"OMIM"[submitter] AND "RSPO4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192	NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)	RSPO4 (C118Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1191	NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg)	RSPO4 (C107R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30845	NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)	RSPO4 (Q101*)	Single nucleotide variant (nonsense)	Anonychia	GPathogenic
Select item 1193	NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr)	RSPO4 (C73Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30847	NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg)	RSPO4 (G67R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1190	NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg)	RSPO4 (Q65R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30846	NM_001029871.4(RSPO4):c.190C>T (p.Arg64Cys)	RSPO4 (R64C)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1194	NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)	RSPO4 (N34fs)	Duplication (frameshift variant)	Anonychia	GUncertain significance

ClinVar