Related gene-specific medical variations for Gene (Select 254228) - ClinVar

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

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262977	NM_153711.5(CALHM5):c.854T>G (p.Val285Gly)	CALHM5, TRAPPC3L (V285G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262976	NM_153711.5(CALHM5):c.476G>A (p.Gly159Asp)	CALHM5, TRAPPC3L (G159D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136730	NM_153711.5(CALHM5):c.866T>C (p.Leu289Pro)	CALHM5, TRAPPC3L (L289P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136729	NM_153711.5(CALHM5):c.773C>T (p.Thr258Met)	CALHM5, TRAPPC3L (T258M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136728	NM_153711.5(CALHM5):c.644G>C (p.Trp215Ser)	CALHM5, TRAPPC3L (W215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136727	NM_153711.5(CALHM5):c.604C>T (p.Arg202Cys)	CALHM5, TRAPPC3L (R202C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136726	NM_153711.5(CALHM5):c.572C>G (p.Ser191Cys)	CALHM5, TRAPPC3L (S191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136725	NM_153711.5(CALHM5):c.569C>T (p.Ala190Val)	CALHM5, TRAPPC3L (A190V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136724	NM_153711.5(CALHM5):c.557T>C (p.Leu186Pro)	CALHM5, TRAPPC3L (L186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136723	NM_153711.5(CALHM5):c.530C>T (p.Ala177Val)	CALHM5, TRAPPC3L (A177V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136722	NM_153711.5(CALHM5):c.512T>C (p.Leu171Pro)	CALHM5, TRAPPC3L (L171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136721	NM_153711.5(CALHM5):c.473G>A (p.Cys158Tyr)	CALHM5, TRAPPC3L (C158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136720	NM_153711.5(CALHM5):c.387G>A (p.Met129Ile)	CALHM5, TRAPPC3L (M129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136719	NM_153711.5(CALHM5):c.343C>G (p.Leu115Val)	CALHM5, TRAPPC3L (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136718	NM_153711.5(CALHM5):c.310A>G (p.Thr104Ala)	CALHM5, TRAPPC3L (T104A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136717	NM_153711.5(CALHM5):c.270A>T (p.Arg90Ser)	CALHM5, TRAPPC3L (R90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136716	NM_153711.5(CALHM5):c.188T>C (p.Leu63Pro)	CALHM5, TRAPPC3L (L63P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614605	NM_153711.5(CALHM5):c.181G>C (p.Val61Leu)	CALHM5, TRAPPC3L (V61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482980	NM_153711.5(CALHM5):c.194T>C (p.Leu65Pro)	CALHM5, TRAPPC3L (L65P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2469904	NM_153711.5(CALHM5):c.860A>G (p.Asn287Ser)	CALHM5, TRAPPC3L (N287S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20