Related gene-specific medical variations for Gene (Select 196441) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2531265	NM_144982.5(ZFC3H1):c.107T>C (p.Ile36Thr)	LOC130008291, ZFC3H1 (I36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517213	NM_144982.5(ZFC3H1):c.121A>G (p.Ser41Gly)	LOC130008291, ZFC3H1 (S41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335910	NM_144982.5(ZFC3H1):c.46C>G (p.Pro16Ala)	LOC130008291, ZFC3H1 (P16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285080	NM_144982.5(ZFC3H1):c.127A>C (p.Ser43Arg)	LOC130008291, ZFC3H1 (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623814	NM_144982.5(ZFC3H1):c.853G>A (p.Val285Ile)	ZFC3H1 (V285I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599529	NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His)	ZFC3H1 (R316H)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599528	NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro)	ZFC3H1 (L1962P)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

ClinVar