407375	NM_053054.4(CATSPER1):c.932C>T (p.Ser311Phe)	CATSPER1 (S311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058789	NM_053054.4(CATSPER1):c.923C>T (p.Ala308Val)	CATSPER1 (A308V)	Single nucleotide variant (missense variant)	CATSPER1-related disorder	GLikely benign

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