"Ambry Genetics"[submitter] AND "TBCK"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1470654	NM_001163435.3(TBCK):c.2588T>C (p.Val863Ala)	TBCK (V863A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1508750	NM_001163435.3(TBCK):c.2542G>A (p.Val848Met)	TBCK (V785M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1599389	NM_001163435.3(TBCK):c.2446A>C (p.Ile816Leu)	TBCK (I644L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1029174	NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro)	TBCK (R744P +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GUncertain significance
Select item 1543643	NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)	TBCK (S618G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2287211	NM_001163435.3(TBCK):c.2308G>A (p.Asp770Asn)	TBCK (D598N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372218	NM_001163435.3(TBCK):c.2301C>A (p.Asp767Glu)	TBCK (D704E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3324778	NM_001163435.3(TBCK):c.2285G>A (p.Arg762Gln)	TBCK (R699Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230779	NM_001163435.3(TBCK):c.2269T>G (p.Ser757Ala)	TBCK (S585A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500609	NM_001163435.3(TBCK):c.2206G>C (p.Glu736Gln)	TBCK (E736Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3324779	NM_001163435.3(TBCK):c.2191C>T (p.Pro731Ser)	TBCK (P668S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174791	NM_001163435.3(TBCK):c.2188G>A (p.Ala730Thr)	TBCK (A691T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339343	NM_001163435.3(TBCK):c.2164G>A (p.Asp722Asn)	TBCK (D659N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594992	NM_001163435.3(TBCK):c.2146C>T (p.Pro716Ser)	TBCK (P716S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2179266	NM_001163435.3(TBCK):c.2104T>C (p.Cys702Arg)	TBCK (C530R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 986131	NM_001163435.3(TBCK):c.2091dup (p.Ile698fs)	TBCK (I526fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 985889	NM_001163435.3(TBCK):c.1999C>T (p.Arg667Trp)	TBCK (R495W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3324775	NM_001163435.3(TBCK):c.1865A>G (p.Tyr622Cys)	TBCK (Y622C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423274	NM_001163435.3(TBCK):c.1855C>G (p.Pro619Ala)	TBCK (P447A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2116548	NM_001163435.3(TBCK):c.1844T>C (p.Ile615Thr)	TBCK (I576T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 638385	NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr)	TBCK (A602T +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GUncertain significance
Select item 2264120	NM_001163435.3(TBCK):c.1800G>C (p.Met600Ile)	TBCK (M428I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174789	NM_001163435.3(TBCK):c.1764T>G (p.His588Gln)	TBCK (H588Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184433	NM_001163435.3(TBCK):c.1731C>G (p.Tyr577Ter)	TBCK (Y538* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2398397	NM_001163435.3(TBCK):c.1729T>A (p.Tyr577Asn)	TBCK (Y577N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1493934	NM_001163435.3(TBCK):c.1666C>G (p.Leu556Val)	TBCK (L517V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2305422	NM_001163435.3(TBCK):c.1641_1648delinsGG (p.Leu548_Ser550delinsAla)	TBCK	Indel (inframe_indel)	Inborn genetic diseases	GUncertain significance
Select item 3324773	NM_001163435.3(TBCK):c.1613C>A (p.Ser538Tyr)	TBCK (S366Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1397508	NM_001163435.3(TBCK):c.1471G>A (p.Asp491Asn)	TBCK (D319N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1435974	NM_001163435.3(TBCK):c.1371C>A (p.Asn457Lys)	TBCK (N457K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2293011	NM_001163435.3(TBCK):c.1349A>T (p.Lys450Met)	TBCK (K411M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406823	NM_001163435.3(TBCK):c.1260G>T (p.Leu420Phe)	TBCK (L248F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1442463	NM_001163435.3(TBCK):c.1250A>G (p.Asn417Ser)	TBCK (N245S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 392187	NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val)	TBCK (D377V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3324774	NM_001163435.3(TBCK):c.1025A>G (p.Asn342Ser)	TBCK (N342S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1461959	NM_001163435.3(TBCK):c.980A>G (p.Tyr327Cys)	TBCK (Y327C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732178	NM_001163435.3(TBCK):c.974T>C (p.Val325Ala)	TBCK (V153A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2179286	NM_001163435.3(TBCK):c.934A>G (p.Ile312Val)	TBCK (I273V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1430462	NM_001163435.3(TBCK):c.911A>G (p.Asp304Gly)	TBCK (D265G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3174799	NM_001163435.3(TBCK):c.910G>A (p.Asp304Asn)	TBCK (D132N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337913	NM_001163435.3(TBCK):c.871T>A (p.Ser291Thr)	TBCK (S228T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1502744	NM_001163435.3(TBCK):c.845C>G (p.Pro282Arg)	TBCK (P219R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1501788	NM_001163435.3(TBCK):c.844C>T (p.Pro282Ser)	TBCK (P243S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1463210	NM_001163435.3(TBCK):c.812A>G (p.Lys271Arg)	TBCK (K208R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 986132	NM_001163435.3(TBCK):c.791C>G (p.Pro264Arg)	TBCK (P201R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324776	NM_001163435.3(TBCK):c.784C>A (p.Pro262Thr)	TBCK (P223T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985890	NM_001163435.3(TBCK):c.720+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 3174796	NM_001163435.3(TBCK):c.717A>G (p.Ile239Met)	TBCK (I239M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285675	NM_001163435.3(TBCK):c.712A>G (p.Ile238Val)	TBCK (I238V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615655	NM_001163435.3(TBCK):c.696G>T (p.Glu232Asp)	TBCK (E232D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284675	NM_001163435.3(TBCK):c.502A>G (p.Lys168Glu)	TBCK (K105E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1934103	NM_001163435.3(TBCK):c.487G>C (p.Ala163Pro)	TBCK (A100P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2303958	NM_001163435.3(TBCK):c.448C>T (p.Pro150Ser)	TBCK (P150S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1511263	NM_001163435.3(TBCK):c.428A>G (p.His143Arg)	TBCK (H143R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2603828	NM_001163435.3(TBCK):c.418A>G (p.Met140Val)	TBCK (M140V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3174795	NM_001163435.3(TBCK):c.386A>G (p.His129Arg)	TBCK (H129R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 225235	NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)	TBCK (R126*)	Single nucleotide variant (nonsense +2 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GPathogenic
Select item 1488156	NM_001163435.3(TBCK):c.290C>T (p.Ala97Val)	TBCK (A97V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1501764	NM_001163435.3(TBCK):c.274A>G (p.Thr92Ala)	TBCK (T92A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3174794	NM_001163435.3(TBCK):c.262G>A (p.Val88Met)	TBCK (V88M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275686	NM_001163435.3(TBCK):c.239A>T (p.Asp80Val)	TBCK (D80V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3174792	NM_001163435.3(TBCK):c.229A>C (p.Ser77Arg)	TBCK (S77R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1445478	NM_001163435.3(TBCK):c.227G>A (p.Arg76His)	TBCK (R76H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446215	NM_001163435.3(TBCK):c.208G>A (p.Val70Met)	TBCK (V70M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3324777	NM_001163435.3(TBCK):c.173A>C (p.Asp58Ala)	TBCK (D58A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249726	NM_001163435.3(TBCK):c.107T>C (p.Ile36Thr)	TBCK (I36T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1400470	NM_001163435.3(TBCK):c.7C>A (p.Pro3Thr)	TBCK (P3T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 67