Related gene-specific medical variations for Gene (Select 64976) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2719926	NM_003776.4(MRPL40):c.27C>G (p.Ile9Met)	LOC130066955, MRPL40 (I9M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2353425	NM_003776.4(MRPL40):c.13G>C (p.Val5Leu)	LOC130066955, MRPL40 (V5L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2072192	NM_003776.4(MRPL40):c.11C>A (p.Ser4Tyr)	LOC130066955, MRPL40 (S4Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2053351	NM_003776.4(MRPL40):c.12C>T (p.Ser4=)	LOC130066955, MRPL40	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1925841	NM_003776.4(MRPL40):c.2T>C (p.Met1Thr)	LOC130066955, MRPL40 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1534195	NM_003776.4(MRPL40):c.32T>C (p.Leu11Pro)	LOC130066955, MRPL40 (L11P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1436468	NM_003776.4(MRPL40):c.10T>C (p.Ser4Pro)	LOC130066955, MRPL40 (S4P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar