"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GFER"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2019172	NM_005262.3(GFER):c.6G>C (p.Ala2=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892665	NM_005262.3(GFER):c.9G>A (p.Ala3=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515762	NM_005262.3(GFER):c.12C>T (p.Pro4=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 214468	NM_005262.3(GFER):c.14G>C (p.Gly5Ala)	GFER, LOC130058203 (G5A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1934379	NM_005262.3(GFER):c.18G>C (p.Glu6Asp)	GFER, LOC130058203 (E6D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1933573	NM_005262.3(GFER):c.35G>C (p.Gly12Ala)	GFER, LOC130058203 (G12A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418444	NM_005262.3(GFER):c.36C>T (p.Gly12=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030463	NM_005262.3(GFER):c.37G>C (p.Gly13Arg)	LOC130058203, GFER (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958816	NM_005262.3(GFER):c.42C>T (p.Asn14=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2030464	NM_005262.3(GFER):c.45C>G (p.Leu15=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929633	NM_005262.3(GFER):c.51C>T (p.Phe17=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912727	NM_005262.3(GFER):c.53T>G (p.Leu18Arg)	GFER, LOC130058203 (L18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150355	NM_005262.3(GFER):c.55C>T (p.Pro19Ser)	GFER, LOC130058203 (P19S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1950818	NM_005262.3(GFER):c.56C>T (p.Pro19Leu)	GFER, LOC130058203 (P19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214469	NM_005262.3(GFER):c.57G>C (p.Pro19=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1936670	NM_005262.3(GFER):c.63C>T (p.Gly21=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1953910	NM_005262.3(GFER):c.72C>T (p.Ser24=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751103	NM_005262.3(GFER):c.90G>A (p.Leu30=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052915	NM_005262.3(GFER):c.112G>A (p.Gly38Ser)	GFER, LOC130058203 (G38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048302	NM_005262.3(GFER):c.116C>T (p.Ala39Val)	GFER, LOC130058203 (A39V)	Single nucleotide variant (missense variant)	not provided	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 1930551	NM_005262.3(GFER):c.129C>A (p.Asp43Glu)	GFER, LOC130058203 (D43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 763653	NM_005262.3(GFER):c.129C>T (p.Asp43=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1967034	NM_005262.3(GFER):c.137C>T (p.Ala46Val)	GFER, LOC130058203 (A46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643906	NM_005262.3(GFER):c.138C>T (p.Ala46=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775831	NM_005262.3(GFER):c.153A>T (p.Pro51=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947911	NM_005262.3(GFER):c.168C>T (p.Thr56=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128580	NM_005262.3(GFER):c.181G>C (p.Val61Leu)	GFER, LOC130058203 (V61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884979	NM_005262.3(GFER):c.186C>G (p.Ala62=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214470	NM_005262.3(GFER):c.189G>C (p.Glu63Asp)	GFER, LOC130058203 (E63D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2022947	NM_005262.3(GFER):c.193G>A (p.Ala65Thr)	GFER, LOC130058203 (A65T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214476	NM_005262.3(GFER):c.199del (p.Arg67fs)	LOC130058203, GFER (R67fs)	Deletion (frameshift variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1519999	NM_005262.3(GFER):c.199C>T (p.Arg67Trp)	GFER, LOC130058203 (R67W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419110	NM_005262.3(GFER):c.205C>A (p.Arg69=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339637	NM_005262.3(GFER):c.216G>A (p.Arg72=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1421377	NM_005262.3(GFER):c.236C>A (p.Thr79Lys)	GFER, LOC130058203 (T79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214475	NM_005262.3(GFER):c.245G>A (p.Arg82Gln)	GFER, LOC130058203 (R82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805487	NM_005262.3(GFER):c.258+1G>A	GFER, LOC130058203	Single nucleotide variant (splice donor variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +1 more	GUncertain significance
Select item 2983620	NM_005262.3(GFER):c.258+10C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049071	NM_005262.3(GFER):c.258+17G>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029579	NM_005262.3(GFER):c.258+17G>C	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046727	NM_005262.3(GFER):c.258+20T>C	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001384	NM_005262.3(GFER):c.259-26C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919578	NM_005262.3(GFER):c.259-16C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003611	NM_005262.3(GFER):c.259-6C>A	GFER	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 137460	NM_005262.3(GFER):c.269A>G (p.Lys90Arg)	GFER (K90R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1937560	NM_005262.3(GFER):c.277G>A (p.Glu93Lys)	GFER (E93K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029713	NM_005262.3(GFER):c.279G>A (p.Glu93=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975990	NM_005262.3(GFER):c.288G>A (p.Pro96=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989159	NM_005262.3(GFER):c.312C>G (p.Arg104=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957664	NM_005262.3(GFER):c.315C>T (p.His105=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126773	NM_005262.3(GFER):c.324T>C (p.Ala108=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159200	NM_005262.3(GFER):c.335C>T (p.Thr112Ile)	GFER (T112I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958934	NM_005262.3(GFER):c.337C>G (p.Leu113Val)	GFER (L113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920441	NM_005262.3(GFER):c.352C>G (p.Pro118Ala)	GFER (P118A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011535	NM_005262.3(GFER):c.363C>A (p.Pro121=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145553	NM_005262.3(GFER):c.368C>T (p.Pro123Leu)	GFER (P123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976671	NM_005262.3(GFER):c.374A>G (p.Gln125Arg)	GFER (Q125R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097927	NM_005262.3(GFER):c.387G>A (p.Met129Ile)	GFER (M129I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063259	NM_005262.3(GFER):c.390C>T (p.Ala130=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197720	NM_005262.3(GFER):c.393G>A (p.Gln131=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741029	NM_005262.3(GFER):c.399A>T (p.Ile133=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015147	NM_005262.3(GFER):c.420C>A (p.Tyr140Ter)	GFER (Y140*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 807350	NM_005262.3(GFER):c.421C>T (p.Pro141Ser)	GFER (P141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1514608	NM_005262.3(GFER):c.429G>T (p.Glu143Asp)	GFER (E143D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477817	NM_005262.3(GFER):c.434G>A (p.Cys145Tyr)	GFER (C145Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111088	NM_005262.3(GFER):c.444C>G (p.Asp148Glu)	GFER (D148E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747834	NM_005262.3(GFER):c.445C>T (p.Leu149=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804997	NM_005262.3(GFER):c.449del (p.Arg150fs)	GFER (R150fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2979784	NM_005262.3(GFER):c.455+12T>C	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922378	NM_005262.3(GFER):c.456-17C>G	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956115	NM_005262.3(GFER):c.456-14C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847593	NM_005262.3(GFER):c.456-12C>G	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514442	NM_005262.3(GFER):c.456-9C>T	GFER	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1916023	NM_005262.3(GFER):c.456-5C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023197	NM_005262.3(GFER):c.456-4A>G	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559179	NM_005262.3(GFER):c.457C>T (p.Leu153=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733923	NM_005262.3(GFER):c.477C>T (p.Asp159=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302462	NM_005262.3(GFER):c.496T>G (p.Phe166Val)	GFER (F166V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559180	NM_005262.3(GFER):c.496T>C (p.Phe166Leu)	GFER (F166L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2168703	NM_005262.3(GFER):c.501A>G (p.Thr167=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974629	NM_005262.3(GFER):c.510G>C (p.Leu170=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784992	NM_005262.3(GFER):c.522C>T (p.His174=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734018	NM_005262.3(GFER):c.534C>T (p.Asn178=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592745	NM_005262.3(GFER):c.536G>A (p.Arg179His)	GFER (R179H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 758097	NM_005262.3(GFER):c.541C>T (p.Leu181=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214473	NM_005262.3(GFER):c.550C>A (p.Pro184Thr)	GFER (P184T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2977101	NM_005262.3(GFER):c.555C>T (p.Asp185=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186348	NM_005262.3(GFER):c.558C>T (p.Phe186=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948712	NM_005262.3(GFER):c.571G>A (p.Val191Met)	GFER (V191M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031093	NM_005262.3(GFER):c.576T>C (p.Asp192=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947767	NM_005262.3(GFER):c.579G>A (p.Glu193=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699133	NM_005262.3(GFER):c.580C>T (p.Arg194Cys)	GFER (R194C)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 8691	NM_005262.3(GFER):c.581G>A (p.Arg194His)	GFER (R194H)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +2 more	GPathogenic
Select item 559181	NM_005262.3(GFER):c.588C>T (p.Arg196=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1921220	NM_005262.3(GFER):c.591C>T (p.Asp197=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1544722	NM_005262.3(GFER):c.591C>G (p.Asp197Glu)	GFER (D197E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2