Related gene-specific medical variations for Gene (Select 23114) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063510	GRCh37/hg19 1q32.1(chr1:204864008-204929778)x1	NFASC	Copy number loss	not specified	GUncertain significance
Select item 2441922	NM_001005388.3(NFASC):c.1688C>T (p.Pro563Leu)	NFASC (P557L +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2434344	NM_001005388.3(NFASC):c.2234A>C (p.Glu745Ala)	NFASC (E741A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2434343	NM_001005388.3(NFASC):c.1673T>A (p.Leu558Gln)	NFASC (L552Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2434342	NM_001005388.3(NFASC):c.-90-4920C>T	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2434339	NM_001005388.3(NFASC):c.2452G>A (p.Gly818Ser)	NFASC (G814S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 1701624	NM_001005388.3(NFASC):c.3176C>T (p.Ala1059Val)	NFASC (A1059V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 1701623	NM_001005388.3(NFASC):c.2734G>A (p.Val912Ile)	NFASC (V1015I +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 1342404	NM_001005388.3(NFASC):c.3673G>A (p.Glu1225Lys)	NFASC (E1047K +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 996994	NM_001005388.3(NFASC):c.-91+5855A>G	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 996990	NM_001005388.3(NFASC):c.2012A>G (p.Gln671Arg)	NFASC (Q667R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance