13780[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 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 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 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 901323	NM_024996.7(GFM1):c.-85C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 343917	NM_024996.7(GFM1):c.-73C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GLikely benign
Select item 901324	NM_024996.7(GFM1):c.-66C>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
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 1621331	NM_024996.7(GFM1):c.12G>C (p.Leu4=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2830096	NM_024996.7(GFM1):c.18T>G (p.Ala6=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1090635	NM_024996.7(GFM1):c.21A>G (p.Ala7=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2772918	NM_024996.7(GFM1):c.27C>T (p.Val9=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2976196	NM_024996.7(GFM1):c.30G>A (p.Ala10=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1637278	NM_024996.7(GFM1):c.36G>C (p.Leu12=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1130735	NM_024996.7(GFM1):c.39G>A (p.Gly13=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 667375	NM_024996.7(GFM1):c.54del (p.Ala19fs)	GFM1 (A19fs)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 755085	NM_024996.7(GFM1):c.51C>T (p.Ala17=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2682849	NM_024996.7(GFM1):c.53C>T (p.Pro18Leu)	GFM1 (P18L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1153489	NM_024996.7(GFM1):c.54C>A (p.Pro18=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1106036	NM_024996.7(GFM1):c.54C>T (p.Pro18=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 343920	NM_024996.7(GFM1):c.56C>T (p.Ala19Val)	GFM1 (A19V)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1460950	NM_024996.7(GFM1):c.62T>C (p.Leu21Pro)	GFM1 (L21P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1161450	NM_024996.7(GFM1):c.66C>G (p.Gly22=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1409305	NM_024996.7(GFM1):c.67T>A (p.Trp23Arg)	GFM1 (W23R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1454007	NM_024996.7(GFM1):c.69G>A (p.Trp23Ter)	GFM1 (W23*)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
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 3281239	NM_024996.7(GFM1):c.73A>G (p.Arg25Gly)	GFM1 (R25G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
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 1067176	NM_024996.7(GFM1):c.81+1G>A	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GLikely pathogenic
Select item 2418078	NM_024996.7(GFM1):c.81+3A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 343921	NM_024996.7(GFM1):c.81+5C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 796101	NM_024996.7(GFM1):c.81+7G>C	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1081266	NM_024996.7(GFM1):c.81+10C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2887788	NM_024996.7(GFM1):c.81+11A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2989625	NM_024996.7(GFM1):c.81+12T>C	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3005859	NM_024996.7(GFM1):c.81+13A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3013571	NM_024996.7(GFM1):c.81+17A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2890922	NM_024996.7(GFM1):c.81+18G>A	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2694772	NM_024996.7(GFM1):c.81+19G>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2720272	NM_024996.7(GFM1):c.82-16C>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705211	NM_024996.7(GFM1):c.82-16C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885767	NM_024996.7(GFM1):c.82-15T>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965308	NM_024996.7(GFM1):c.82-14C>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882329	NM_024996.7(GFM1):c.82-14C>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916503	NM_024996.7(GFM1):c.82-13G>T	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733810	NM_024996.7(GFM1):c.82-13G>A	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772334	NM_024996.7(GFM1):c.82-11A>G	GFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1937023	NM_024996.7(GFM1):c.82-4dup	GFM1	Duplication (intron variant)	not provided	GBenign
Select item 1895509	NM_024996.7(GFM1):c.82-4del	GFM1	Deletion (intron variant)	not provided	GBenign
Select item 1066761	NM_024996.7(GFM1):c.82-2A>C	GFM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1542626	NM_024996.7(GFM1):c.87T>C (p.Asn29=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2654256	NM_024996.7(GFM1):c.88T>G (p.Trp30Gly)	GFM1 (W30G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1456973	NM_024996.7(GFM1):c.89_99del (p.Trp30fs)	GFM1 (W30fs)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2145529	NM_024996.7(GFM1):c.90G>T (p.Trp30Cys)	GFM1 (W30C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1439467	NM_024996.7(GFM1):c.97T>C (p.Cys33Arg)	GFM1 (C33R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 812093	NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)	GFM1 (R34*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3054321	NM_024996.7(GFM1):c.102A>G (p.Arg34=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	GFM1-related disorder	GLikely benign
Select item 1090813	NM_024996.7(GFM1):c.102A>C (p.Arg34=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2675907	NM_024996.7(GFM1):c.113_116dup (p.Val40fs)	GFM1 (V40fs)	Duplication (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675909	NM_024996.7(GFM1):c.114_115del (p.Val40fs)	GFM1 (V40fs)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
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 specified +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 1362573	NM_024996.7(GFM1):c.136dup (p.Ile46fs)	GFM1 (I46fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2675897	NM_024996.7(GFM1):c.136del (p.Ile46fs)	GFM1 (I46fs)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
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 4161	NM_024996.7(GFM1):c.139C>T (p.Arg47Ter)	GFM1 (R47*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1096517	NM_024996.7(GFM1):c.141A>C (p.Arg47=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2675899	NM_024996.7(GFM1):c.154_155del (p.Ala53fs)	GFM1 (A53fs)	Microsatellite (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2585025	NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)	GFM1 (I51S)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 1941785	NM_024996.7(GFM1):c.153C>T (p.Ile51=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1096195	NM_024996.7(GFM1):c.168T>C (p.Asp56=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2802803	NM_024996.7(GFM1):c.171T>A (p.Ser57=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1569337	NM_024996.7(GFM1):c.171T>C (p.Ser57=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2993203	NM_024996.7(GFM1):c.183A>G (p.Thr61=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2165935	NM_024996.7(GFM1):c.185T>G (p.Leu62Ter)	GFM1 (L62*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic

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