NTF4[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1254939	NM_006179.5(NTF4):c.*110A>G	NTF4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2600963	NM_006179.5(NTF4):c.626G>A (p.Arg209Gln)	NTF4 (R209Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411869	NM_006179.5(NTF4):c.625C>T (p.Arg209Trp)	NTF4 (R209W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14019	NM_006179.5(NTF4):c.617G>A (p.Arg206Gln)	NTF4 (R206Q)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, O	GPathogenic
Select item 14018	NM_006179.5(NTF4):c.616C>T (p.Arg206Trp)	NTF4 (R206W)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, O	GConflicting classifications of pathogenicity
Select item 208763	NM_006179.5(NTF4):c.521A>G (p.Gln174Arg)	NTF4 (Q174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2301415	NM_006179.5(NTF4):c.514G>A (p.Ala172Thr)	NTF4 (A172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202554	NM_006179.5(NTF4):c.478G>A (p.Gly160Arg)	NTF4 (G160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301242	NM_006179.5(NTF4):c.461G>A (p.Gly154Asp)	NTF4 (G154D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043136	NM_006179.5(NTF4):c.453G>A (p.Pro151=)	NTF4	Single nucleotide variant (synonymous variant)	NTF4-related disorder	GLikely benign
Select item 2313465	NM_006179.5(NTF4):c.397C>T (p.Arg133Cys)	NTF4 (R133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605020	NM_006179.5(NTF4):c.379G>T (p.Ala127Ser)	NTF4 (A127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513455	NM_006179.5(NTF4):c.323G>A (p.Arg108Gln)	NTF4 (R108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399933	NM_006179.5(NTF4):c.322C>T (p.Arg108Trp)	NTF4 (R108W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14017	NM_006179.5(NTF4):c.263C>T (p.Ala88Val)	NTF4 (A88V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GLikely benign
Select item 3301239	NM_006179.5(NTF4):c.229C>T (p.Arg77Cys)	NTF4 (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783846	NM_006179.5(NTF4):c.203G>A (p.Arg68Gln)	NTF4 (R68Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2308113	NM_006179.5(NTF4):c.160G>A (p.Ala54Thr)	NTF4 (A54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332650	NM_006179.5(NTF4):c.157C>T (p.Pro53Ser)	NTF4 (P53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301241	NM_006179.5(NTF4):c.151G>A (p.Gly51Ser)	NTF4 (G51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344980	NM_006179.5(NTF4):c.-12-64C>T	NTF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317038	NM_006179.5(NTF4):c.-12-152C>T	NTF4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 22