"Ambry Genetics"[submitter] AND "MDFIC"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230272	NM_001166345.3(MDFIC):c.-317T>A	MDFIC (V4D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551271	NM_001166345.3(MDFIC):c.-309G>A	MDFIC (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551272	NM_001166345.3(MDFIC):c.-308C>A	MDFIC (A7D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221379	NM_001166345.3(MDFIC):c.-303G>A	MDFIC (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283769	NM_001166345.3(MDFIC):c.-269T>A	MDFIC (L20Q)	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 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 3293791	NM_001166345.3(MDFIC):c.-198G>T	LOC129999150, MDFIC (G44C)	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 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 3293793	NM_001166345.3(MDFIC):c.-98G>T	MDFIC (S77I)	Single nucleotide variant (5 prime UTR variant +1 more)	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
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 3293794	NM_001166345.3(MDFIC):c.125A>C (p.Asp42Ala)	MDFIC (D151A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230397	NM_001166345.3(MDFIC):c.125A>G (p.Asp42Gly)	MDFIC (D151G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218633	NM_001166345.3(MDFIC):c.129A>G (p.Ile43Met)	MDFIC (I43M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124557	NM_001166345.3(MDFIC):c.167T>A (p.Met56Lys)	MDFIC (M165K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309913	NM_001166345.3(MDFIC):c.190A>G (p.Asn64Asp)	MDFIC (N173D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124558	NM_001166345.3(MDFIC):c.211A>T (p.Ile71Phe)	MDFIC (I71F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293792	NM_001166345.3(MDFIC):c.229C>T (p.Arg77Cys)	MDFIC (R77C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124559	NM_001166345.3(MDFIC):c.281G>A (p.Gly94Asp)	MDFIC (G203D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124560	NM_001166345.3(MDFIC):c.304G>T (p.Gly102Cys)	MDFIC (G211C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473975	NM_001166345.3(MDFIC):c.317G>T (p.Gly106Val)	MDFIC (G106V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287001	NM_001166345.3(MDFIC):c.317G>A (p.Gly106Glu)	MDFIC (G106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124561	NM_001166345.3(MDFIC):c.352G>A (p.Ala118Thr)	MDFIC (A118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124562	NM_001166345.3(MDFIC):c.362G>A (p.Arg121His)	MDFIC (R121H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456167	NM_001166345.3(MDFIC):c.376C>T (p.Pro126Ser)	MDFIC (P126S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388464	NM_001166345.3(MDFIC):c.383C>T (p.Ser128Phe)	MDFIC (S128F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124563	NM_001166345.3(MDFIC):c.466T>C (p.Ser156Pro)	MDFIC (S156P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124564	NM_001166345.3(MDFIC):c.553A>G (p.Ile185Val)	MDFIC (I294V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406983	NM_001166345.3(MDFIC):c.601T>C (p.Cys201Arg)	MDFIC (C310R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483685	NM_001166345.3(MDFIC):c.619G>A (p.Glu207Lys)	MDFIC (E316K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33