Related gene-specific medical variations for Gene (Select 4774) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065686	NM_001134673.4(NFIA):c.650_651del (p.Phe217fs)	NFIA (F209fs +2 more)	Deletion (frameshift variant)	Brain malformations with or without urinary tract defects	GLikely pathogenic
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	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 condition	GLikely benign
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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 2434345	NM_001134673.4(NFIA):c.*66C>T	NFIA	Single nucleotide variant (3 prime UTR variant)	Brain malformations with or without urinary tract defects	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 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 931857	NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter)	NFIA (Q410* +2 more)	Single nucleotide variant (nonsense)	Chromosome 1p32-p31 deletion syndrome	GLikely pathogenic
Select item 814086	GRCh37/hg19 1p31.3(chr1:61704029-62125970)x3	NFIA	Copy number gain	not provided	GUncertain significance
Select item 686091	GRCh37/hg19 1p31.3(chr1:61699736-62127097)x3	NFIA	Copy number gain	not provided	GUncertain significance
Select item 685456	GRCh37/hg19 1p31.3(chr1:61551732-61620930)x1	NFIA	Copy number loss	not provided	GPathogenic
Select item 684974	GRCh37/hg19 1p31.3(chr1:61703965-62127729)x3	NFIA	Copy number gain	not provided	GUncertain significance
Select item 221410	GRCh37/hg19 1p31.3(chr1:61543299-61548462)x7	NFIA	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance