ClinVar for Gene (Select 4909) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3301241	NM_006179.5(NTF4):c.151G>A (p.Gly51Ser)	NTF4 (G51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3202554	NM_006179.5(NTF4):c.478G>A (p.Gly160Arg)	NTF4 (G160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
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 2605020	NM_006179.5(NTF4):c.379G>T (p.Ala127Ser)	NTF4 (A127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2513455	NM_006179.5(NTF4):c.323G>A (p.Arg108Gln)	NTF4 (R108Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	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 2399933	NM_006179.5(NTF4):c.322C>T (p.Arg108Trp)	NTF4 (R108W)	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 2313465	NM_006179.5(NTF4):c.397C>T (p.Arg133Cys)	NTF4 (R133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2301415	NM_006179.5(NTF4):c.514G>A (p.Ala172Thr)	NTF4 (A172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	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
Select item 1254939	NM_006179.5(NTF4):c.*110A>G	NTF4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 783846	NM_006179.5(NTF4):c.203G>A (p.Arg68Gln)	NTF4 (R68Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
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 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

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Links from Gene

Items: 33