NFIA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 59358	GRCh38/hg38 1p32.1-31.3(chr1:59871038-62029355)x1	C1orf87, CYP2J2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 1249368	NC_000001.11:g.61077104_61077111dup	NFIA	Duplication	not provided	GBenign
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	ANGPTL3, ATG4C +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 1227712	NC_000001.11:g.61077220A>G	NFIA	Single nucleotide variant	not provided	GBenign
Select item 1231072	NM_001145511.2(NFIA):c.3+238dup	NFIA	Duplication (intron variant)	not provided	GBenign
Select item 1214327	NM_001145511.2(NFIA):c.3+238del	NFIA	Deletion (intron variant)	not provided	GLikely benign
Select item 1223209	NM_001145511.2(NFIA):c.3+3940A>G	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3360054	NM_001145511.2(NFIA):c.3+4318G>A	LOC122056894, NFIA (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2242153	NM_001145512.2(NFIA):c.11G>A (p.Cys4Tyr)	LOC122056894, NFIA (C4Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030877	NM_001145512.2(NFIA):c.40G>A (p.Val14Met)	LOC122056894, NFIA (V14M)	Single nucleotide variant (missense variant +1 more)	NFIA-related disorder	GLikely benign
Select item 2505589	NM_001145511.2(NFIA):c.3+4362C>T	LOC122056894, NFIA (T16M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662449	NM_001145511.2(NFIA):c.3+4381C>A	LOC122056894, NFIA (C22*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2230686	NM_001145512.2(NFIA):c.95C>T (p.Pro32Leu)	LOC122056894, NFIA (P32L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031169	NM_001145512.2(NFIA):c.104+5G>C	LOC122056894, NFIA	Single nucleotide variant (intron variant)	Chromosome 1p32-p31 deletion syndrome	GUncertain significance
Select item 1296107	NM_001134673.4(NFIA):c.-197GCTG[3]	NFIA	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1295689	NM_001134673.4(NFIA):c.-118CT[11]	NFIA	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2505862	NM_001134673.4(NFIA):c.-30C>A	NFIA (R36S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2500353	NM_001134673.4(NFIA):c.1A>C (p.Met1Leu)	NFIA (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	Brain malformations with or without urinary tract defects	GUncertain significance
Select item 546320	NM_001134673.4(NFIA):c.2T>C (p.Met1Thr)	NFIA (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	NFIA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2571793	NM_001134673.4(NFIA):c.3G>A (p.Met1Ile)	NFIA (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2820503	NM_001134673.4(NFIA):c.15C>T (p.Leu5=)	NFIA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1636804	NM_001134673.4(NFIA):c.15C>G (p.Leu5=)	NFIA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3344300	NM_001134673.4(NFIA):c.17_18del (p.Cys6fs)	NFIA (C51fs +1 more)	Deletion (frameshift variant +1 more)	NFIA-related disorder	GLikely pathogenic
Select item 2083104	NM_001134673.4(NFIA):c.18T>C (p.Cys6=)	NFIA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3197468	NM_001134673.4(NFIA):c.23C>G (p.Thr8Ser)	NFIA (T53S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2738411	NM_001134673.4(NFIA):c.25C>T (p.Gln9Ter)	NFIA (Q54* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2011003	NM_001134673.4(NFIA):c.26A>G (p.Gln9Arg)	NFIA (Q54R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690897	NM_001134673.4(NFIA):c.27+1G>C	NFIA	Single nucleotide variant (intron variant +1 more)	Brain malformations with or without urinary tract defects	GPathogenic
Select item 2031453	NM_001134673.4(NFIA):c.27+8G>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263357	NM_001134673.4(NFIA):c.27+34dup	NFIA	Duplication (intron variant)	not provided	GBenign
Select item 1268971	NM_001134673.4(NFIA):c.27+171T>G	NFIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295342	NM_001134673.4(NFIA):c.27+181del	NFIA	Deletion (intron variant)	not provided	GBenign
Select item 1193083	NM_001134673.4(NFIA):c.28-203G>A	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263383	NM_001134673.4(NFIA):c.28-20C>G	NFIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2778516	NM_001134673.4(NFIA):c.28-6T>G	NFIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 976669	NM_001134673.4(NFIA):c.28-2A>G	NFIA	Single nucleotide variant (splice acceptor variant)	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 1305854	NM_001134673.4(NFIA):c.36T>A (p.Phe12Leu)	NFIA (F12L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249188	NM_001134673.4(NFIA):c.62C>G (p.Pro21Arg)	NFIA (P21R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 420999	NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter)	NFIA (R16* +2 more)	Single nucleotide variant (nonsense)	Brain malformations with or without urinary tract defects +2 more	GPathogenic/Likely pathogenic
Select item 1998609	NM_001134673.4(NFIA):c.79_80delinsTT (p.Ala27Phe)	NFIA (A19F +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2580539	NM_001134673.4(NFIA):c.85A>T (p.Thr29Ser)	NFIA (T21S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031132	NM_001134673.4(NFIA):c.89G>A (p.Trp30Ter)	NFIA (W75* +2 more)	Single nucleotide variant (nonsense)	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 1308662	NM_001134673.4(NFIA):c.100C>T (p.Gln34Ter)	NFIA (Q26* +2 more)	Single nucleotide variant (nonsense)	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 3026014	NM_001134673.4(NFIA):c.102G>A (p.Gln34=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285510	NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter)	NFIA (R28* +2 more)	Single nucleotide variant (nonsense)	Chromosome 1p32-p31 deletion syndrome	GLikely pathogenic
Select item 916098	NM_001134673.4(NFIA):c.106delinsTGAACCTGTATTGAAGTATTT (p.Arg36Ter)	NFIA (R28* +2 more)	Indel (nonsense)	not provided	GLikely pathogenic
Select item 520757	NM_001134673.4(NFIA):c.112C>T (p.Arg38Ter)	NFIA (R30* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521731	NM_001134673.4(NFIA):c.113G>A (p.Arg38Gln)	NFIA (R30Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2098987	NM_001134673.4(NFIA):c.129dup (p.His44fs)	NFIA (H44fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3364717	NM_001134673.4(NFIA):c.131A>G (p.His44Arg)	NFIA (H36R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935961	NM_001134673.4(NFIA):c.138G>A (p.Lys46=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687429	NM_001134673.4(NFIA):c.149_153del (p.Lys50fs)	NFIA (K42fs +2 more)	Deletion (frameshift variant)	Chromosome 1p32-p31 deletion syndrome	GLikely pathogenic
Select item 521564	NM_001134673.4(NFIA):c.148_150del (p.Lys50del)	NFIA (K42del +2 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3012650	NM_001134673.4(NFIA):c.153A>G (p.Glu51=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806144	NM_001134673.4(NFIA):c.160_163del (p.Arg54fs)	NFIA (R46fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2777172	NM_001134673.4(NFIA):c.166G>A (p.Val56Met)	NFIA (V48M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805358	NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)	NFIA (S107R +2 more)	Single nucleotide variant (missense variant)	Brain malformations with or without urinary tract defects	GUncertain significance
Select item 2503167	NM_001134673.4(NFIA):c.188A>G (p.Glu63Gly)	NFIA (E108G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675368	NM_001134673.4(NFIA):c.194C>T (p.Pro65Leu)	NFIA (P110L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2572785	NM_001134673.4(NFIA):c.198G>C (p.Glu66Asp)	NFIA (E111D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980151	NM_001134673.4(NFIA):c.201C>T (p.Val67=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1453616	NM_001134673.4(NFIA):c.205C>T (p.Gln69Ter)	NFIA (Q61* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 523874	NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter)	NFIA (R66* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3372789	NM_001134673.4(NFIA):c.229G>A (p.Ala77Thr)	NFIA (A122T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013239	NM_001134673.4(NFIA):c.243dup (p.Asp82fs)	NFIA (D127fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2786615	NM_001134673.4(NFIA):c.246T>C (p.Asp82=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699181	NM_001134673.4(NFIA):c.248del (p.Ile83fs)	NFIA (I128fs +2 more)	Deletion (frameshift variant)	Brain malformations with or without urinary tract defects	GPathogenic
Select item 3022387	NM_001134673.4(NFIA):c.249C>T (p.Ile83=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 489177	NM_001134673.4(NFIA):c.250C>T (p.Arg84Ter)	NFIA (R76* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2288124	NM_001134673.4(NFIA):c.254C>A (p.Pro85His)	NFIA (P130H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 767675	NM_001134673.4(NFIA):c.255C>T (p.Pro85=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3062033	NM_001134673.4(NFIA):c.256G>A (p.Glu86Lys)	NFIA (E131K +2 more)	Single nucleotide variant (missense variant)	Brain malformations with or without urinary tract defects +1 more	GUncertain significance
Select item 3197480	NM_001134673.4(NFIA):c.267G>C (p.Glu89Asp)	NFIA (E81D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2871682	NM_001134673.4(NFIA):c.274del (p.Val92fs)	NFIA (V137fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2089027	NM_001134673.4(NFIA):c.279_280insGTT (p.Leu93_Thr94insVal)	NFIA	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3367766	NM_001134673.4(NFIA):c.289G>T (p.Gly97Trp)	NFIA (G142W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435980	NM_001134673.4(NFIA):c.297dup (p.Pro100fs)	NFIA (P145fs +2 more)	Duplication (frameshift variant)	Chromosome 1p32-p31 deletion syndrome	GLikely pathogenic
Select item 1805364	NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)	NFIA (K143R +2 more)	Single nucleotide variant (missense variant)	Brain malformations with or without urinary tract defects	GUncertain significance
Select item 1900434	NM_001134673.4(NFIA):c.303A>G (p.Pro101=)	NFIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520892	NM_001134673.4(NFIA):c.307dup (p.Cys103fs)	NFIA (C103fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 423556	NM_001134673.4(NFIA):c.308G>C (p.Cys103Ser)	NFIA (C103S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1804914	NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)	NFIA (V104F +2 more)	Single nucleotide variant (missense variant)	Brain malformations with or without urinary tract defects	GUncertain significance
Select item 1710480	NM_001134673.4(NFIA):c.343C>T (p.Arg115Ter)	NFIA (R107* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1205313	NM_001134673.4(NFIA):c.344GAA[1] (p.Arg116del)	NFIA (R108del +2 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 800728	NM_001134673.4(NFIA):c.352G>C (p.Asp118His)	NFIA (D110H +2 more)	Single nucleotide variant (missense variant)	Chromosome 1p32-p31 deletion syndrome	GLikely pathogenic
Select item 2506869	NM_001134673.4(NFIA):c.356G>A (p.Cys119Tyr)	NFIA (C111Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3197482	NM_001134673.4(NFIA):c.358C>T (p.Leu120Phe)	NFIA (L165F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265253	NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)	NFIA (R113C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 985113	NM_001134673.4(NFIA):c.374_375del (p.Lys125fs)	NFIA (K117fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic

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