"GeneDx"[submitter] AND "TBCK"[gene] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 1251435	NM_001163435.3(TBCK):c.2412-155del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1243903	NM_001163435.3(TBCK):c.2411+205C>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305149	NM_001163435.3(TBCK):c.2252del (p.Pro751fs)	TBCK (P579fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1281126	NM_001163435.3(TBCK):c.2236-95G>A	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253146	NM_001163435.3(TBCK):c.2236-120T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268578	NM_001163435.3(TBCK):c.2235+83T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696868	NM_001163435.3(TBCK):c.2154del (p.Lys718fs)	TBCK (K546fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 225239	NM_001163435.3(TBCK):c.2060-2A>G	TBCK	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic/Likely pathogenic
Select item 1246647	NM_001163435.3(TBCK):c.2060-140dup	TBCK	Duplication (intron variant)	not provided	GBenign
Select item 2412970	NM_001163435.3(TBCK):c.1975G>A (p.Gly659Arg)	TBCK (G487R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1286191	NM_001163435.3(TBCK):c.1897+210G>T	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275662	NM_001163435.3(TBCK):c.1897+191A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 183338	NM_001163435.3(TBCK):c.1897+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GPathogenic
Select item 1273626	NM_001163435.3(TBCK):c.1861-49T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239352	NM_001163435.3(TBCK):c.1860+35dup	TBCK	Duplication (intron variant)	not provided	GBenign
Select item 1282094	NM_001163435.3(TBCK):c.1860+45del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1164467	NM_001163435.3(TBCK):c.1848T>C (p.Gly616=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3375710	NM_001163435.3(TBCK):c.1823T>C (p.Leu608Pro)	TBCK (L436P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373291	NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)	TBCK (Q591* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic/Likely pathogenic
Select item 504336	NM_001163435.3(TBCK):c.1740CTT[2] (p.Phe582del)	TBCK (F582del +3 more)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2692227	NM_001163435.3(TBCK):c.1727_1728insGAAGTT (p.Lys576_Tyr577insLysLeu)	TBCK	Insertion	not provided	GUncertain significance
Select item 1166224	NM_001163435.3(TBCK):c.1707T>C (p.Cys569=)	TBCK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1221783	NM_001163435.3(TBCK):c.1639+76del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1175036	NM_001163435.3(TBCK):c.1635G>A (p.Trp545Ter)	TBCK (W373* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1224715	NM_001163435.3(TBCK):c.1513-52A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241151	NM_001163435.3(TBCK):c.1450-45A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277759	NM_001163435.3(TBCK):c.1450-98del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1282343	NM_001163435.3(TBCK):c.1449+61G>C	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817670	NM_001163435.3(TBCK):c.1398_1399insTTAA (p.Ile467fs)	TBCK (I467fs +3 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2430641	NM_001163435.3(TBCK):c.1397A>T (p.Asp466Val)	TBCK (D294V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986992	NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)	TBCK (N285fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225236	NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)	TBCK (K455* +3 more)	Single nucleotide variant (nonsense)	TBCK-related disorder +1 more	GPathogenic
Select item 1258874	NM_001163435.3(TBCK):c.1351-111A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507068	NM_001163435.3(TBCK):c.1336G>A (p.Asp446Asn)	TBCK (D274N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263211	NM_001163435.3(TBCK):c.1221-25_1221-24del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1246626	NM_001163435.3(TBCK):c.1221-24del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1272430	NM_001163435.3(TBCK):c.1171-183G>T	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260613	NM_001163435.3(TBCK):c.1170+69G>A	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430638	NM_001163435.3(TBCK):c.1151C>T (p.Ser384Leu)	TBCK (S212L +3 more)	Single nucleotide variant (missense variant)	not provided	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 1678860	NM_001163435.3(TBCK):c.1108C>T (p.Arg370Ter)	TBCK (R198* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1710609	NM_001163435.3(TBCK):c.1088G>C (p.Gly363Ala)	TBCK (G191A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269288	NM_001163435.3(TBCK):c.1071-47A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235706	NM_001163435.3(TBCK):c.1070+98A>T	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263234	NM_001163435.3(TBCK):c.1070+97del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 430512	NM_001163435.3(TBCK):c.1039C>T (p.Arg347Ter)	TBCK (R347* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1267939	NM_001163435.3(TBCK):c.931+195G>C	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 225240	NM_001163435.3(TBCK):c.803_806del (p.Met268fs)	TBCK (M205fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1243067	NM_001163435.3(TBCK):c.783-76C>A	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235150	NM_001163435.3(TBCK):c.783-84T>C	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429339	NM_001163435.3(TBCK):c.753dup (p.Lys252Ter)	TBCK (K213* +3 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 1164469	NM_001163435.3(TBCK):c.598-7_598-3del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1165343	NM_001163435.3(TBCK):c.598-12C>T	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226081	NM_001163435.3(TBCK):c.598-27A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277939	NM_001163435.3(TBCK):c.597+222A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1033753	NM_001163435.3(TBCK):c.531dup (p.Pro178fs)	TBCK (P115fs +2 more)	Duplication (frameshift variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic/Likely pathogenic
Select item 1220554	NM_001163435.3(TBCK):c.456-181T>A	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
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 987451	NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter)	TBCK (Q102*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 1228836	NM_001163435.3(TBCK):c.266+177_266+178del	TBCK	Deletion (intron variant)	not provided	GBenign
Select item 1251241	NM_001163435.3(TBCK):c.266+139A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165502	NM_001163435.3(TBCK):c.266+10dup	TBCK	Duplication (intron variant)	not provided	GBenign
Select item 1180828	NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)	TBCK (R83*)	Single nucleotide variant (nonsense +1 more)	Abnormality of the nervous system +2 more	GPathogenic/Likely pathogenic
Select item 1413805	NM_001163435.3(TBCK):c.230G>A (p.Ser77Asn)	TBCK (S77N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1257045	NM_001163435.3(TBCK):c.194-93G>A	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291664	NM_001163435.3(TBCK):c.-29-217A>G	TBCK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272300	NM_004757.4(AIMP1):c.-132C>T	AIMP1, TBCK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243501	NM_004757.4(AIMP1):c.-39C>T	AIMP1, TBCK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 70