"Ambry Genetics"[submitter] AND "GMFG"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320384	NM_004877.4(GMFG):c.425G>T (p.Arg142Leu)	GMFG (R101L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496517	NM_004877.4(GMFG):c.227T>G (p.Val76Gly)	GMFG (V35G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601448	NM_004877.4(GMFG):c.185C>G (p.Pro62Arg)	GMFG (P62R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512411	NM_004877.4(GMFG):c.185C>T (p.Pro62Leu)	GMFG (P29L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605296	NM_004877.4(GMFG):c.145T>C (p.Phe49Leu)	GMFG (F49L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607918	NM_004877.4(GMFG):c.134T>C (p.Leu45Pro)	GMFG (L45P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100481	NM_004877.4(GMFG):c.118C>G (p.Arg40Gly)	GMFG (R7G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494258	NM_004877.4(GMFG):c.82G>A (p.Asp28Asn)	GMFG (D28N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3100483	NM_004877.4(GMFG):c.76G>C (p.Glu26Gln)	GMFG (E26Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374031	NM_004877.4(GMFG):c.64C>T (p.Arg22Cys)	GMFG (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537365	NM_004877.4(GMFG):c.35C>T (p.Pro12Leu)	GMFG (P12L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2556238	NM_004877.4(GMFG):c.26A>C (p.Glu9Ala)	GMFG (E9A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance