KATNBL1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	SNORD115-20, SNORD115-21 +314 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2595641	NM_024713.3(KATNBL1):c.785A>G (p.Asp262Gly)	KATNBL1 (D262G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326171	NM_024713.3(KATNBL1):c.736A>G (p.Ile246Val)	KATNBL1 (I246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333958	NM_024713.3(KATNBL1):c.725T>C (p.Leu242Pro)	KATNBL1 (L242P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229145	NM_024713.3(KATNBL1):c.701A>G (p.Tyr234Cys)	KATNBL1 (Y234C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290029	NM_024713.3(KATNBL1):c.561A>G (p.Ile187Met)	KATNBL1 (I187M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616452	NM_024713.3(KATNBL1):c.458C>G (p.Thr153Arg)	KATNBL1 (T153R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609636	NM_024713.3(KATNBL1):c.253A>G (p.Arg85Gly)	KATNBL1 (R85G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239174	NM_024713.3(KATNBL1):c.242A>G (p.Asn81Ser)	KATNBL1 (N81S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525366	NM_024713.3(KATNBL1):c.71T>G (p.Leu24Arg)	KATNBL1 (L24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345210	NM_024713.3(KATNBL1):c.18C>A (p.His6Gln)	KATNBL1 (H6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
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 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1808017	GRCh37/hg19 15q14(chr15:33785125-34488132)x3	AVEN, CHRM5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980030	GRCh37/hg19 15q14(chr15:33780535-34469123)x3	RYR3, AVEN +4 more	Copy number gain	not provided	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443007	GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3	APBA2, ARHGAP11A +25 more	Copy number gain	See cases	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance
Select item 394384	GRCh37/hg19 15q14(chr15:33809650-34455671)x3	AVEN, CHRM5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 394221	GRCh37/hg19 15q14(chr15:34433403-34619178)x3	EMC4, KATNBL1 +1 more	Copy number gain	See cases	GLikely benign

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Items: 43