GFER[gene] and "single gene"[properties] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 671762	NM_005262.2(GFER):c.-279C>A	GFER	Single nucleotide variant	not provided	GBenign
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 1259779	NM_005262.3(GFER):c.259-87T>C	GFER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2001384	NM_005262.3(GFER):c.259-26C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 666364	NM_005262.3(GFER):c.259-25_259-24del	GFER	Deletion (intron variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GLikely pathogenic
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 3046957	NM_005262.3(GFER):c.259-3C>T	GFER	Single nucleotide variant (intron variant)	GFER-related disorder	GLikely benign
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 214466	NM_005262.3(GFER):c.270G>C (p.Lys90Asn)	GFER (K90N)	Single nucleotide variant (missense variant)	not specified	GLikely 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 930234	NM_005262.3(GFER):c.280G>A (p.Asp94Asn)	GFER (D94N)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GUncertain significance
Select item 2240710	NM_005262.3(GFER):c.284G>A (p.Cys95Tyr)	GFER (C95Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3066171	NM_005262.3(GFER):c.352C>A (p.Pro118Thr)	GFER (P118T)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	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 214471	NM_005262.3(GFER):c.373C>T (p.Gln125Ter)	GFER (Q125*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3099435	NM_005262.3(GFER):c.378G>T (p.Gln126His)	GFER (Q126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1305969	NM_005262.3(GFER):c.409T>C (p.Ser137Pro)	GFER (S137P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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)	not provided +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 214472	NM_005262.3(GFER):c.454A>G (p.Arg152Gly)	GFER (R152G)	Single nucleotide variant (missense 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 1274296	NM_005262.3(GFER):c.456-253G>C	GFER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676125	NM_005262.3(GFER):c.456-105T>C	GFER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676126	NM_005262.3(GFER):c.456-83C>T	GFER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 807351	NM_005262.3(GFER):c.502C>T (p.Gln168Ter)	GFER (Q168*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1974629	NM_005262.3(GFER):c.510G>C (p.Leu170=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214467	NM_005262.3(GFER):c.514C>A (p.His172Asn)	GFER (H172N)	Single nucleotide variant (missense variant)	not specified	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 2502132	NM_005262.3(GFER):c.535C>T (p.Arg179Cys)	GFER (R179C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2547241	NM_005262.3(GFER):c.541C>G (p.Leu181Val)	GFER (L181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases +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 916074	NM_005262.3(GFER):c.559G>T (p.Asp187Tyr)	GFER (D187Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 521763	NM_005262.3(GFER):c.566C>G (p.Ser189Ter)	GFER (S189*)	Single nucleotide variant (nonsense)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +1 more	GPathogenic
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 1184607	NM_005262.3(GFER):c.575A>G (p.Asp192Gly)	GFER (D192G)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GPathogenic
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 426097	NM_005262.3(GFER):c.586C>T (p.Arg196Cys)	GFER (R196C)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GUncertain significance
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
Select item 214474	NM_005262.3(GFER):c.592G>A (p.Gly198Ser)	GFER (G198S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1595955	NM_005262.3(GFER):c.600G>A (p.Lys200=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1201370	NM_005262.3(GFER):c.601G>A (p.Asp201Asn)	GFER (D201N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521769	NM_005262.3(GFER):c.610T>C (p.Cys204Arg)	GFER (C204R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301014	NM_005262.3(GFER):c.617AG[3] (p.Ter206=)	GFER	Microsatellite (no sequence alteration)	not provided	GLikely benign
Select item 381072	NM_005262.3(GFER):c.*3G>T	GFER	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1239827	NM_005262.3(GFER):c.*19T>C	GFER	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1192012	NM_005262.3(GFER):c.*88C>T	GFER	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1273148	NM_005262.3(GFER):c.*187T>A	GFER	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 91