ClinVar for MedGen (Select 1798903) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233843	NC_000004.11:g.107169414_(107183370_107216250)del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 3233781	NC_000004.11:g.(107169464_107170077)_(107183370_107216250)del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 2692227	NM_001163435.3(TBCK):c.1727_1728insGAAGTT (p.Lys576_Tyr577insLysLeu)	TBCK	Insertion (inframe insertion)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2579177	GRCh38/hg38 4q24(chr4:106170998-106171368)x0	TBCK	Copy number loss	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 2574702	NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)	TBCK (Y156* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 2503409	NM_001163435.3(TBCK):c.1860+2T>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 2500894	NM_001163435.3(TBCK):c.1888_1889del (p.Met630fs)	TBCK (M458fs +3 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 2436979	NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)	TBCK (P297A +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2436978	NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)	TBCK (K289E +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2436977	NM_001163435.3(TBCK):c.193+2dup	TBCK	Duplication (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2070858	NM_001163435.3(TBCK):c.1588C>T (p.Arg530Cys)	TBCK (R467C +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GUncertain significance
Select item 1709636	NM_001163435.3(TBCK):c.134T>G (p.Leu45Arg)	TBCK (L45R)	Single nucleotide variant (missense variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1683548	NM_001163435.3(TBCK):c.677T>A (p.Leu226Ter)	TBCK (L163* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 1592110	NM_001163435.3(TBCK):c.60A>C (p.Pro20=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GConflicting classifications of pathogenicity
Select item 1543643	NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly)	TBCK (S618G +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +2 more	GConflicting classifications of pathogenicity
Select item 1463502	NM_001163435.3(TBCK):c.110A>T (p.Lys37Ile)	TBCK (K37I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1333794	NM_001163435.3(TBCK):c.347C>T (p.Ala116Val)	TBCK (A116V)	Single nucleotide variant (missense variant +2 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1327512	NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter)	TBCK (Y538* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 1327511	NM_001163435.3(TBCK):c.2060_2235del (p.Glu687fs)	TBCK (E515fs +3 more)	Deletion (frameshift variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 1325174	NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter)	TBCK (L248* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 1185558	NM_001163435.3(TBCK):c.737_738del (p.Val246fs)	TBCK (V183fs +3 more)	Microsatellite (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 1185557	NM_001163435.3(TBCK):c.557A>G (p.Asp186Gly)	TBCK (D123G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 1172767	NM_001163435.3(TBCK):c.389T>A (p.Ile130Asn)	TBCK (I130N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1168603	NM_001163435.3(TBCK):c.1898-20G>T	TBCK	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GBenign
Select item 1033754	NM_001163435.3(TBCK):c.658+4A>G	TBCK	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 1033752	NM_001163435.3(TBCK):c.381+1G>A	TBCK	Single nucleotide variant (intron variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic/Likely pathogenic
Select item 1033751	NM_001163435.3(TBCK):c.2284C>T (p.Arg762Trp)	TBCK (R699W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033750	NM_001163435.3(TBCK):c.1220+5G>A	TBCK	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1033749	NM_001163435.3(TBCK):c.1162C>A (p.Leu388Ile)	TBCK (L388I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029176	NM_001163435.3(TBCK):c.454G>C (p.Gly152Arg)	TBCK (G152R)	Single nucleotide variant (missense variant +2 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1029175	NM_001163435.3(TBCK):c.2428A>G (p.Ile810Val)	TBCK (I771V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029174	NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro)	TBCK (R744P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1029173	NM_001163435.3(TBCK):c.2370T>G (p.Ser790Arg)	TBCK (S727R +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1029172	NM_001163435.3(TBCK):c.2088A>C (p.Glu696Asp)	TBCK (E524D +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 986992	NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)	TBCK (N285fs +3 more)	Duplication (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic/Likely pathogenic
Select item 984709	NM_001163435.3(TBCK):c.193+1G>T	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 978028	NM_001163435.3(TBCK):c.2060-6793_2235+427del	TBCK	Deletion (splice acceptor variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 977749	NM_001163435.3(TBCK):c.456-2A>G	TBCK	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 977748	NC_000004.12:g.106168703_106217941del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 977525	NM_001163435.3(TBCK):c.1584dup (p.Arg529Ter)	TBCK (R529X +3 more)	Duplication (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 976465	NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter)	TBCK (Q543* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 974885	NM_001163435.3(TBCK):c.1170+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 932113	NM_001163435.3(TBCK):c.1351-1G>A	TBCK	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GLikely pathogenic
Select item 915974	GRCh37/hg19 4q24(chr4:107092252-107092428)	TBCK	Copy number loss	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 915385	NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)	TBCK (S657F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 811423	NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys)	TBCK (R269K +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 807703	NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys)	TBCK (W626C +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 807702	NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys)	TBCK (F588C +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 804443	NM_001163435.3(TBCK):c.1854del (p.Pro619fs)	TBCK (P580fs +3 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 802081	NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu)	TBCK (Q266E +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GBenign
Select item 732178	NM_001163435.3(TBCK):c.974T>C (p.Val325Ala)	TBCK (V153A +3 more)	Single nucleotide variant (missense variant)	TBCK-related disorder +2 more	GBenign/Likely benign
Select item 638602	NM_001163435.2(TBCK):c.2060-9050_2235+26133del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 638592	NM_001163435.3(TBCK):c.659-1G>A	TBCK	Single nucleotide variant (splice acceptor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
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 636243	NM_001163435.3(TBCK):c.1860+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic
Select item 635859	NM_001163435.3(TBCK):c.658+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic
Select item 587548	NM_001163435.3(TBCK):c.360_363del (p.His120fs)	TBCK (H120fs)	Deletion (frameshift variant +2 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 584451	NM_001163435.3(TBCK):c.2060_2235+1del	TBCK	Deletion (splice acceptor variant +1 more)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 431722	NM_001163435.3(TBCK):c.783G>T (p.Arg261Ser)	TBCK (R261S +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GUncertain significance
Select item 429339	NM_001163435.3(TBCK):c.753dup (p.Lys252Ter)	TBCK (K213* +3 more)	Duplication (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic
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 225241	NM_001163435.3(TBCK):c.1370del (p.Asn457fs)	TBCK (N394fs +3 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 225240	NM_001163435.3(TBCK):c.803_806del (p.Met268fs)	TBCK (M205fs +3 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +1 more	GPathogenic
Select item 225239	NM_001163435.3(TBCK):c.2060-2A>G	TBCK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225238	NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs)	TBCK (P239fs +3 more)	Insertion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 225237	NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)	TBCK (R511H +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +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 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 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

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Items: 70