"GeneDx"[submitter] AND "GFM1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57797	GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3	GFM1, IQCJ +19 more	Copy number gain	See cases	GUncertain significance
Select item 669743	NM_024996.5(GFM1):c.-386G>T	GFM1	Single nucleotide variant	not provided	GBenign
Select item 137468	NM_024996.7(GFM1):c.-38C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
Select item 343918	NM_024996.7(GFM1):c.-33C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 137469	NM_024996.7(GFM1):c.-31A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 377920	NM_024996.7(GFM1):c.-25C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 137470	NM_024996.7(GFM1):c.-11C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 214491	NM_024996.7(GFM1):c.3G>A (p.Met1Ile)	GFM1 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 214494	NM_024996.7(GFM1):c.16G>C (p.Ala6Pro)	GFM1 (A6P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 343919	NM_024996.7(GFM1):c.18T>C (p.Ala6=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GBenign
Select item 2576701	NM_024996.7(GFM1):c.28G>T (p.Ala10Ser)	GFM1 (A10S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2446165	NM_024996.7(GFM1):c.72G>C (p.Gln24His)	GFM1 (Q24H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214482	NM_024996.7(GFM1):c.77A>G (p.Lys26Arg)	GFM1 (K26R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 1185260	NM_024996.7(GFM1):c.81+22A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1185261	NM_024996.7(GFM1):c.81+84C>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1190661	NM_024996.7(GFM1):c.81+283dup	GFM1	Duplication (intron variant)	not provided	GLikely benign
Select item 1296527	NM_024996.7(GFM1):c.81+282_81+283del	GFM1	Deletion (intron variant)	not provided	GBenign
Select item 1286424	NM_024996.7(GFM1):c.81+281_81+283del	GFM1	Deletion (intron variant)	not provided	GBenign
Select item 1264675	NM_024996.7(GFM1):c.81+283del	GFM1	Deletion (intron variant)	not provided	GBenign
Select item 1209346	NM_024996.7(GFM1):c.82-198G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193054	NM_024996.7(GFM1):c.82-118A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421099	NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)	GFM1	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137462	NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	GFM1 (N43D)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 2499286	NM_024996.7(GFM1):c.130G>A (p.Glu44Lys)	GFM1 (E44K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2499287	NM_024996.7(GFM1):c.137T>A (p.Ile46Lys)	GFM1 (I46K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1695752	NM_024996.7(GFM1):c.153C>G (p.Ile51Met)	GFM1 (I51M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 421888	NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)	GFM1 (S57*)	Duplication (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 559213	NM_024996.7(GFM1):c.193C>A (p.Arg65=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 746761	NM_024996.7(GFM1):c.220G>T (p.Ala74Ser)	GFM1 (A74S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1708809	NM_024996.7(GFM1):c.228G>T (p.Met76Ile)	GFM1 (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 389611	NM_024996.7(GFM1):c.234+17G>A	GFM1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1247283	NM_024996.7(GFM1):c.234+187A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205526	NM_024996.7(GFM1):c.235-85G>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214478	NM_024996.7(GFM1):c.235-14G>A	GFM1	Single nucleotide variant (intron variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +2 more	GConflicting classifications of pathogenicity
Select item 214489	NM_024996.7(GFM1):c.238A>G (p.Lys80Glu)	GFM1 (K80E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1304244	NM_024996.7(GFM1):c.265A>G (p.Met89Val)	GFM1 (M14V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214496	NM_024996.7(GFM1):c.273del (p.Met92fs)	GFM1 (M92fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 684007	NM_024996.7(GFM1):c.367+223C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288827	NM_024996.7(GFM1):c.368-199G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198338	NM_024996.7(GFM1):c.368-177G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192078	NM_024996.7(GFM1):c.368-34T>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214481	NM_024996.7(GFM1):c.368-18A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 343923	NM_024996.7(GFM1):c.373G>A (p.Val125Met)	GFM1 (V125M +1 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
Select item 546574	NM_024996.7(GFM1):c.455A>C (p.Gln152Pro)	GFM1 (Q152P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 137464	NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)	GFM1 (N159S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 1493839	NM_024996.7(GFM1):c.491G>A (p.Arg164His)	GFM1 (R164H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 4160	NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	GFM1 (N174S +1 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GLikely pathogenic
Select item 137465	NM_024996.7(GFM1):c.568A>C (p.Met190Leu)	GFM1 (M190L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 381393	NM_024996.7(GFM1):c.597G>A (p.Ala199=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 214492	NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	GFM1 (E208K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343925	NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	GFM1 (V215I +2 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GBenign
Select item 742145	NM_024996.7(GFM1):c.667A>G (p.Ile223Val)	GFM1 (I148V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 214493	NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)	GFM1 (G230S +3 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1227045	NM_024996.7(GFM1):c.689+200A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669490	NM_024996.7(GFM1):c.689+611A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185262	NM_024996.7(GFM1):c.689+891C>T	GFM1 (R245C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 509754	NM_024996.7(GFM1):c.689+908G>A	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1210885	NM_024996.7(GFM1):c.689+1184A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283426	NM_024996.7(GFM1):c.689+1211A>C	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294114	NM_024996.7(GFM1):c.690-262del	GFM1	Deletion (intron variant)	not provided	GBenign
Select item 1264038	NM_024996.7(GFM1):c.690-96T>A	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185263	NM_024996.7(GFM1):c.690-87A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1214779	NM_024996.7(GFM1):c.690-40G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214483	NM_024996.7(GFM1):c.690-5C>G	GFM1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214495	NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)	GFM1 (R234* +6 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 653852	NM_024996.7(GFM1):c.720del (p.Glu241fs)	GFM1 (E260fs +6 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic
Select item 30598	NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	GFM1 (R250W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 427199	NM_024996.7(GFM1):c.776A>G (p.Asn259Ser)	GFM1 (N259S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 714234	NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)	GFM1 (Q282R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 60124	GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1	GFM1, LOC100287290 +13 more	Copy number loss	See cases	GUncertain significance
Select item 674097	NM_024996.7(GFM1):c.840+108C>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210779	NM_024996.7(GFM1):c.840+317T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250603	NM_024996.7(GFM1):c.841-224C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1431877	NM_024996.7(GFM1):c.898G>A (p.Ala300Thr)	GFM1 (A147T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214485	NM_024996.7(GFM1):c.960A>C (p.Pro320=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 669751	NM_024996.7(GFM1):c.998+150G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273156	NM_024996.7(GFM1):c.998+302dup	GFM1	Duplication (intron variant)	not provided	GBenign
Select item 1274884	NM_024996.7(GFM1):c.999-221A>T	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 343929	NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1204242	NM_024996.7(GFM1):c.1065C>T (p.Gly355=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 343930	NM_024996.7(GFM1):c.1083+3A>G	GFM1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 137461	NM_024996.7(GFM1):c.1083+6T>G	GFM1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1185264	NM_024996.7(GFM1):c.1083+57C>T	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185265	NM_024996.7(GFM1):c.1083+82T>C	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213413	NM_024996.7(GFM1):c.1084-299A>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214486	NM_024996.7(GFM1):c.1114C>T (p.Arg372Cys)	GFM1 (R372C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214487	NM_024996.7(GFM1):c.1181G>A (p.Arg394Gln)	GFM1 (R394Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 214477	NM_024996.7(GFM1):c.1209C>T (p.Ala403=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 2446162	NM_024996.7(GFM1):c.1213A>G (p.Met405Val)	GFM1 (M177V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1193073	NM_024996.7(GFM1):c.1221+203G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217193	NM_024996.7(GFM1):c.1221+222T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219114	NM_024996.7(GFM1):c.1221+323T>C	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194099	NM_024996.7(GFM1):c.1222-321A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195558	NM_024996.7(GFM1):c.1256C>T (p.Ala419Val)	GFM1 (A191V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1185266	NM_024996.7(GFM1):c.1323+72A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 671554	NM_024996.7(GFM1):c.1323+83A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278818	NM_024996.7(GFM1):c.1324-267G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GBenign

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