Related gene-specific medical variations for Gene (Select 127281) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295245	NM_033467.4(MMEL1):c.2332G>A (p.Val778Met)	MMEL1, PRXL2B (V778M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219778	NM_033467.4(MMEL1):c.2303C>A (p.Thr768Asn)	MMEL1, PRXL2B (T768N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3219682	NM_033467.4(MMEL1):c.2286C>A (p.Phe762Leu)	MMEL1, PRXL2B (F762L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2409143	NM_033467.4(MMEL1):c.2275G>A (p.Ala759Thr)	MMEL1, PRXL2B (A759T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2364602	NM_033467.4(MMEL1):c.2296C>T (p.Arg766Trp)	MMEL1, PRXL2B (R766W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2308353	NM_033467.4(MMEL1):c.2288A>G (p.His763Arg)	MMEL1, PRXL2B (H763R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2231279	NM_033467.4(MMEL1):c.2311C>T (p.His771Tyr)	MMEL1, PRXL2B (H771Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

ClinVar