Related gene-specific medical variations for Gene (Select 340419) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054742	NM_178565.5(RSPO2):c.57C>T (p.Ser19=)	LOC124174315, RSPO2	Single nucleotide variant (synonymous variant)	RSPO2-related disorder	GLikely benign
Select item 3051547	NM_178565.5(RSPO2):c.-6G>A	LOC124174315, RSPO2	Single nucleotide variant (5 prime UTR variant)	RSPO2-related disorder	GLikely benign
Select item 2881057	NM_178565.5(RSPO2):c.65A>G (p.Gln22Arg)	LOC124174315, RSPO2 (Q22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782001	NM_178565.5(RSPO2):c.34A>G (p.Ile12Val)	LOC124174315, RSPO2 (I12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741795	NM_178565.5(RSPO2):c.94+17C>T	LOC124174315, RSPO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2329505	NM_178565.5(RSPO2):c.40A>C (p.Asn14His)	LOC124174315, RSPO2 (N14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2155351	NM_178565.5(RSPO2):c.72C>G (p.Asn24Lys)	LOC124174315, RSPO2 (N24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092807	NM_178565.5(RSPO2):c.30C>T (p.Leu10=)	LOC124174315, RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055682	NM_178565.5(RSPO2):c.84C>T (p.Arg28=)	LOC124174315, RSPO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183697	NM_178565.5(RSPO2):c.94+26G>A	RSPO2, LOC124174315	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689068	GRCh37/hg19 8q23.1(chr8:108646365-108942281)x3	RSPO2	Copy number gain	not provided	GUncertain significance
Select item 686219	GRCh37/hg19 8q23.1(chr8:109005377-109197390)x1	RSPO2	Copy number loss	not provided	GPathogenic