ClinVar for Gene (Select 117144) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263528	NM_053054.4(CATSPER1):c.562A>G (p.Ser188Gly)	CATSPER1 (S188G)	Single nucleotide variant (missense variant)	not specified	GLikely 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 3263526	NM_053054.4(CATSPER1):c.989C>T (p.Thr330Ile)	CATSPER1 (T330I)	Single nucleotide variant (missense variant)	not specified	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 3137763	NM_053054.4(CATSPER1):c.613G>A (p.Asp205Asn)	CATSPER1 (D205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137762	NM_053054.4(CATSPER1):c.596T>C (p.Leu199Pro)	CATSPER1 (L199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137761	NM_053054.4(CATSPER1):c.595C>T (p.Leu199Phe)	CATSPER1 (L199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137759	NM_053054.4(CATSPER1):c.502C>T (p.His168Tyr)	CATSPER1 (H168Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137758	NM_053054.4(CATSPER1):c.412C>G (p.Gln138Glu)	CATSPER1 (Q138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137757	NM_053054.4(CATSPER1):c.254G>A (p.Arg85Gln)	CATSPER1 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137756	NM_053054.4(CATSPER1):c.253C>T (p.Arg85Trp)	CATSPER1 (R85W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3137754	NM_053054.4(CATSPER1):c.2183T>C (p.Phe728Ser)	CATSPER1 (F728S)	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 3137752	NM_053054.4(CATSPER1):c.2074C>T (p.Arg692Trp)	CATSPER1 (R692W)	Single nucleotide variant (missense variant)	not specified	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 3137750	NM_053054.4(CATSPER1):c.1681C>T (p.Arg561Trp)	CATSPER1 (R561W)	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 3137747	NM_053054.4(CATSPER1):c.1112G>A (p.Arg371His)	CATSPER1 (R371H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3058789	NM_053054.4(CATSPER1):c.923C>T (p.Ala308Val)	CATSPER1 (A308V)	Single nucleotide variant (missense variant)	CATSPER1-related disorder	GLikely benign
Select item 3058785	NM_053054.4(CATSPER1):c.600C>T (p.Ser200=)	CATSPER1	Single nucleotide variant (synonymous variant)	CATSPER1-related disorder	GLikely benign
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 3043593	NM_053054.4(CATSPER1):c.1544-7C>G	CATSPER1	Single nucleotide variant (intron variant)	CATSPER1-related disorder	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641979	NM_053054.4(CATSPER1):c.396C>T (p.Tyr132=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641978	NM_053054.4(CATSPER1):c.1965C>A (p.Ile655=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641977	NM_053054.4(CATSPER1):c.2301G>A (p.Val767=)	CATSPER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627058	NM_053054.4(CATSPER1):c.889C>T (p.Arg297Ter)	CATSPER1 (R297*)	Single nucleotide variant (nonsense)	Spermatogenic failure 7	GLikely pathogenic
Select item 2618950	NM_053054.4(CATSPER1):c.278C>T (p.Pro93Leu)	CATSPER1 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618949	NM_053054.4(CATSPER1):c.271C>G (p.His91Asp)	CATSPER1 (H91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616768	NM_053054.4(CATSPER1):c.657C>A (p.His219Gln)	CATSPER1 (H219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2612850	NM_053054.4(CATSPER1):c.1031C>T (p.Ser344Phe)	CATSPER1 (S344F)	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 2604007	NM_053054.4(CATSPER1):c.1180T>A (p.Trp394Arg)	CATSPER1 (W394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595919	NM_053054.4(CATSPER1):c.514G>C (p.Ala172Pro)	CATSPER1 (A172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593186	NM_053054.4(CATSPER1):c.884G>A (p.Arg295Gln)	CATSPER1 (R295Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2559942	NM_053054.4(CATSPER1):c.1817G>A (p.Arg606His)	CATSPER1 (R606H)	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 2551679	NM_053054.4(CATSPER1):c.835C>G (p.His279Asp)	CATSPER1 (H279D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546404	NM_053054.4(CATSPER1):c.313G>A (p.Val105Ile)	CATSPER1 (V105I)	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 2526821	NM_053054.4(CATSPER1):c.796G>A (p.Glu266Lys)	CATSPER1 (E266K)	Single nucleotide variant (missense variant)	not specified	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 2510874	NM_053054.4(CATSPER1):c.1009G>A (p.Asp337Asn)	CATSPER1 (D337N)	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 2477668	NM_053054.4(CATSPER1):c.1450G>T (p.Asp484Tyr)	CATSPER1 (D484Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458069	NM_053054.4(CATSPER1):c.724C>A (p.His242Asn)	CATSPER1 (H242N)	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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +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 2408463	NM_053054.4(CATSPER1):c.1070G>A (p.Arg357Gln)	CATSPER1 (R357Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2382170	NM_053054.4(CATSPER1):c.2071G>T (p.Ala691Ser)	CATSPER1 (A691S)	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 2373301	NM_053054.4(CATSPER1):c.382G>C (p.Asp128His)	CATSPER1 (D128H)	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 2371263	NM_053054.4(CATSPER1):c.466G>A (p.Gly156Ser)	CATSPER1 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365739	NM_053054.4(CATSPER1):c.326G>A (p.Arg109His)	CATSPER1 (R109H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359410	NM_053054.4(CATSPER1):c.460T>C (p.Tyr154His)	CATSPER1 (Y154H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2335293	NM_053054.4(CATSPER1):c.1030T>G (p.Ser344Ala)	CATSPER1 (S344A)	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 2324400	NM_053054.4(CATSPER1):c.2183T>G (p.Phe728Cys)	CATSPER1 (F728C)	Single nucleotide variant (missense variant)	not specified	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 2304322	NM_053054.4(CATSPER1):c.743C>T (p.Ser248Phe)	CATSPER1 (S248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304189	NM_053054.4(CATSPER1):c.865C>G (p.His289Asp)	CATSPER1 (H289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296402	NM_053054.4(CATSPER1):c.718T>C (p.Ser240Pro)	CATSPER1 (S240P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2277798	NM_053054.4(CATSPER1):c.1835G>A (p.Arg612His)	CATSPER1 (R612H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2252400	NM_053054.4(CATSPER1):c.1349A>T (p.Glu450Val)	CATSPER1 (E450V)	Single nucleotide variant (missense variant)	not specified	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 2245901	NM_053054.4(CATSPER1):c.1963A>G (p.Ile655Val)	CATSPER1 (I655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236698	NM_053054.4(CATSPER1):c.554A>G (p.Asn185Ser)	CATSPER1 (N185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204543	NM_053054.4(CATSPER1):c.71G>A (p.Arg24His)	CATSPER1 (R24H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1279786	NM_053054.4(CATSPER1):c.1217-239C>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 1260596	NM_053054.4(CATSPER1):c.1992-58C>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 1242595	NM_053054.4(CATSPER1):c.2202-179A>T	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239201	NM_053054.4(CATSPER1):c.2064+21G>A	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 1222410	NM_053054.4(CATSPER1):c.1544-23G>C	CATSPER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 879842	NM_053054.4(CATSPER1):c.543C>T (p.Pro181=)	CATSPER1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 7	GUncertain significance
Select item 879841	NM_053054.4(CATSPER1):c.689G>A (p.Arg230His)	CATSPER1 (R230H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 879482	NM_053054.4(CATSPER1):c.773G>A (p.Arg258His)	CATSPER1 (R258H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 879481	NM_053054.4(CATSPER1):c.890G>A (p.Arg297Gln)	CATSPER1 (R297Q)	Single nucleotide variant (missense variant)	not specified +1 more	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 879420	NM_053054.4(CATSPER1):c.1805G>A (p.Arg602Gln)	CATSPER1 (R602Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 7	GUncertain significance
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 878840	NM_053054.4(CATSPER1):c.2202-8A>C	CATSPER1	Single nucleotide variant (intron variant)	Spermatogenic failure 7	GUncertain significance

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