Related gene-specific medical variations for Gene (Select 64800) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087491	NM_022785.4(EFCAB6):c.4142A>G (p.Tyr1381Cys)	EFCAB6, EFCAB6-AS1 (Y1381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685681	GRCh37/hg19 22q13.2(chr22:44059189-44180197)x1	EFCAB6	Copy number loss	not provided	GUncertain significance
Select item 2614603	NM_022785.4(EFCAB6):c.4079G>A (p.Ser1360Asn)	EFCAB6, EFCAB6-AS1 (S1208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568558	NM_022785.4(EFCAB6):c.4279C>T (p.Arg1427Cys)	EFCAB6, EFCAB6-AS1 (R1275C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459899	NM_022785.4(EFCAB6):c.4370C>T (p.Ala1457Val)	EFCAB6, EFCAB6-AS1 (A1457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357875	NM_022785.4(EFCAB6):c.4243G>A (p.Gly1415Ser)	EFCAB6, EFCAB6-AS1 (G1263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324925	NM_022785.4(EFCAB6):c.4202A>G (p.His1401Arg)	EFCAB6, EFCAB6-AS1 (H1249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161763	NM_022785.4(EFCAB6):c.314C>T (p.Pro105Leu)	EFCAB6 (P105L)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance

ClinVar