"Ambry Genetics"[submitter] AND "CALHM4"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181995	NM_001139444.3(TRAPPC3L):c.224T>C (p.Ile75Thr)	CALHM4, TRAPPC3L (I75T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2327156	NM_001139444.3(TRAPPC3L):c.62T>C (p.Leu21Pro)	CALHM4, TRAPPC3L (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181997	NM_001139444.3(TRAPPC3L):c.52C>T (p.Leu18Phe)	CALHM4, TRAPPC3L (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552416	NM_001366078.2(CALHM4):c.572T>C (p.Ile191Thr)	CALHM4 (I5T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136709	NM_001366078.2(CALHM4):c.718T>C (p.Ser240Pro)	CALHM4 (S240P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136710	NM_001366078.2(CALHM4):c.721C>T (p.Arg241Trp)	CALHM4 (R97W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136711	NM_001366078.2(CALHM4):c.734T>C (p.Met245Thr)	CALHM4 (M59T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136712	NM_001366078.2(CALHM4):c.740G>A (p.Arg247His)	CALHM4 (R104H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596194	NM_001366078.2(CALHM4):c.781G>A (p.Val261Ile)	CALHM4 (V117I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136713	NM_001366078.2(CALHM4):c.785A>G (p.Lys262Arg)	CALHM4 (K119R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136714	NM_001366078.2(CALHM4):c.805T>G (p.Cys269Gly)	CALHM4 (C125G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136715	NM_001366078.2(CALHM4):c.877T>C (p.Phe293Leu)	CALHM4 (F293L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance