ClinVar for Gene (Select 2671) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365870	NM_005262.3(GFER):c.217G>T (p.Ala73Ser)	GFER, LOC130058203 (A73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 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 3099435	NM_005262.3(GFER):c.378G>T (p.Gln126His)	GFER (Q126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3046957	NM_005262.3(GFER):c.259-3C>T	GFER	Single nucleotide variant (intron variant)	GFER-related disorder	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 2983620	NM_005262.3(GFER):c.258+10C>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979784	NM_005262.3(GFER):c.455+12T>C	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977101	NM_005262.3(GFER):c.555C>T (p.Asp185=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2957664	NM_005262.3(GFER):c.315C>T (p.His105=)	GFER	Single nucleotide variant (synonymous 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 2892665	NM_005262.3(GFER):c.9G>A (p.Ala3=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2847593	NM_005262.3(GFER):c.456-12C>G	GFER	Single nucleotide variant (intron 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 2784992	NM_005262.3(GFER):c.522C>T (p.His174=)	GFER	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 2747834	NM_005262.3(GFER):c.445C>T (p.Leu149=)	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 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
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 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 2502132	NM_005262.3(GFER):c.535C>T (p.Arg179Cys)	GFER (R179C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2429532	NM_005262.3(GFER):c.68G>C (p.Arg23Pro)	GFER, LOC130058203 (R23P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2423309	NC_000016.9:g.(?_2034220)_(2152787_?)del	MIR1225, NHERF2 +7 more	Deletion	Tuberous sclerosis 2	GPathogenic
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 2418444	NM_005262.3(GFER):c.36C>T (p.Gly12=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 2240710	NM_005262.3(GFER):c.284G>A (p.Cys95Tyr)	GFER (C95Y)	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 2197720	NM_005262.3(GFER):c.393G>A (p.Gln131=)	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 2168703	NM_005262.3(GFER):c.501A>G (p.Thr167=)	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 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 2145553	NM_005262.3(GFER):c.368C>T (p.Pro123Leu)	GFER (P123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2126773	NM_005262.3(GFER):c.324T>C (p.Ala108=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2052915	NM_005262.3(GFER):c.112G>A (p.Gly38Ser)	GFER, LOC130058203 (G38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049071	NM_005262.3(GFER):c.258+17G>T	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2046727	NM_005262.3(GFER):c.258+20T>C	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031093	NM_005262.3(GFER):c.576T>C (p.Asp192=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2030463	NM_005262.3(GFER):c.37G>C (p.Gly13Arg)	LOC130058203, GFER (G13R)	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 2029579	NM_005262.3(GFER):c.258+17G>C	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2019172	NM_005262.3(GFER):c.6G>C (p.Ala2=)	GFER, LOC130058203	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 2011535	NM_005262.3(GFER):c.363C>A (p.Pro121=)	GFER	Single nucleotide variant (synonymous 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 2001384	NM_005262.3(GFER):c.259-26C>T	GFER	Single nucleotide variant (intron 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 1976671	NM_005262.3(GFER):c.374A>G (p.Gln125Arg)	GFER (Q125R)	Single nucleotide variant (missense variant)	not provided	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 1974629	NM_005262.3(GFER):c.510G>C (p.Leu170=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1958934	NM_005262.3(GFER):c.337C>G (p.Leu113Val)	GFER (L113V)	Single nucleotide variant (missense 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 1950818	NM_005262.3(GFER):c.56C>T (p.Pro19Leu)	GFER, LOC130058203 (P19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1947911	NM_005262.3(GFER):c.168C>T (p.Thr56=)	GFER, LOC130058203	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 1937560	NM_005262.3(GFER):c.277G>A (p.Glu93Lys)	GFER (E93K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1934379	NM_005262.3(GFER):c.18G>C (p.Glu6Asp)	GFER, LOC130058203 (E6D)	Single nucleotide variant (missense variant)	not provided	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 1930551	NM_005262.3(GFER):c.129C>A (p.Asp43Glu)	GFER, LOC130058203 (D43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1922378	NM_005262.3(GFER):c.456-17C>G	GFER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921220	NM_005262.3(GFER):c.591C>T (p.Asp197=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1919578	NM_005262.3(GFER):c.259-16C>T	GFER	Single nucleotide variant (intron variant)	not provided	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 1912727	NM_005262.3(GFER):c.53T>G (p.Leu18Arg)	GFER, LOC130058203 (L18R)	Single nucleotide variant (missense variant)	not provided	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 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 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808105	GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1	GFER, MIR1225 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
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 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1710604	NM_005262.3(GFER):c.173A>G (p.Asp58Gly)	GFER, LOC130058203 (D58G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
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 1595955	NM_005262.3(GFER):c.600G>A (p.Lys200=)	GFER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3