1995[HGNC] - ClinVar

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Items: 53

	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 2263893	NM_001375484.1(CKMT1B):c.721G>T (p.Ala241Ser)	CKMT1B (A241S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289474	NM_001375484.1(CKMT1B):c.742C>T (p.Arg248Cys)	CKMT1B (R248C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145262	NM_001375484.1(CKMT1B):c.805C>T (p.Arg269Trp)	CKMT1B (R269W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221965	NM_001375484.1(CKMT1B):c.824A>G (p.Lys275Arg)	CKMT1B (K275R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604172	NM_001375484.1(CKMT1B):c.830G>A (p.Gly277Asp)	CKMT1B (G277D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3267493	NM_001375484.1(CKMT1B):c.877G>A (p.Val293Met)	CKMT1B (V293M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267491	NM_001375484.1(CKMT1B):c.1015A>G (p.Ser339Gly)	CKMT1B (S339G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267490	NM_001375484.1(CKMT1B):c.1055A>C (p.Lys352Thr)	CKMT1B (K352T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408870	NM_001375484.1(CKMT1B):c.1093G>A (p.Gly365Ser)	CKMT1B (G365S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267494	NM_001375484.1(CKMT1B):c.1097T>C (p.Val366Ala)	CKMT1B (V366A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243008	NM_001375484.1(CKMT1B):c.1106T>G (p.Ile369Ser)	CKMT1B (I369S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145260	NM_001375484.1(CKMT1B):c.1121G>A (p.Arg374Gln)	CKMT1B (R374Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351987	NM_001375484.1(CKMT1B):c.1162G>A (p.Asp388Asn)	CKMT1B (D388N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778548	NM_001375484.1(CKMT1B):c.1196G>A (p.Arg399His)	CKMT1B (R399H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3145261	NM_001375484.1(CKMT1B):c.1220G>A (p.Arg407His)	CKMT1B (R407H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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
Select item 688049	GRCh37/hg19 15q15.3(chr15:43888004-43934240)x1	CATSPER2, CKMT1B +1 more	Copy number loss	not provided	GUncertain significance
Select item 687901	GRCh37/hg19 15q15.3(chr15:43868570-43968476)x1	CATSPER2, CKMT1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 685914	GRCh37/hg19 15q15.3(chr15:43851398-43968136)x1	CATSPER2, CKMT1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 685309	GRCh37/hg19 15q15.3(chr15:43889912-43934240)x1	CATSPER2, CKMT1B +1 more	Copy number loss	not provided	GUncertain significance
Select item 685283	GRCh37/hg19 15q15.3(chr15:43868570-43968203)x1	CATSPER2, CKMT1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 625830	GRCh37/hg19 15q15.3(chr15:43890409-43939642)	STRC, CATSPER2 +1 more	Copy number loss	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 625827	GRCh37/hg19 15q15.3(chr15:43891364-43939659)	STRC, CKMT1B +1 more	Copy number loss	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 617597	GRCh37/hg19 15q15.3(chr15:43888927-43933733)x1	CATSPER2, CKMT1A +3 more	Copy number loss	Global developmental delay	GUncertain significance
Select item 598749	Single allele	CKMT1B, STRC +1 more	Deletion	Deafness-infertility syndrome	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443647	GRCh37/hg19 15q15.3(chr15:43868571-44014518)x0	CATSPER2, CKMT1A +3 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 53