Related gene-specific medical variations for Gene (Select 11011) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236636	NM_006852.6(TLK2):c.2133G>C (p.Gln711His)	TLK2 (Q562H +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 3065405	NM_006852.6(TLK2):c.1783T>C (p.Ser595Pro)	TLK2 (S446P +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 3025464	NM_006852.6(TLK2):c.912C>T (p.His304=)	LOC126862611, TLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920708	NM_006852.6(TLK2):c.944G>T (p.Gly315Val)	LOC126862611, TLK2 (G220V +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 2690239	NM_006852.6(TLK2):c.1310A>G (p.Asn437Ser)	TLK2 (N288S +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 2648025	NM_006852.6(TLK2):c.-6+235G>C	LOC130061370, TLK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616837	NM_006852.6(TLK2):c.964A>C (p.Ile322Leu)	LOC126862611, TLK2 (I336L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444583	NM_006852.6(TLK2):c.968+1G>T	LOC126862611, TLK2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2437102	NM_006852.6(TLK2):c.362C>T (p.Pro121Leu)	TLK2 (P121L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 2429910	NM_006852.6(TLK2):c.1286+5G>A	TLK2	Single nucleotide variant (intron variant)	Developmental disorder	GLikely pathogenic
Select item 1806738	NM_006852.6(TLK2):c.-6+1G>T	LOC130061370, TLK2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1696516	NM_006852.6(TLK2):c.1369-8C>T	TLK2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 1694856	NM_006852.6(TLK2):c.-6+223_-6+229dup	LOC130061370, TLK2 (R15fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1693285	NM_006852.6(TLK2):c.870G>A (p.Met290Ile)	TLK2 (M141I +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 1315249	NM_006852.6(TLK2):c.968+6T>C	LOC126862611, TLK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1301690	NM_006852.6(TLK2):c.-25GGC[5]	LOC130061370, TLK2	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 987328	NM_006852.6(TLK2):c.1583del (p.Asn528fs)	TLK2 (N379fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986960	NM_006852.6(TLK2):c.600_601del (p.Gln200fs)	TLK2 (Q168fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986958	NM_006852.6(TLK2):c.968+2T>G	TLK2, LOC126862611	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 978135	NM_006852.6(TLK2):c.1648A>T (p.Met550Leu)	TLK2 (M401L +4 more)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 828197	NM_006852.6(TLK2):c.968+1G>A	LOC126862611, TLK2	Single nucleotide variant (splice donor variant)	TLK2-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 807711	NM_006852.6(TLK2):c.968+1G>C	LOC126862611, TLK2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder +1 more	GPathogenic
Select item 617937	NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter)	TLK2 (Q402* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617935	NM_006852.6(TLK2):c.37C>T (p.Gln13Ter)	TLK2 (Q13* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617933	NM_006852.6(TLK2):c.907C>T (p.Arg303Ter)	LOC126862611, TLK2 (R154* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 617932	NM_006852.6(TLK2):c.1273G>A (p.Glu425Lys)	TLK2 (E276K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 617928	NM_006852.6(TLK2):c.181C>T (p.Arg61Ter)	TLK2 (R61* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617923	NM_006852.6(TLK2):c.202G>T (p.Glu68Ter)	TLK2 (E68* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617916	NM_006852.6(TLK2):c.1016G>A (p.Arg339Gln)	TLK2 (R190Q +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 617915	NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg)	TLK2 (P509R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 617910	NM_006852.6(TLK2):c.1412A>G (p.His471Arg)	TLK2 (H322R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 617906	NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn)	TLK2 (D458N +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 524042	NM_006852.6(TLK2):c.947del (p.Tyr316fs)	LOC126862611, TLK2 (Y316fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic

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Links from Gene

Items: 33