Related gene-specific medical variations for Gene (Select 29969) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124556	NM_001166345.3(MDFIC):c.-116G>T	MDFIC, LOC129999151 (G71V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621934	NM_001166345.3(MDFIC):c.-174T>C	LOC129999151, MDFIC (F52L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550035	NM_001166345.3(MDFIC):c.-224T>A	LOC129999150, MDFIC (V35D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393335	NM_001166345.3(MDFIC):c.-225G>A	LOC129999150, MDFIC (V35I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320633	NM_001166345.3(MDFIC):c.37G>T (p.Val13Leu)	LOC129999152, MDFIC (V13L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278170	NM_001166345.3(MDFIC):c.1A>C (p.Met1Leu)	LOC129999152, MDFIC (M110L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251641	NM_001166345.3(MDFIC):c.2T>A (p.Met1Lys)	LOC129999152, MDFIC (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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