GFER[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 671762	NM_005262.2(GFER):c.-279C>A	GFER	Single nucleotide variant	not provided	GBenign
Select item 671621	NM_005262.2(GFER):c.-250C>G	GFER, LOC130058203	Single nucleotide variant	not provided	GBenign
Select item 1179949	NC_000016.10:g.1984018_1984019insCCGCCCCGGCC	GFER, LOC130058203	Insertion	not provided	GBenign
Select item 673702	NM_005262.2(GFER):c.-150G>A	GFER, LOC130058203	Single nucleotide variant	not provided	GBenign
Select item 671622	NM_005262.2(GFER):c.-83C>T	GFER, LOC130058203	Single nucleotide variant	not provided	GBenign
Select item 673651	NM_005262.2(GFER):c.-75C>G	GFER, LOC130058203	Single nucleotide variant	not provided	GLikely benign
Select item 509455	NM_005262.2(GFER):c.-55_-44delGACCTGGAGGCT	LOC130058203, GFER	Deletion	not specified	GLikely benign
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	GUncertain significance
Select item 425085	NM_005262.3(GFER):c.25del (p.Arg9fs)	GFER, LOC130058203 (R9fs)	Deletion (frameshift variant)	not provided	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 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 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 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 1936670	NM_005262.3(GFER):c.63C>T (p.Gly21=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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)	not provided	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 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 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 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 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 1710604	NM_005262.3(GFER):c.173A>G (p.Asp58Gly)	GFER, LOC130058203 (D58G)	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 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)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +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)	GFER, LOC130058203 (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 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 559178	NM_005262.3(GFER):c.217del (p.Ala73fs)	GFER, LOC130058203 (A73fs)	Deletion (frameshift variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GPathogenic
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 3365870	NM_005262.3(GFER):c.217G>T (p.Ala73Ser)	GFER, LOC130058203 (A73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666363	NM_005262.3(GFER):c.219del (p.Cys74fs)	GFER, LOC130058203 (C74fs)	Deletion (frameshift variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GPathogenic/Likely pathogenic
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 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 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 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

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