Related gene-specific medical variations for Gene (Select 55599) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377745	NM_017619.4(RNPC3):c.48CTC[2] (p.Ser19del)	RNPC3, LOC129931062 (S19del)	Microsatellite	Isolated growth hormone deficiency, type 5	GUncertain significance
Select item 3068053	NM_017619.4(RNPC3):c.1421C>T (p.Pro474Leu)	RNPC3 (P474L)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GUncertain significance
Select item 2442236	NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)	RNPC3 (D287N)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GUncertain significance
Select item 1064672	NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe)	RNPC3 (L483F)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 1064671	NM_017619.4(RNPC3):c.1421del (p.Pro474fs)	RNPC3 (P474fs)	Deletion (frameshift variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 1064670	NM_017619.4(RNPC3):c.624+1G>T	RNPC3	Single nucleotide variant (splice donor variant)	Decreased response to growth hormone stimulation test	GPathogenic
Select item 736099	NM_017619.4(RNPC3):c.24T>G (p.Leu8=)	LOC129931062, RNPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar