"GeneDx"[submitter] AND "NEMF"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973823	NM_004713.6(NEMF):c.2777C>T (p.Pro926Leu)	NEMF (P905L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 973828	NM_004713.6(NEMF):c.2768del (p.Lys923fs)	NEMF (K902fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3342433	NM_004713.6(NEMF):c.2587dup (p.Ala863fs)	NEMF (A842fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3372519	NM_004713.6(NEMF):c.2333C>T (p.Pro778Leu)	NEMF (P757L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973826	NM_004713.6(NEMF):c.2011C>T (p.Arg671Ter)	NEMF (R650* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3364860	NM_004713.6(NEMF):c.1762C>T (p.Arg588Trp)	NEMF (R567W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801911	NM_004713.6(NEMF):c.1649A>G (p.Asn550Ser)	NEMF (N550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973824	NM_004713.6(NEMF):c.980G>A (p.Arg327Gln)	NEMF (R327Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687703	NM_004713.6(NEMF):c.438del (p.Lys146fs)	NEMF (K146fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2574740	NM_004713.6(NEMF):c.235C>T (p.Arg79Ter)	NEMF (R79*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2579759	NM_004713.6(NEMF):c.1dup (p.Met1fs)	NEMF (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 973827	NM_004713.6(NEMF):c.1A>T (p.Met1Leu)	NEMF (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3359359	NM_004713.6(NEMF):c.3130A>G (p.Lys1044Glu)	NEMF (K1023E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance