"Ambry Genetics"[submitter] AND "TLCD5"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326278	NM_001198671.2(TLCD5):c.-1-55G>A	TLCD5 (C4Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532578	NM_001198671.2(TLCD5):c.-1-7A>G	TLCD5 (H20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326277	NM_001198671.2(TLCD5):c.53C>T (p.Ser18Leu)	TLCD5 (S18L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177771	NM_001198671.2(TLCD5):c.59A>G (p.Tyr20Cys)	TLCD5 (Y20C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177772	NM_001198671.2(TLCD5):c.65C>A (p.Ser22Tyr)	TLCD5 (S22Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177773	NM_001198671.2(TLCD5):c.94T>C (p.Tyr32His)	TLCD5 (Y54H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177774	NM_001198671.2(TLCD5):c.139T>C (p.Ser47Pro)	TLCD5 (S47P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177775	NM_001198671.2(TLCD5):c.161T>C (p.Ile54Thr)	TLCD5 (I76T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177776	NM_001198671.2(TLCD5):c.209A>G (p.Asn70Ser)	TLCD5 (N92S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177777	NM_001198671.2(TLCD5):c.212C>T (p.Thr71Ile)	TLCD5 (T93I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177778	NM_001198671.2(TLCD5):c.227A>G (p.His76Arg)	TLCD5 (H76R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177779	NM_001198671.2(TLCD5):c.277G>A (p.Val93Ile)	TLCD5 (V93I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3177780	NM_001198671.2(TLCD5):c.410A>G (p.Asn137Ser)	TLCD5 (N137S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460832	NM_001198671.2(TLCD5):c.428G>A (p.Arg143His)	TLCD5 (R42H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177781	NM_001198671.2(TLCD5):c.439C>T (p.Arg147Trp)	TLCD5 (R46W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177782	NM_001198671.2(TLCD5):c.455A>G (p.Tyr152Cys)	TLCD5 (Y51C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177783	NM_001198671.2(TLCD5):c.494T>A (p.Val165Glu)	TLCD5 (V165E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519266	NM_001198671.2(TLCD5):c.529G>A (p.Ala177Thr)	TLCD5 (A199T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177784	NM_001198671.2(TLCD5):c.543C>A (p.Phe181Leu)	TLCD5 (F181L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600425	NM_001198671.2(TLCD5):c.560C>T (p.Pro187Leu)	TLCD5 (P187L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472658	NM_001198671.2(TLCD5):c.637C>T (p.Arg213Cys)	TLCD5 (R235C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326276	NM_001198671.2(TLCD5):c.638G>A (p.Arg213His)	TLCD5 (R116H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177785	NM_001198671.2(TLCD5):c.701G>A (p.Arg234Gln)	TLCD5 (R234Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23