"GeneDx"[submitter] AND "AFG2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1182886	NM_145207.3(AFG2A):c.-2C>T	AFG2A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3372979	NM_145207.3(AFG2A):c.-1C>T	AFG2A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 203533	NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)	AFG2A (M1L)	Single nucleotide variant (missense variant +1 more)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1302070	NM_145207.3(AFG2A):c.45A>C (p.Glu15Asp)	AFG2A (E15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475736	NM_145207.3(AFG2A):c.80G>C (p.Cys27Ser)	AFG2A (C27S)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GBenign
Select item 1306829	NM_145207.3(AFG2A):c.84G>A (p.Ala28=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1800579	NM_145207.3(AFG2A):c.128C>A (p.Ser43Tyr)	AFG2A (S43Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310545	NM_145207.3(AFG2A):c.149A>G (p.Asn50Ser)	AFG2A (N50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260816	NM_145207.3(AFG2A):c.163+148G>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227082	NM_145207.3(AFG2A):c.163+246G>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205635	NM_145207.3(AFG2A):c.164-303CT[2]	AFG2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1200775	NM_145207.3(AFG2A):c.164-288A>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187601	NM_145207.3(AFG2A):c.164-222C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 844710	NM_145207.3(AFG2A):c.250C>T (p.Arg84Ter)	AFG2A (R83* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic
Select item 203534	NM_145207.3(AFG2A):c.251G>A (p.Arg84Gln)	AFG2A (R84Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GPathogenic
Select item 203531	NM_145207.3(AFG2A):c.269G>T (p.Ser90Ile)	AFG2A (S90I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1204772	NM_145207.3(AFG2A):c.288+192C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257806	NM_145207.3(AFG2A):c.288+264A>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219652	NM_145207.3(AFG2A):c.289-109G>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205572	NM_145207.3(AFG2A):c.289-42G>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372957	NM_145207.3(AFG2A):c.304C>T (p.Pro102Ser)	AFG2A (P102S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1023985	NM_145207.3(AFG2A):c.314G>C (p.Gly105Ala)	AFG2A (G104A +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GUncertain significance
Select item 2501993	NM_145207.3(AFG2A):c.334G>A (p.Gly112Ser)	AFG2A (G111S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475729	NM_145207.3(AFG2A):c.367G>T (p.Val123Leu)	AFG2A (V123L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 620157	NM_145207.3(AFG2A):c.388C>T (p.Gln130Ter)	AFG2A (Q130* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 488607	NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter)	AFG2A (Q132* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic
Select item 475731	NM_145207.3(AFG2A):c.436G>A (p.Val146Met)	AFG2A (V146M +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GUncertain significance
Select item 546179	NM_145207.3(AFG2A):c.446+1G>A	AFG2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1278828	NM_145207.3(AFG2A):c.446+224C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242081	NM_145207.3(AFG2A):c.447-99T>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281166	NM_145207.3(AFG2A):c.447-81C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245862	NM_145207.3(AFG2A):c.505+218G>A	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281147	NM_145207.3(AFG2A):c.506-36del	AFG2A	Deletion (intron variant)	not provided	GBenign
Select item 1140366	NM_145207.3(AFG2A):c.506-5T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GLikely benign
Select item 951346	NM_145207.3(AFG2A):c.535C>G (p.Leu179Val)	AFG2A (L178V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1803532	NM_145207.3(AFG2A):c.545C>T (p.Thr182Ile)	AFG2A (T181I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 938867	NM_145207.3(AFG2A):c.554G>A (p.Gly185Glu)	AFG2A (G184E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 663358	NM_145207.3(AFG2A):c.560C>T (p.Pro187Leu)	AFG2A (P186L +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 475732	NM_145207.3(AFG2A):c.585G>A (p.Val195=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 639051	NM_145207.3(AFG2A):c.700C>A (p.Gln234Lys)	AFG2A (Q233K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306790	NM_145207.3(AFG2A):c.749G>T (p.Ser250Ile)	AFG2A (S249I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475733	NM_145207.3(AFG2A):c.766A>G (p.Ile256Val)	AFG2A (I256V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 475734	NM_145207.3(AFG2A):c.767T>C (p.Ile256Thr)	AFG2A (I256T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GBenign
Select item 475735	NM_145207.3(AFG2A):c.807G>T (p.Leu269=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GBenign
Select item 542383	NM_145207.3(AFG2A):c.830A>T (p.Asp277Val)	AFG2A (D277V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 660212	NM_145207.3(AFG2A):c.889A>G (p.Arg297Gly)	AFG2A (R296G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475737	NM_145207.3(AFG2A):c.896G>T (p.Gly299Val)	AFG2A (G299V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 207828	NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	AFG2A (T330del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2581910	NM_145207.3(AFG2A):c.1003A>G (p.Thr335Ala)	AFG2A (T334A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542391	NM_145207.3(AFG2A):c.1046A>G (p.Lys349Arg)	AFG2A (K349R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 265608	NM_145207.3(AFG2A):c.1069G>T (p.Gly357Ter)	AFG2A (G357* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 373135	NM_145207.3(AFG2A):c.1073del (p.Gly357_Leu358insTer)	AFG2A	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 942571	NM_145207.3(AFG2A):c.1075A>G (p.Ser359Gly)	AFG2A (S358G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475715	NM_145207.3(AFG2A):c.1131G>A (p.Glu377=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GBenign/Likely benign
Select item 1179908	NM_145207.3(AFG2A):c.1147+140T>A	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211179	NM_145207.3(AFG2A):c.1148-228dup	AFG2A	Duplication (intron variant)	not provided	GLikely benign
Select item 567397	NM_145207.3(AFG2A):c.1151T>C (p.Ile384Thr)	AFG2A (I384T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 965296	NM_145207.3(AFG2A):c.1156G>A (p.Ala386Thr)	AFG2A (A385T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 203535	NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser)	AFG2A (P387S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3373300	NM_145207.3(AFG2A):c.1277+3A>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1254507	NM_145207.3(AFG2A):c.1277+6T>C	AFG2A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1221955	NM_145207.3(AFG2A):c.1277+94T>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210726	NM_145207.3(AFG2A):c.1278-27T>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 475718	NM_145207.3(AFG2A):c.1334+6_1334+9del	AFG2A	Deletion (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GLikely benign
Select item 1245160	NM_145207.3(AFG2A):c.1334+186A>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245283	NM_145207.3(AFG2A):c.1335-175T>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200531	NM_145207.3(AFG2A):c.1335-8_1335-5del	AFG2A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 542393	NM_145207.3(AFG2A):c.1365G>A (p.Leu455=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 424090	NM_145207.3(AFG2A):c.1442T>C (p.Met481Thr)	AFG2A (M481T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1267366	NM_145207.3(AFG2A):c.1458+217G>A	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448459	NM_145207.3(AFG2A):c.1459-155A>G	AFG2A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 586674	NM_145207.3(AFG2A):c.1459-109G>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448460	NM_145207.3(AFG2A):c.1527C>T (p.Leu509=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 75286	NM_145207.3(AFG2A):c.1528C>T (p.Arg510Ter)	AFG2A (R510* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1014276	NM_145207.3(AFG2A):c.1562T>C (p.Ile521Thr)	AFG2A (I520T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1037664	NM_145207.3(AFG2A):c.1574A>G (p.Asn525Ser)	AFG2A (N524S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GUncertain significance
Select item 475720	NM_145207.3(AFG2A):c.1587G>T (p.Arg529=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GLikely benign
Select item 817552	NM_145207.3(AFG2A):c.1603A>T (p.Lys535Ter)	AFG2A (K535* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 475721	NM_145207.3(AFG2A):c.1616G>T (p.Arg539Met)	AFG2A (R539M +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GBenign/Likely benign
Select item 475722	NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg)	AFG2A (P541R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1315482	NM_145207.3(AFG2A):c.1653G>C (p.Gln551His)	AFG2A (Q550H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542390	NM_145207.3(AFG2A):c.1677C>T (p.Tyr559=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1200908	NM_145207.3(AFG2A):c.1714+203A>G	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216265	NM_145207.3(AFG2A):c.1714+262G>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772692	NM_145207.3(AFG2A):c.1737C>T (p.Ile579=)	AFG2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 475723	NM_145207.3(AFG2A):c.1785G>T (p.Val595=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GBenign/Likely benign
Select item 839502	NM_145207.3(AFG2A):c.1868A>T (p.Asn623Ile)	AFG2A (N623I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1211075	NM_145207.3(AFG2A):c.1869+158C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283467	NM_145207.3(AFG2A):c.1870-268C>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272615	NM_145207.3(AFG2A):c.1870-229_1870-226del	AFG2A	Deletion (intron variant)	not provided	GBenign
Select item 1248672	NM_145207.3(AFG2A):c.1870-205dup	AFG2A	Duplication (intron variant)	not provided	GBenign
Select item 1215898	NM_145207.3(AFG2A):c.1870-93G>A	AFG2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267209	NM_145207.3(AFG2A):c.1870-74T>C	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238823	NM_145207.3(AFG2A):c.1870-36G>T	AFG2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426803	NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser)	AFG2A (W626S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GConflicting classifications of pathogenicity
Select item 203524	NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)	AFG2A (D628G +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 568026	NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)	AFG2A (K638E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 475724	NM_145207.3(AFG2A):c.1918G>C (p.Glu640Gln)	AFG2A (E640Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GBenign
Select item 836262	NM_145207.3(AFG2A):c.1963C>T (p.Arg655Ter)	AFG2A (R655* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic

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