"PHRF1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048602	NM_001286581.2(PHRF1):c.694G>C (p.Ala232Pro)	PHRF1 (A228P +2 more)	Single nucleotide variant (missense variant)	PHRF1-related disorder	GLikely benign
Select item 3042453	NM_001286581.2(PHRF1):c.2224G>A (p.Gly742Arg)	PHRF1 (G738R +3 more)	Single nucleotide variant (missense variant)	PHRF1-related disorder	GBenign
Select item 3051722	NM_001286581.2(PHRF1):c.3051_3060del (p.Ser1019fs)	PHRF1 (S1015fs +3 more)	Deletion (frameshift variant)	PHRF1-related disorder	GLikely benign
Select item 3051023	NM_001286581.2(PHRF1):c.3065_3066del (p.Arg1022fs)	PHRF1 (R1018fs +3 more)	Microsatellite (frameshift variant)	PHRF1-related disorder	GLikely benign
Select item 2631371	NM_001286581.2(PHRF1):c.3275G>C (p.Arg1092Pro)	PHRF1 (R1088P +3 more)	Single nucleotide variant (missense variant)	PHRF1-related disorder	GUncertain significance
Select item 3050036	NM_001286581.2(PHRF1):c.3541C>T (p.Arg1181Cys)	PHRF1 (R1177C +3 more)	Single nucleotide variant (missense variant)	PHRF1-related disorder	GLikely benign
Select item 719473	NM_001286581.2(PHRF1):c.4369A>G (p.Ser1457Gly)	PHRF1 (S1453G +3 more)	Single nucleotide variant (missense variant)	PHRF1-related disorder +1 more	GLikely benign
Select item 3043655	NM_001286581.2(PHRF1):c.4913C>T (p.Ala1638Val)	PHRF1 (A1634V +3 more)	Single nucleotide variant (missense variant)	PHRF1-related disorder	GLikely benign

ClinVar