Related gene-specific medical variations for Gene (Select 51409) - ClinVar - NCBI

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

Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284006	NM_016173.5(HEMK1):c.226A>G (p.Thr76Ala)	C3orf18, HEMK1 (T76A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105232	NM_016173.5(HEMK1):c.308G>A (p.Arg103His)	C3orf18, HEMK1 (R103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105231	NM_016173.5(HEMK1):c.307C>T (p.Arg103Cys)	C3orf18, HEMK1 (R103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105230	NM_016173.5(HEMK1):c.245C>T (p.Pro82Leu)	C3orf18, HEMK1 (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105229	NM_016173.5(HEMK1):c.110G>A (p.Gly37Glu)	C3orf18, HEMK1 (G37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464090	NM_016173.5(HEMK1):c.262C>G (p.Pro88Ala)	C3orf18, HEMK1 (P88A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381041	NM_016173.5(HEMK1):c.400C>T (p.Arg134Trp)	C3orf18, HEMK1 (R134W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343235	NM_016173.5(HEMK1):c.65G>A (p.Arg22Gln)	C3orf18, HEMK1 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2287664	NM_016173.5(HEMK1):c.272C>T (p.Ser91Phe)	C3orf18, HEMK1 (S91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209385	NM_016173.5(HEMK1):c.17G>A (p.Arg6Gln)	C3orf18, HEMK1 (R6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205222	NM_016173.5(HEMK1):c.202G>A (p.Val68Met)	C3orf18, HEMK1 (V68M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance