Related gene-specific medical variations for Gene (Select 8030) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139229	NM_005436.5(CCDC6):c.524T>G (p.Met175Arg)	CCDC6, LOC124403959 (M175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139228	NM_005436.5(CCDC6):c.142G>A (p.Gly48Ser)	CCDC6, LOC130003859 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608872	NM_005436.5(CCDC6):c.94G>A (p.Gly32Ser)	CCDC6, LOC130003860 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322129	NM_005436.5(CCDC6):c.40G>T (p.Gly14Trp)	CCDC6, LOC130003860 (G14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216655	NM_005436.5(CCDC6):c.37G>A (p.Ala13Thr)	CCDC6, LOC130003860 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709698	NM_005436.5(CCDC6):c.462T>C (p.His154=)	CCDC6, LOC124403959	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar