ClinVar for MedGen (Select 1674767) - ClinVar

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

Links from MedGen

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236445	NM_001005388.3(NFASC):c.526A>G (p.Met176Val)	NFASC (M170V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 2443359	NM_001005388.3(NFASC):c.1291C>T (p.Arg431Trp)	NFASC (R425W +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	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 2434341	NM_001005388.3(NFASC):c.1963A>G (p.Asn655Asp)	NFASC (N651D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434340	NM_001005388.3(NFASC):c.2318G>A (p.Arg773Gln)	NFASC (R769Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2342992	NM_001005388.3(NFASC):c.2738C>T (p.Thr913Ile)	NFASC (T1020I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2224398	NM_001005388.3(NFASC):c.1594G>T (p.Val532Leu)	NFASC (V543L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1805234	NM_001005388.3(NFASC):c.22C>T (p.Pro8Ser)	NFASC (P8S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction +2 more	GConflicting classifications of pathogenicity
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 1325902	NM_001005388.3(NFASC):c.1554C>A (p.Val518=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GBenign
Select item 1325901	NM_001005388.3(NFASC):c.1280-22A>T	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GBenign
Select item 1325900	NM_001005388.3(NFASC):c.215+14A>G	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GBenign
Select item 1233783	NM_001005388.3(NFASC):c.3024T>C (p.Pro1008=)	NFASC	Single nucleotide variant (synonymous variant +1 more)	NFASC-related disorder +2 more	GBenign
Select item 1030403	NM_001005388.3(NFASC):c.2593+5G>A	NFASC	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 1030402	NM_001005388.3(NFASC):c.2398C>T (p.Arg800Ter)	NFASC (R800* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GLikely pathogenic
Select item 1029991	NM_001005388.3(NFASC):c.3133G>A (p.Asp1045Asn)	NFASC (D1045N +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GUncertain significance
Select item 1029990	NM_001005388.3(NFASC):c.2918C>T (p.Thr973Ile)	NFASC (T1080I +1 more)	Single nucleotide variant (missense variant +1 more)	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
Select item 976449	NM_001005388.3(NFASC):c.3556G>T (p.Glu1186Ter)	NFASC (E1008* +5 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GLikely pathogenic
Select item 976448	NM_001160331.2(NFASC):c.2677C>T (p.Gln893Ter)	NFASC (Q878* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GLikely pathogenic
Select item 620657	NM_001005388.3(NFASC):c.3365T>A (p.Val1122Glu)	NFASC (V1122E +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GPathogenic
Select item 620656	NM_001160331.2(NFASC):c.2536C>T (p.Arg846Ter)	NFASC (R846* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GPathogenic
Select item 620655	NM_001005388.3(NFASC):c.1076G>C (p.Arg359Pro)	NFASC (R370P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 30