"Ambry Genetics"[submitter] AND "LOC126863097"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267911	NM_007098.4(CLTCL1):c.1435T>G (p.Tyr479Asp)	CLTCL1, LOC126863097 (Y479D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146099	NM_007098.4(CLTCL1):c.1406C>A (p.Thr469Asn)	CLTCL1, LOC126863097 (T469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405569	NM_007098.4(CLTCL1):c.1390G>A (p.Gly464Arg)	CLTCL1, LOC126863097 (G464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237010	NM_007098.4(CLTCL1):c.1334A>T (p.Lys445Met)	CLTCL1, LOC126863097 (K445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237009	NM_007098.4(CLTCL1):c.1331G>T (p.Arg444Leu)	CLTCL1, LOC126863097 (R444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146098	NM_007098.4(CLTCL1):c.1255G>A (p.Gly419Arg)	CLTCL1, LOC126863097 (G419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287317	NM_007098.4(CLTCL1):c.1237C>T (p.Pro413Ser)	CLTCL1, LOC126863097 (P413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146097	NM_007098.4(CLTCL1):c.1211T>C (p.Ile404Thr)	CLTCL1, LOC126863097 (I404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526464	NM_007098.4(CLTCL1):c.1190C>T (p.Thr397Met)	CLTCL1, LOC126863097 (T397M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance