"Baylor Genetics"[submitter] AND "GFM1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 644188	NM_024996.7(GFM1):c.193C>T (p.Arg65Ter)	GFM1 (R65*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 936188	NM_024996.7(GFM1):c.247_248del (p.Asp83fs)	GFM1 (D83fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 3241699	NM_024996.7(GFM1):c.287_288del (p.Arg96fs)	GFM1 (R21fs +1 more)	Microsatellite (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 652079	NM_024996.7(GFM1):c.291_292del (p.Gly99fs)	GFM1 (G99fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2077405	NM_024996.7(GFM1):c.303dup (p.Ile102fs)	GFM1 (I102fs +1 more)	Duplication (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 3241701	NM_024996.7(GFM1):c.323dup (p.Tyr108Ter)	GFM1 (Y108* +1 more)	Duplication (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675917	NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)	GFM1 (Y108* +1 more)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 936114	NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter)	GFM1 (Y108* +1 more)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2675916	NM_024996.7(GFM1):c.361dup (p.Thr121fs)	GFM1 (T121fs +1 more)	Duplication (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675901	NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)	GFM1 (T121fs +1 more)	Indel (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675887	NM_024996.7(GFM1):c.367+1G>A	GFM1	Single nucleotide variant (splice donor variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675900	NM_024996.7(GFM1):c.368-2A>C	GFM1	Single nucleotide variant (splice acceptor variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2150047	NM_024996.7(GFM1):c.368-2A>G	GFM1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2675905	NM_024996.7(GFM1):c.381del (p.Phe127fs)	GFM1 (F127fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 646742	NM_024996.7(GFM1):c.401_404dup (p.Arg136fs)	GFM1 (R136fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028358	NM_024996.7(GFM1):c.408A>T (p.Arg136Ser)	GFM1 (R61S +1 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 343924	NM_024996.7(GFM1):c.424del (p.Val142fs)	GFM1 (V142fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2675913	NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)	GFM1 (L101* +1 more)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1455378	NM_024996.7(GFM1):c.532C>T (p.Arg178Ter)	GFM1 (R178* +1 more)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 644902	NM_024996.7(GFM1):c.539del (p.Gly180fs)	GFM1 (G180fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic
Select item 3241698	NM_024996.7(GFM1):c.548del (p.Pro183fs)	GFM1 (P108fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675896	NM_024996.7(GFM1):c.573-2A>G	GFM1	Single nucleotide variant (splice acceptor variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1068183	NM_024996.7(GFM1):c.573-1G>C	GFM1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2442220	NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)	GFM1 (S117Y +2 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 2675894	NM_024996.7(GFM1):c.579dup (p.Leu194fs)	GFM1 (L119fs +2 more)	Duplication (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675891	NM_024996.7(GFM1):c.626del (p.Gly209fs)	GFM1 (G134fs +2 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675918	NM_024996.7(GFM1):c.636del (p.Gly213fs)	GFM1 (G138fs +2 more)	Deletion (intron variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 860673	NM_024996.7(GFM1):c.661C>T (p.Arg221Ter)	GFM1 (R146* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
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 1346304	NM_024996.7(GFM1):c.689+1G>A	GFM1	Single nucleotide variant (splice donor variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GLikely pathogenic
Select item 2675914	NM_024996.7(GFM1):c.689+2T>C	GFM1	Single nucleotide variant (splice donor variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
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 1367819	NM_024996.7(GFM1):c.690_693del	GFM1	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 2675893	NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)	GFM1 (Y160* +6 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely 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 2675911	NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)	GFM1 (L14* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 2441883	NM_024996.7(GFM1):c.754G>A (p.Glu252Lys)	GFM1 (E177K +6 more)	Single nucleotide variant (missense variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GUncertain significance
Select item 2675890	NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)	GFM1 (Q110* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1944995	NM_024996.7(GFM1):c.817dup (p.Ile273fs)	GFM1 (I292fs +6 more)	Duplication (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic
Select item 374695	NM_024996.7(GFM1):c.829dup (p.Ser277fs)	GFM1 (S296fs +6 more)	Duplication (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1453256	NM_024996.7(GFM1):c.850C>T (p.Arg284Ter)	GFM1 (R131* +6 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2675902	NM_024996.7(GFM1):c.909del (p.Asn303fs)	GFM1 (N114fs +6 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675889	NM_024996.7(GFM1):c.914del (p.Gly305fs)	GFM1 (G116fs +6 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GPathogenic
Select item 2675903	NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)	GFM1 (L121* +6 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675920	NM_024996.7(GFM1):c.974del (p.Asn325fs)	GFM1 (N136fs +6 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 939719	NM_024996.7(GFM1):c.997_998+2del	GFM1	Deletion (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2675908	NM_024996.7(GFM1):c.999-1G>C	GFM1	Single nucleotide variant (splice acceptor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1066726	NM_024996.7(GFM1):c.999-1G>A	GFM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2675888	NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)	GFM1 (N121fs +6 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 3241703	NM_024996.7(GFM1):c.1083+1G>C	GFM1	Single nucleotide variant (splice donor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1075664	NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter)	GFM1 (R136* +6 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675906	NM_024996.7(GFM1):c.1157dup (p.Asn386fs)	GFM1 (N158fs +6 more)	Duplication (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1425853	NM_024996.7(GFM1):c.1172del (p.Lys391fs)	GFM1 (K163fs +6 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1460386	NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter)	GFM1 (Q357* +6 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2675895	NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)	GFM1 (L170P +6 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 1028356	NM_024996.7(GFM1):c.1221+20G>A	GFM1	Single nucleotide variant (intron variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
Select item 848623	NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs)	GFM1 (S199fs +7 more)	Duplication (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2675912	NM_024996.7(GFM1):c.1303dup (p.Ala435fs)	GFM1 (A207fs +7 more)	Duplication (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1028357	NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter)	GFM1 (E415* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GPathogenic
Select item 2148396	NM_024996.7(GFM1):c.1380+2T>G	GFM1	Single nucleotide variant (splice donor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GLikely pathogenic
Select item 2675904	NM_024996.7(GFM1):c.1381-1G>C	GFM1	Single nucleotide variant (splice acceptor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 812087	NM_024996.7(GFM1):c.1404del (p.Gly469fs)	GFM1 (G241fs +7 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2187939	NM_024996.7(GFM1):c.1424del (p.Arg475fs)	GFM1 (R247fs +7 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675886	NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)	GFM1 (Q278* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1455901	NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)	GFM1 (E322fs +7 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3241700	NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)	GFM1 (C288* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1069701	NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)	GFM1 (R298* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 214497	NM_024996.7(GFM1):c.1596del (p.Val533fs)	GFM1 (V533fs +7 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 940515	NM_024996.7(GFM1):c.1601+1G>A	GFM1	Single nucleotide variant (splice donor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GLikely pathogenic
Select item 2162487	NM_024996.7(GFM1):c.1632dup (p.Gly545fs)	GFM1 (G564fs +7 more)	Duplication (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1460255	NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter)	GFM1 (Q359* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1469533	NM_024996.7(GFM1):c.1765-2A>G	GFM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 951478	NM_024996.7(GFM1):c.1765-2_1765-1del	GFM1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2675915	NM_024996.7(GFM1):c.1799del (p.Ser600fs)	GFM1 (S372fs +7 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1453055	NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter)	GFM1 (R439* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2675885	NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)	GFM1 (Q408fs +7 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675892	NM_024996.7(GFM1):c.1909+2T>A	GFM1	Single nucleotide variant (splice donor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 1066690	NM_024996.7(GFM1):c.1910-2A>T	GFM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 632409	NM_024996.7(GFM1):c.1910-1G>A	GFM1	Single nucleotide variant (splice acceptor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GConflicting classifications of pathogenicity
Select item 2675910	NM_024996.7(GFM1):c.1951del (p.Ala651fs)	GFM1 (A423fs +7 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 2675919	NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)	GFM1 (Q433* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 861346	NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter)	GFM1 (R442* +7 more)	Single nucleotide variant (nonsense +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 214500	NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	GFM1 (R671C +7 more)	Single nucleotide variant (missense variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2743240	NM_024996.7(GFM1):c.2070+1G>A	GFM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3241702	NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)	GFM1 (Y471* +7 more)	Single nucleotide variant (nonsense +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic

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