"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TLK2"[gene - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694856	NM_006852.6(TLK2):c.-6+223_-6+229dup	LOC130061370, TLK2 (R15fs)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal dominant 57 +1 more	GConflicting classifications of pathogenicity
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 2648026	NM_006852.6(TLK2):c.27C>T (p.Asp9=)	TLK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1176057	NM_006852.6(TLK2):c.56G>C (p.Arg19Thr)	TLK2 (R19T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648027	NM_006852.6(TLK2):c.94A>G (p.Ser32Gly)	TLK2 (S32G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871756	NM_006852.6(TLK2):c.154-5G>A	TLK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2648028	NM_006852.6(TLK2):c.224-8A>G	TLK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 620099	NM_006852.6(TLK2):c.364C>T (p.Arg122Ter)	TLK2 (R122* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 57 +1 more	GPathogenic
Select item 1298715	NM_006852.6(TLK2):c.419C>T (p.Thr140Met)	TLK2 (T108M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3025595	NM_006852.6(TLK2):c.510C>T (p.Gly170=)	TLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570995	NM_006852.6(TLK2):c.601A>T (p.Ile201Phe)	TLK2 (I169F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 617919	NM_006852.6(TLK2):c.784C>T (p.Arg262Ter)	TLK2 (R113* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57 +1 more	GPathogenic
Select item 3025464	NM_006852.6(TLK2):c.912C>T (p.His304=)	TLK2, LOC126862611	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 617926	NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)	TLK2 (R190W +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57 +1 more	GConflicting classifications of pathogenicity
Select item 1675684	NM_006852.6(TLK2):c.1052dup (p.Gln352fs)	TLK2 (Q203fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3026618	NM_006852.6(TLK2):c.1195G>A (p.Ala399Thr)	TLK2 (A250T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648029	NM_006852.6(TLK2):c.1460+3246T>C	TLK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2570996	NM_006852.6(TLK2):c.1726dup (p.Ile576fs)	TLK2 (I427fs +5 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 871757	NM_006852.6(TLK2):c.1778G>A (p.Gly593Asp)	TLK2 (G444D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2498717	NM_006852.6(TLK2):c.1811A>G (p.Asn604Ser)	TLK2 (N455S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176058	NM_006852.6(TLK2):c.1886T>C (p.Val629Ala)	TLK2 (V480A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648030	NM_006852.6(TLK2):c.2112G>A (p.Lys704=)	TLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808305	NM_006852.6(TLK2):c.2153A>G (p.Tyr718Cys)	TLK2 (Y569C +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1176059	NM_006852.6(TLK2):c.2171G>A (p.Arg724Gln)	TLK2 (R575Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2648031	NM_006852.6(TLK2):c.2238C>T (p.Asn746=)	TLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648032	NM_006852.6(TLK2):c.2241T>C (p.Ser747=)	TLK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 26