Related gene-specific medical variations for Gene (Select 94122) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283315	NM_012274.2(H2AP):c.236G>A (p.Arg79His)	H2AP, SYTL5 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283314	NM_012274.2(H2AP):c.124G>A (p.Val42Ile)	H2AP, SYTL5 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257637	NM_001395555.1(H2AL3):c.367A>G (p.Lys123Glu)	H2AL3, SYTL5 (K123E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3103759	NM_012274.2(H2AP):c.272A>G (p.Asn91Ser)	H2AP, SYTL5 (N91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103758	NM_012274.2(H2AP):c.101G>A (p.Arg34His)	H2AP, SYTL5 (R34H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 599548	NM_012274.2(H2AP):c.321_322del (p.Phe107fs)	H2AP, SYTL5 (F107fs)	Deletion (frameshift variant)	Short stature	GPathogenic

ClinVar