CLTRN[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267930	NM_020665.6(CLTRN):c.644A>G (p.Glu215Gly)	CLTRN (E215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480971	NM_020665.6(CLTRN):c.607A>C (p.Met203Leu)	CLTRN (M203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598284	NM_020665.6(CLTRN):c.597T>A (p.Asp199Glu)	CLTRN (D199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461903	NM_020665.6(CLTRN):c.524A>G (p.Glu175Gly)	CLTRN (E175G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146128	NM_020665.6(CLTRN):c.489A>T (p.Leu163Phe)	CLTRN (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146126	NM_020665.6(CLTRN):c.479T>A (p.Leu160Gln)	CLTRN (L160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146125	NM_020665.6(CLTRN):c.137A>T (p.Glu46Val)	CLTRN (E46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267931	NM_020665.6(CLTRN):c.130A>G (p.Thr44Ala)	CLTRN (T44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146124	NM_020665.6(CLTRN):c.127G>T (p.Asp43Tyr)	CLTRN (D43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146123	NM_020665.6(CLTRN):c.124T>C (p.Trp42Arg)	CLTRN (W42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808938	GRCh37/hg19 Xp22.2(chrX:15659207-15714937)x0	CLTRN	Copy number loss	not provided	GUncertain significance
Select item 691618	Single allele	CLTRN	Deletion	Aminoaciduria	GPathogenic
Select item 632559	Single allele	CLTRN	Deletion	Aminoaciduria	GPathogenic