18810[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 152959	GRCh38/hg38 15q15.3(chr15:43559350-43659103)x3	CATSPER2, CKMT1B +4 more	Copy number gain	See cases	GBenign
Select item 148143	GRCh38/hg38 15q15.3(chr15:43559350-43656148)x3	CATSPER2, CKMT1B +4 more	Copy number gain	See cases	GBenign
Select item 562140	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 148737	GRCh38/hg38 15q15.3(chr15:43596729-43659103)x0	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GPathogenic
Select item 146604	GRCh38/hg38 15q15.3(chr15:43596729-43646649)x1	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GBenign
Select item 149446	GRCh38/hg38 15q15.3(chr15:43596754-43659119)x1	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GLikely benign
Select item 560061	Single allele	CATSPER2, LOC130056948 +2 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 157346	Single allele	CATSPER2, LOC130056948 +2 more	Deletion	Preeclampsia +1 more	Gnot provided
Select item 154714	GRCh38/hg38 15q15.3(chr15:43624774-43659103)x1	CATSPER2, LOC130056948 +1 more	Copy number loss	See cases	GBenign
Select item 148128	GRCh38/hg38 15q15.3(chr15:43624774-43659103)x3	CATSPER2, LOC130056948 +1 more	Copy number gain	See cases	GBenign
Select item 148113	GRCh38/hg38 15q15.3(chr15:43624774-43658522)x1	CATSPER2, LOC130056948 +1 more	Copy number loss	See cases	GBenign
Select item 154761	GRCh38/hg38 15q15.3(chr15:43624777-43659119)x3	CATSPER2, LOC130056948 +1 more	Copy number gain	See cases	GLikely benign
Select item 150745	GRCh38/hg38 15q15.3(chr15:43624777-43632088)x3	CATSPER2	Copy number gain	See cases	GLikely benign
Select item 150676	GRCh38/hg38 15q15.3(chr15:43624777-43643696)x3	CATSPER2, LOC130056948 +1 more	Copy number gain	See cases	GLikely benign
Select item 150007	GRCh38/hg38 15q15.3(chr15:43624777-43657366)x1	CATSPER2, LOC130056948 +1 more	Copy number loss	See cases	GLikely benign
Select item 150005	GRCh38/hg38 15q15.3(chr15:43624777-43657366)x3	CATSPER2, LOC130056948 +1 more	Copy number gain	See cases	GLikely benign
Select item 149380	GRCh38/hg38 15q15.3(chr15:43624777-43659119)x1	CATSPER2, LOC130056948 +1 more	Copy number loss	See cases	GBenign/Likely benign
Select item 1290268	NM_172095.4(CATSPER2):c.*313A>G	CATSPER2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287819	NM_172095.4(CATSPER2):c.1561+223G>C	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216831	NM_172095.4(CATSPER2):c.1561+48G>A	CATSPER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2529546	NM_172095.4(CATSPER2):c.1544A>T (p.Lys515Met)	CATSPER2 (K515M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137766	NM_172095.4(CATSPER2):c.1541A>T (p.Lys514Met)	CATSPER2 (K512M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 523804	NM_172095.4(CATSPER2):c.1492C>T (p.Arg498Ter)	CATSPER2 (R498* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2471340	NM_172095.4(CATSPER2):c.1438G>A (p.Gly480Arg)	CATSPER2 (G478R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2468636	NM_172095.4(CATSPER2):c.1436C>T (p.Pro479Leu)	CATSPER2 (P483L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3137764	NM_172095.4(CATSPER2):c.1399C>T (p.Arg467Cys)	CATSPER2 (R467C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1246622	NM_172095.4(CATSPER2):c.1397-29G>A	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257419	NM_172095.4(CATSPER2):c.1397-47A>G	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232282	NM_172095.4(CATSPER2):c.1397-121C>T	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3263536	NM_172095.4(CATSPER2):c.1369T>C (p.Ser457Pro)	CATSPER2 (S455P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2645275	NM_172095.4(CATSPER2):c.1341C>A (p.Ser447=)	CATSPER2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2261657	NM_172095.4(CATSPER2):c.1315G>A (p.Glu439Lys)	CATSPER2 (E439K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1277659	NM_172095.4(CATSPER2):c.1219T>A (p.Ser407Thr)	CATSPER2 (S405T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 402497	NM_172095.4(CATSPER2):c.1179-2A>T	CATSPER2	Single nucleotide variant (intron variant +1 more)	Rare genetic deafness +2 more	GBenign
Select item 517822	NM_172095.4(CATSPER2):c.1179-3A>C	CATSPER2	Single nucleotide variant (intron variant)	Rare genetic deafness +2 more	GBenign
Select item 517821	NM_172095.4(CATSPER2):c.1179-8T>C	CATSPER2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1247397	NM_172095.4(CATSPER2):c.1179-15A>C	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268473	NM_172095.4(CATSPER2):c.1178+188A>G	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2591318	NM_172095.4(CATSPER2):c.1175A>C (p.Asp392Ala)	CATSPER2 (D392A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591317	NM_172095.4(CATSPER2):c.1173G>T (p.Glu391Asp)	CATSPER2 (E397D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2645276	NM_172095.4(CATSPER2):c.1073G>A (p.Arg358Gln)	CATSPER2 (R358Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2206020	NM_172095.4(CATSPER2):c.1027A>G (p.Asn343Asp)	CATSPER2 (N349D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 422609	NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)	CATSPER2 (W307S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2645277	NM_172095.4(CATSPER2):c.915C>T (p.Asp305=)	CATSPER2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2608469	NM_172095.4(CATSPER2):c.904C>G (p.Leu302Val)	CATSPER2 (L302V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 162825	NM_172095.1(CATSPER2):c.(?_718-34)_(843-857_?)del	LOC130056948, CATSPER2 +1 more	Deletion	Rare genetic deafness	GPathogenic
Select item 978009	NM_172095.4(CATSPER2):c.842+1G>C	CATSPER2, LOC130056949	Single nucleotide variant (splice donor variant)	Male infertility	GUncertain significance
Select item 2568962	NM_172095.4(CATSPER2):c.824A>G (p.Glu275Gly)	CATSPER2, LOC130056949 (E281G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258900	NM_172095.4(CATSPER2):c.812G>T (p.Arg271Leu)	CATSPER2, LOC130056949 (R271L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206205	NM_172095.4(CATSPER2):c.791C>T (p.Ser264Leu)	CATSPER2, LOC130056949 (S264L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2508487	NM_172095.4(CATSPER2):c.761T>C (p.Ile254Thr)	CATSPER2, LOC130056949 (I254T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3263531	NM_172095.4(CATSPER2):c.751T>A (p.Phe251Ile)	CATSPER2, LOC130056949 (F251I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 667392	NC_000015.10:g.(?_43638998)_(43639062_?)del	CATSPER2, LOC130056949	Deletion	Rare genetic deafness +1 more	GPathogenic
Select item 3137772	NM_172095.4(CATSPER2):c.738G>A (p.Met246Ile)	CATSPER2, LOC130056949 (M252I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1227149	NM_172095.4(CATSPER2):c.718-180C>A	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271960	NM_172095.4(CATSPER2):c.717+109C>T	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2538872	NM_172095.4(CATSPER2):c.712C>T (p.Leu238Phe)	CATSPER2 (L238F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610336	NM_172095.4(CATSPER2):c.682C>A (p.Gln228Lys)	CATSPER2 (Q228K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3263530	NM_172095.4(CATSPER2):c.677A>C (p.Gln226Pro)	CATSPER2 (Q226P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137771	NM_172095.4(CATSPER2):c.674G>A (p.Arg225His)	CATSPER2 (R231H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2645278	NM_172095.4(CATSPER2):c.652C>G (p.Leu218Val)	CATSPER2 (L218V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3263532	NM_172095.4(CATSPER2):c.638G>A (p.Arg213Gln)	CATSPER2 (R219Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2411933	NM_172095.4(CATSPER2):c.605A>G (p.Gln202Arg)	CATSPER2 (Q202R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1261967	NM_172095.4(CATSPER2):c.562-107C>G	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229159	NM_172095.4(CATSPER2):c.562-175T>G	CATSPER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3263534	NM_172095.4(CATSPER2):c.527C>T (p.Ala176Val)	CATSPER2 (A182V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226879	NM_172095.4(CATSPER2):c.442G>T (p.Val148Leu)	CATSPER2 (V148L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2582931	NM_172095.4(CATSPER2):c.389-7T>C	CATSPER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3137770	NM_172095.4(CATSPER2):c.371T>C (p.Ile124Thr)	CATSPER2 (I124T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2569869	NM_172095.4(CATSPER2):c.352G>A (p.Val118Ile)	CATSPER2 (V118I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2285378	NM_172095.4(CATSPER2):c.293C>T (p.Ser98Phe)	CATSPER2 (S104F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3263529	NM_172095.4(CATSPER2):c.289C>T (p.Leu97Phe)	CATSPER2 (L103F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137768	NM_172095.4(CATSPER2):c.220A>G (p.Ile74Val)	CATSPER2 (I74V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3137767	NM_172095.4(CATSPER2):c.217C>T (p.Arg73Cys)	CATSPER2 (R73C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 508570	NM_172095.4(CATSPER2):c.169G>A (p.Val57Ile)	CATSPER2 (V57I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3137765	NM_172095.4(CATSPER2):c.152C>T (p.Ser51Phe)	CATSPER2 (S57F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616591	NM_172095.4(CATSPER2):c.146A>C (p.Asp49Ala)	CATSPER2 (D49A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3263533	NM_172095.4(CATSPER2):c.138G>C (p.Glu46Asp)	CATSPER2 (E52D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2232048	NM_172095.4(CATSPER2):c.121C>T (p.Arg41Trp)	CATSPER2 (R47W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2541614	NM_172095.4(CATSPER2):c.107G>A (p.Ser36Asn)	CATSPER2 (S42N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2256947	NM_172095.4(CATSPER2):c.69C>G (p.Ile23Met)	CATSPER2 (I23M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2273125	NM_172095.4(CATSPER2):c.56G>A (p.Arg19His)	CATSPER2 (R19H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2618238	NM_172095.4(CATSPER2):c.37C>T (p.Pro13Ser)	CATSPER2 (P19S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137769	NM_172095.4(CATSPER2):c.32A>G (p.Gln11Arg)	CATSPER2 (Q17R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1179287	NC_000015.10:g.43648927G>C	CATSPER2	Single nucleotide variant	not provided	GBenign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024592	GRCh37/hg19 15q15.3(chr15:43888054-43941032)x0	CATSPER2, CKMT1B +1 more	Copy number loss	not provided	GPathogenic
Select item 3024591	GRCh37/hg19 15q15.3(chr15:43873425-43941042)x1	CATSPER2, CKMT1B +2 more	Copy number loss	not provided	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1879316	GRCh37/hg19 15q15.3(chr15:43888606-43941032)x0	CATSPER2, CKMT1B +1 more	Copy number loss	not provided	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1175707	NC_000015.9:g.(43851199_43890391)_(?_44038820)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1175705	NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del	CATSPER2, CKMT1B +2 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1174526	NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	CKMT1A, CKMT1B +4 more	Deletion	Deafness-infertility syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 996368	Single allele	CATSPER2, CKMT1A +2 more	Deletion	Hearing impairment	GBenign
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 689340	GRCh37/hg19 15q15.3(chr15:43868570-43968136)x1	CATSPER2, CKMT1B +2 more	Copy number loss	not provided	GUncertain significance

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