BAK1[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2546889	NM_001188.4(BAK1):c.620G>C (p.Arg207Thr)	BAK1 (R207T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292741	NM_001188.4(BAK1):c.478G>A (p.Asp160Asn)	BAK1 (D160N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594155	NM_001188.4(BAK1):c.434A>G (p.His145Arg)	BAK1 (H145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264995	NM_001188.4(BAK1):c.403G>A (p.Gly135Ser)	BAK1 (G135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328328	NM_001188.4(BAK1):c.380G>C (p.Arg127Pro)	BAK1 (R127P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707918	NM_001188.4(BAK1):c.83C>T (p.Ala28Val)	BAK1 (A28V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 832257	NC_000006.12:g.(?_33391986)_(33672228_?)dup	KIFC1, BAK1 +5 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic