NGF[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 183

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 291986	NM_002506.3(NGF):c.*120T>G	NGF, NGF-AS1	Single nucleotide variant (3 prime UTR variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 456636	NM_002506.3(NGF):c.706A>C (p.Lys236Gln)	NGF, NGF-AS1 (K236Q)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 291987	NM_002506.3(NGF):c.687T>C (p.Cys229=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 637471	NM_002506.3(NGF):c.681_682del (p.Ala228fs)	NGF, NGF-AS1 (A228fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 29802	NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs)	NGF, NGF-AS1 (T227fs)	Indel (frameshift variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GPathogenic
Select item 3040020	NM_002506.3(NGF):c.681G>C (p.Thr227=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	NGF-related disorder	GLikely benign
Select item 2185144	NM_002506.3(NGF):c.681G>A (p.Thr227=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 637470	NM_002506.3(NGF):c.680C>A (p.Thr227Lys)	NGF, NGF-AS1 (T227K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 3252704	NM_002506.3(NGF):c.677A>G (p.Asp226Gly)	NGF, NGF-AS1 (D226G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517841	NM_002506.3(NGF):c.672G>A (p.Arg224=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 526749	NM_002506.3(NGF):c.670C>T (p.Arg224Trp)	NGF, NGF-AS1 (R224W)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 392084	NM_002506.3(NGF):c.665T>G (p.Phe222Cys)	NGF, NGF-AS1 (F222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 933958	NM_002506.3(NGF):c.662G>T (p.Arg221Leu)	NGF, NGF-AS1 (R221L)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 14045	NM_002506.3(NGF):c.661C>T (p.Arg221Trp)	NGF, NGF-AS1 (R221W)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 1666622	NM_002506.3(NGF):c.657C>T (p.Ala219=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 526748	NM_002506.3(NGF):c.645C>T (p.Gly215=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 569781	NM_002506.3(NGF):c.638T>C (p.Met213Thr)	NGF, NGF-AS1 (M213T)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 837334	NM_002506.3(NGF):c.632T>C (p.Leu211Pro)	NGF, NGF-AS1 (L211P)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1937074	NM_002506.3(NGF):c.630G>A (p.Ala210=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1334983	NM_002506.3(NGF):c.613C>G (p.His205Asp)	NGF, NGF-AS1 (H205D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616692	NM_002506.3(NGF):c.609G>A (p.Thr203=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 618254	NM_002506.3(NGF):c.600T>C (p.Tyr200=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1415332	NM_002506.3(NGF):c.575T>C (p.Ile192Thr)	NGF, NGF-AS1 (I192T)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1420845	NM_002506.3(NGF):c.573C>T (p.Gly191=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1063239	NM_002506.3(NGF):c.572G>T (p.Gly191Val)	NGF, NGF-AS1 (G191V)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 834309	NM_002506.3(NGF):c.562G>C (p.Gly188Arg)	NGF-AS1, NGF (G188R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 246559	NM_002506.3(NGF):c.562G>A (p.Gly188Arg)	NGF, NGF-AS1 (G188R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 456635	NM_002506.3(NGF):c.561C>T (p.Ser187=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 637364	NM_002506.3(NGF):c.560G>A (p.Ser187Asn)	NGF, NGF-AS1 (S187N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1662263	NM_002506.3(NGF):c.553G>A (p.Val185Ile)	NGF, NGF-AS1 (V185I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 875323	NM_002506.3(NGF):c.552C>T (p.Pro184=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GConflicting classifications of pathogenicity
Select item 1981925	NM_002506.3(NGF):c.544C>T (p.Pro182Ser)	NGF, NGF-AS1 (P182S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 576877	NM_002506.3(NGF):c.539G>A (p.Arg180Gln)	NGF, NGF-AS1 (R180Q)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
Select item 751161	NM_002506.3(NGF):c.537C>T (p.Cys179=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1517452	NM_002506.3(NGF):c.530C>T (p.Thr177Ile)	NGF-AS1, NGF (T177I)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 577597	NM_002506.3(NGF):c.515A>G (p.Gln172Arg)	NGF, NGF-AS1 (Q172R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1364240	NM_002506.3(NGF):c.512A>G (p.Lys171Arg)	NGF, NGF-AS1 (K171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 641867	NM_002506.3(NGF):c.508T>C (p.Phe170Leu)	NGF, NGF-AS1 (F170L)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1302230	NM_002506.3(NGF):c.504T>A (p.Ser168Arg)	NGF, NGF-AS1 (S168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861291	NM_002506.3(NGF):c.491A>T (p.Asn164Ile)	NGF, NGF-AS1 (N164I)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1388445	NM_002506.3(NGF):c.487G>A (p.Val163Met)	NGF, NGF-AS1 (V163M)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 757226	NM_002506.3(NGF):c.486G>A (p.Glu162=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 456634	NM_002506.3(NGF):c.483A>G (p.Gly161=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1743419	NM_002506.3(NGF):c.482G>C (p.Gly161Ala)	NGF, NGF-AS1 (G161A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1144406	NM_002506.3(NGF):c.480G>A (p.Leu160=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 291988	NM_002506.3(NGF):c.477G>A (p.Val159=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 735394	NM_002506.3(NGF):c.468G>A (p.Glu156=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 949043	NM_002506.3(NGF):c.466G>A (p.Glu156Lys)	NGF, NGF-AS1 (E156K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1975009	NM_002506.3(NGF):c.456C>T (p.Ile152=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1430945	NM_002506.3(NGF):c.445G>A (p.Ala149Thr)	NGF, NGF-AS1 (A149T)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1388698	NM_002506.3(NGF):c.445G>T (p.Ala149Ser)	NGF, NGF-AS1 (A149S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1656983	NM_002506.3(NGF):c.441C>T (p.Thr147=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 641309	NM_002506.3(NGF):c.439A>T (p.Thr147Ser)	NGF, NGF-AS1 (T147S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 2420228	NM_002506.3(NGF):c.428T>C (p.Val143Ala)	NGF, NGF-AS1 (V143A)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 2476332	NM_002506.3(NGF):c.421G>A (p.Val141Met)	NGF, NGF-AS1 (V141M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291989	NM_002506.3(NGF):c.421G>C (p.Val141Leu)	NGF, NGF-AS1 (V141L)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1494796	NM_002506.3(NGF):c.420C>T (p.Ser140=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 798339	NM_002506.3(NGF):c.417C>T (p.Val139=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1484755	NM_002506.3(NGF):c.412A>G (p.Ser138Gly)	NGF, NGF-AS1 (S138G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 705935	NM_002506.3(NGF):c.402G>A (p.Ser134=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 567617	NM_002506.3(NGF):c.399C>A (p.Phe133Leu)	NGF, NGF-AS1 (F133L)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1465554	NM_002506.3(NGF):c.394G>A (p.Glu132Lys)	NGF, NGF-AS1 (E132K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 385500	NM_002506.3(NGF):c.393C>T (p.Gly131=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1435816	NM_002506.3(NGF):c.389G>A (p.Arg130Lys)	NGF, NGF-AS1 (R130K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1000642	NM_002506.3(NGF):c.388A>G (p.Arg130Gly)	NGF, NGF-AS1 (R130G)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1161016	NM_002506.3(NGF):c.381C>T (p.Ile127=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 751385	NM_002506.3(NGF):c.372C>T (p.Ser124=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 456633	NM_002506.3(NGF):c.372C>G (p.Ser124=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 456632	NM_002506.3(NGF):c.371C>T (p.Ser124Phe)	NGF, NGF-AS1 (S124F)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1403014	NM_002506.3(NGF):c.361C>T (p.Arg121Trp)	NGF, NGF-AS1 (R121W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1566585	NM_002506.3(NGF):c.354G>A (p.Arg118=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 2841878	NM_002506.3(NGF):c.351C>T (p.His117=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1513060	NM_002506.3(NGF):c.343A>G (p.Arg115Gly)	NGF, NGF-AS1 (R115G)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1483603	NM_002506.3(NGF):c.340A>C (p.Asn114His)	NGF, NGF-AS1 (N114H)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 2118913	NM_002506.3(NGF):c.338T>C (p.Phe113Ser)	NGF, NGF-AS1 (F113S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 848531	NM_002506.3(NGF):c.335C>A (p.Pro112His)	NGF, NGF-AS1 (P112H)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 291990	NM_002506.3(NGF):c.335C>G (p.Pro112Arg)	NGF, NGF-AS1 (P112R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3199148	NM_002506.3(NGF):c.322G>A (p.Gly108Ser)	NGF, NGF-AS1 (G108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330965	NM_002506.3(NGF):c.321C>T (p.Val107=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 835507	NM_002506.3(NGF):c.318G>C (p.Glu106Asp)	NGF, NGF-AS1 (E106D)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 763260	NM_002506.3(NGF):c.318G>A (p.Glu106=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 850380	NM_002506.3(NGF):c.316G>A (p.Glu106Lys)	NGF, NGF-AS1 (E106K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 794226	NM_002506.3(NGF):c.315C>T (p.Phe105=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 245874	NM_002506.3(NGF):c.284G>A (p.Arg95His)	NGF, NGF-AS1 (R95H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1468517	NM_002506.3(NGF):c.283C>T (p.Arg95Cys)	NGF, NGF-AS1 (R95C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 875370	NM_002506.3(NGF):c.283C>A (p.Arg95Ser)	NGF, NGF-AS1 (R95S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1427446	NM_002506.3(NGF):c.280C>A (p.Pro94Thr)	NGF, NGF-AS1 (P94T)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1667514	NM_002506.3(NGF):c.276G>A (p.Gln92=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GBenign
Select item 1357342	NM_002506.3(NGF):c.275A>G (p.Gln92Arg)	NGF, NGF-AS1 (Q92R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 2084358	NM_002506.3(NGF):c.264G>A (p.Leu88=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 2156295	NM_002506.3(NGF):c.262C>T (p.Leu88=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1793360	NM_002506.3(NGF):c.257G>C (p.Arg86Pro)	NGF, NGF-AS1 (R86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456630	NM_002506.3(NGF):c.257G>A (p.Arg86His)	NGF, NGF-AS1 (R86H)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
Select item 1476087	NM_002506.3(NGF):c.253C>T (p.Pro85Ser)	NGF, NGF-AS1 (P85S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1916647	NM_002506.3(NGF):c.248G>A (p.Arg83His)	NGF, NGF-AS1 (R83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 245650	NM_002506.3(NGF):c.247C>T (p.Arg83Cys)	NGF, NGF-AS1 (R83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1101395	NM_002506.3(NGF):c.246C>T (p.Leu82=)	NGF-AS1, NGF	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1791151	NM_002506.3(NGF):c.242G>A (p.Arg81Gln)	NGF, NGF-AS1 (R81Q)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance

<< First< Prev

Page of 2