ClinVar for Gene (Select 7294) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185100	NM_003328.3(TXK):c.905A>G (p.Asn302Ser)	TXK (N302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185099	NM_003328.3(TXK):c.670A>G (p.Ile224Val)	LOC126807050, TXK (I224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185098	NM_003328.3(TXK):c.442T>C (p.Tyr148His)	TXK (Y148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185096	NM_003328.3(TXK):c.1512T>G (p.His504Gln)	TXK (H504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185095	NM_003328.3(TXK):c.1435A>G (p.Ile479Val)	TXK (I479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185094	NM_003328.3(TXK):c.1414A>G (p.Asn472Asp)	TXK (N472D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185092	NM_003328.3(TXK):c.1361T>A (p.Val454Asp)	TXK (V454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185091	NM_003328.3(TXK):c.1264A>G (p.Ser422Gly)	TXK (S422G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185090	NM_003328.3(TXK):c.1195A>G (p.Ser399Gly)	TXK (S399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185089	NM_003328.3(TXK):c.1187G>A (p.Cys396Tyr)	TXK (C396Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2606389	NM_003328.3(TXK):c.1414A>C (p.Asn472His)	TXK (N472H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605628	NM_003328.3(TXK):c.1103T>A (p.Leu368Gln)	TXK (L368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597355	NM_003328.3(TXK):c.373C>T (p.Arg125Cys)	LOC126807051, TXK (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2569019	NM_003328.3(TXK):c.836G>A (p.Ser279Asn)	TXK (S279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491718	NM_003328.3(TXK):c.220C>T (p.Pro74Ser)	LOC126807051, TXK (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489073	NM_003328.3(TXK):c.1426G>A (p.Val476Met)	TXK (V476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412011	NM_003328.3(TXK):c.793G>A (p.Glu265Lys)	TXK (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383747	NM_003328.3(TXK):c.598A>G (p.Ile200Val)	LOC126807050, TXK (I200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376007	NM_003328.3(TXK):c.1061A>C (p.Tyr354Ser)	TXK (Y354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351767	NM_003328.3(TXK):c.562G>A (p.Val188Ile)	TXK (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335068	NM_003328.3(TXK):c.1552C>T (p.Arg518Trp)	TXK (R518W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302580	NM_003328.3(TXK):c.683T>A (p.Ile228Asn)	LOC126807050, TXK (I228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301912	NM_003328.3(TXK):c.1543G>A (p.Glu515Lys)	TXK (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301472	NM_003328.3(TXK):c.29A>G (p.Gln10Arg)	TXK (Q10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279112	NM_003328.3(TXK):c.639G>T (p.Trp213Cys)	LOC126807050, TXK (W213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278709	NM_003328.3(TXK):c.958A>C (p.Lys320Gln)	TXK (K320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274586	NM_003328.3(TXK):c.1555G>A (p.Ala519Thr)	TXK (A519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267621	NM_003328.3(TXK):c.367A>G (p.Arg123Gly)	LOC126807051, TXK (R123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264700	NM_003328.3(TXK):c.959A>G (p.Lys320Arg)	TXK (K320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243908	NM_003328.3(TXK):c.1180A>G (p.Arg394Gly)	TXK (R394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238178	NM_003328.3(TXK):c.877C>T (p.His293Tyr)	TXK (H293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220769	NM_003328.3(TXK):c.665A>G (p.Gln222Arg)	LOC126807050, TXK (Q222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213181	NM_003328.3(TXK):c.514G>T (p.Ala172Ser)	TXK (A172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	COX7B2, GABRA2 +11 more	Copy number gain	Autism	GLikely pathogenic
Select item 688887	GRCh37/hg19 4p12-11(chr4:47951905-48323818)x3	CNGA1, NIPAL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562910	GRCh37/hg19 4p12(chr4:47828849-48182073)x1	TEC, NIPAL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53