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

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2461362	NM_207338.4(LCTL):c.1618A>G (p.Thr540Ala)	LCTL, ZWILCH (T540A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285734	NM_207338.4(LCTL):c.1608G>A (p.Met536Ile)	ZWILCH, LCTL (M363I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469350	NM_207338.4(LCTL):c.1510C>G (p.Pro504Ala)	LCTL (P331A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255904	NM_207338.4(LCTL):c.1505G>C (p.Gly502Ala)	LCTL (G502A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471061	NM_207338.4(LCTL):c.1426G>A (p.Val476Ile)	LCTL (V303I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305199	NM_207338.4(LCTL):c.1376A>G (p.Asp459Gly)	LCTL (D459G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2514948	NM_207338.4(LCTL):c.1316T>C (p.Met439Thr)	LCTL (M234T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590184	NM_207338.4(LCTL):c.1241C>A (p.Ala414Glu)	LCTL (A241E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599869	NM_207338.4(LCTL):c.1121C>A (p.Pro374Gln)	LCTL (P201Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260204	NM_207338.4(LCTL):c.1070G>A (p.Arg357His)	LCTL (R152H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381923	NM_207338.4(LCTL):c.1049C>T (p.Thr350Met)	LCTL (T145M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2247285	NM_207338.4(LCTL):c.1036A>G (p.Thr346Ala)	LCTL (T346A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557376	NM_207338.4(LCTL):c.950A>G (p.Glu317Gly)	LCTL (E112G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247927	NM_207338.4(LCTL):c.890G>A (p.Gly297Asp)	LCTL (G297D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364199	NM_207338.4(LCTL):c.874A>G (p.Asn292Asp)	LCTL (N292D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244973	NM_207338.4(LCTL):c.811A>G (p.Ser271Gly)	LCTL (S271G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314731	NM_207338.4(LCTL):c.794G>A (p.Gly265Glu)	LCTL (G60E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475969	NM_207338.4(LCTL):c.772A>T (p.Ile258Phe)	LCTL (I85F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363243	NM_207338.4(LCTL):c.740C>T (p.Thr247Met)	LCTL (T247M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366438	NM_207338.4(LCTL):c.712G>A (p.Ala238Thr)	LCTL (A238T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318115	NM_207338.4(LCTL):c.673G>A (p.Gly225Ser)	LCTL (G225S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376017	NM_207338.4(LCTL):c.650C>T (p.Pro217Leu)	LCTL (P217L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225508	NM_207338.4(LCTL):c.649C>A (p.Pro217Thr)	LCTL (P217T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374605	NM_207338.4(LCTL):c.478C>A (p.Gln160Lys)	LCTL (Q160K)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2289924	NM_207338.4(LCTL):c.353T>C (p.Leu118Pro)	LCTL (L118P)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2609870	NM_207338.4(LCTL):c.166T>A (p.Trp56Arg)	LCTL (W56R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2616060	NM_207338.4(LCTL):c.149A>T (p.Tyr50Phe)	LCTL (Y50F)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2540579	NM_207338.4(LCTL):c.98A>G (p.Tyr33Cys)	LCTL (Y33C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358082	NM_207338.4(LCTL):c.92C>G (p.Ser31Cys)	LCTL (S31C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492689	NM_207338.4(LCTL):c.64G>T (p.Ala22Ser)	LCTL (A22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546930	NM_207338.4(LCTL):c.59G>A (p.Gly20Glu)	LCTL (G20E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 31