"Ambry Genetics"[submitter] AND "NFIA"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 520757	NM_001134673.4(NFIA):c.112C>T (p.Arg38Ter)	NFIA (R30* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 521564	NM_001134673.4(NFIA):c.148_150del (p.Lys50del)	NFIA (K42del +2 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2288124	NM_001134673.4(NFIA):c.254C>A (p.Pro85His)	NFIA (P130H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 520892	NM_001134673.4(NFIA):c.307dup (p.Cys103fs)	NFIA (C103fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 265253	NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)	NFIA (R113C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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
Select item 986014	NM_001134673.4(NFIA):c.559+1G>T	NFIA	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2528001	NM_001134673.4(NFIA):c.728A>G (p.Asn243Ser)	NFIA (N288S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277607	NM_001134673.4(NFIA):c.769A>G (p.Met257Val)	NFIA (M302V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489474	NM_001134673.4(NFIA):c.887G>C (p.Gly296Ala)	NFIA (G296A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296520	NM_001134673.4(NFIA):c.961A>G (p.Thr321Ala)	NFIA (T313A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520601	NM_001134673.4(NFIA):c.1076-1G>A	NFIA	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 521252	NM_001134673.4(NFIA):c.1145_1148del (p.Tyr382fs)	NFIA (Y382fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 770849	NM_001134673.4(NFIA):c.1255-5_1255-4insTC	NFIA	Insertion (intron variant)	Inborn genetic diseases +1 more	GBenign
Select item 2319534	NM_001134673.4(NFIA):c.1282C>T (p.His428Tyr)	NFIA (H428Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307449	NM_001134673.4(NFIA):c.1316C>G (p.Pro439Arg)	NFIA (P431R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192729	NM_001134673.4(NFIA):c.1355C>T (p.Pro452Leu)	NFIA (P452L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2214898	NM_001134673.4(NFIA):c.1459G>C (p.Val487Leu)	NFIA (V479L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280514	NM_001134673.4(NFIA):c.1513-3C>T	NFIA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance

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Items: 23