Related gene-specific medical variations for Gene (Select 493860) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310600	NM_024081.6(PRRG4):c.16G>A (p.Val6Ile)	CCDC73, LOC130005485 +1 more (V6I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264289	NM_001008391.4(CCDC73):c.3211A>G (p.Thr1071Ala)	CCDC73, EIF3M (T1071A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264285	NM_001008391.4(CCDC73):c.3180C>A (p.Asp1060Glu)	CCDC73, EIF3M (D1060E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139361	NM_001008391.4(CCDC73):c.3212C>G (p.Thr1071Arg)	CCDC73, EIF3M (T1071R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540110	NM_001008391.4(CCDC73):c.3126C>G (p.Ser1042Arg)	CCDC73, EIF3M (S1042R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464141	NM_001008391.4(CCDC73):c.3056C>T (p.Thr1019Ile)	CCDC73, EIF3M (T1019I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 815423	GRCh37/hg19 11p13(chr11:32726428-32839079)x1	CCDC73	Copy number loss	not provided	GUncertain significance

ClinVar