ClinVar for Gene (Select 1159) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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	STRC, CATSPER2 +2 more	Copy number loss	not provided	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 778548	NM_001375484.1(CKMT1B):c.1196G>A (p.Arg399His)	CKMT1B (R399H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 562140	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	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
Select item 152959	GRCh38/hg38 15q15.3(chr15:43559350-43659103)x3	CATSPER2, CKMT1B +4 more	Copy number gain	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 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 148737	GRCh38/hg38 15q15.3(chr15:43596729-43659103)x0	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GPathogenic
Select item 148143	GRCh38/hg38 15q15.3(chr15:43559350-43656148)x3	CATSPER2, CKMT1B +4 more	Copy number gain	See cases	GBenign
Select item 146604	GRCh38/hg38 15q15.3(chr15:43596729-43646649)x1	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 53