"Ambry Genetics"[submitter] AND "LOC130058203"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1368139	NM_005262.3(GFER):c.34G>A (p.Gly12Ser)	GFER, LOC130058203 (G12S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3099436	NM_005262.3(GFER):c.41A>C (p.Asn14Thr)	GFER, LOC130058203 (N14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1908119	NM_005262.3(GFER):c.42C>G (p.Asn14Lys)	GFER, LOC130058203 (N14K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2321222	NM_005262.3(GFER):c.61G>A (p.Gly21Ser)	GFER, LOC130058203 (G21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1928065	NM_005262.3(GFER):c.127G>T (p.Asp43Tyr)	GFER, LOC130058203 (D43Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1900016	NM_005262.3(GFER):c.133G>A (p.Ala45Thr)	GFER, LOC130058203 (A45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2528051	NM_005262.3(GFER):c.136G>C (p.Ala46Pro)	GFER, LOC130058203 (A46P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238932	NM_005262.3(GFER):c.146C>G (p.Ser49Trp)	GFER, LOC130058203 (S49W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214470	NM_005262.3(GFER):c.189G>C (p.Glu63Asp)	GFER, LOC130058203 (E63D)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2355139	NM_005262.3(GFER):c.209C>G (p.Pro70Arg)	GFER, LOC130058203 (P70R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322942	NM_005262.3(GFER):c.254A>G (p.Gln85Arg)	GFER, LOC130058203 (Q85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance