ClinVar for Gene (Select 4803) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040020	NM_002506.3(NGF):c.681G>C (p.Thr227=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	NGF-related condition	GLikely benign
Select item 3017833	NM_002506.3(NGF):c.150A>G (p.Arg50=)	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 2836270	NM_002506.3(NGF):c.6C>T (p.Ser2=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2541152	NM_002506.3(NGF):c.23T>C (p.Leu8Pro)	NGF, NGF-AS1 (L8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507344	NM_002506.3(NGF):c.163C>G (p.Pro55Ala)	NGF, NGF-AS1 (P55A)	Single nucleotide variant (missense variant)	not provided	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 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	SIKE1, DENND2C +23 more	Duplication	RASopathy	GUncertain significance
Select item 2424474	NC_000001.10:g.(?_115828691)_(115829416_?)dup	NGF	Duplication	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 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 2181214	NM_002506.3(NGF):c.241C>T (p.Arg81Ter)	NGF, NGF-AS1 (R81*)	Single nucleotide variant (nonsense)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GPathogenic
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 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 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 2019689	NM_002506.3(NGF):c.240G>C (p.Arg80=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
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 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 1972991	NM_002506.3(NGF):c.32C>T (p.Ala11Val)	NGF, NGF-AS1 (A11V)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1963302	NM_002506.3(NGF):c.95T>C (p.Ile32Thr)	NGF, NGF-AS1 (I32T)	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 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 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 1791151	NM_002506.3(NGF):c.242G>A (p.Arg81Gln)	NGF, NGF-AS1 (R81Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1784880	NM_002506.3(NGF):c.203G>A (p.Arg68His)	NGF, NGF-AS1 (R68H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1769373	NM_002506.3(NGF):c.12G>C (p.Leu4Phe)	NGF, NGF-AS1 (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750964	NM_002506.3(NGF):c.59C>T (p.Pro20Leu)	NGF, NGF-AS1 (P20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1671281	NM_002506.3(NGF):c.219C>T (p.Asp73=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1670188	NM_002506.3(NGF):c.165G>C (p.Pro55=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
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 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 1662263	NM_002506.3(NGF):c.553G>A (p.Val185Ile)	NGF, NGF-AS1 (V185I)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GConflicting classifications of pathogenicity
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 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 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 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
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 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 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 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 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 1477163	NM_002506.3(NGF):c.124C>G (p.His42Asp)	NGF, NGF-AS1 (H42D)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	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 1472973	NM_002506.3(NGF):c.222_223delinsAG (p.Arg75Gly)	NGF, NGF-AS1 (R75G)	Indel (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1472892	NM_002506.3(NGF):c.43G>C (p.Gly15Arg)	NGF-AS1, NGF (G15R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1468579	NM_002506.3(NGF):c.136A>G (p.Thr46Ala)	NGF, NGF-AS1 (T46A)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
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 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 1440292	NM_002506.3(NGF):c.188T>C (p.Val63Ala)	NGF-AS1, NGF (V63A)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
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 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 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 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 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 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 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 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 1364240	NM_002506.3(NGF):c.512A>G (p.Lys171Arg)	NGF, NGF-AS1 (K171R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
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 1350197	NM_002506.3(NGF):c.124C>T (p.His42Tyr)	NGF, NGF-AS1 (H42Y)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
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 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 1321748	NM_002506.3(NGF):c.-13+185T>C	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302731	NM_002506.3(NGF):c.-136-167C>T	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1296050	NM_002506.3(NGF):c.-13+145C>A	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242629	NM_002506.3(NGF):c.-137+150T>G	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230737	NM_002506.3(NGF):c.-13+228G>A	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163151	NM_002506.3(NGF):c.205A>C (p.Asn69His)	NGF, NGF-AS1 (N69H)	Single nucleotide variant (missense variant)	not provided	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 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 1137826	NM_002506.3(NGF):c.201C>A (p.Thr67=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 1114469	NM_002506.3(NGF):c.69G>A (p.Glu23=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
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 1084824	NM_002506.3(NGF):c.18C>T (p.Tyr6=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
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 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 1028026	NM_002506.3(NGF):c.224G>A (p.Arg75Lys)	NGF, NGF-AS1 (R75K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1024609	NM_002506.3(NGF):c.187G>A (p.Val63Met)	NGF, NGF-AS1 (V63M)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 1019949	NC_000001.10:g.(?_115828681)_(115829426_?)dup	NGF	Duplication	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 969328	NM_002506.3(NGF):c.193G>A (p.Gly65Arg)	NGF, NGF-AS1 (G65R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 964644	NM_002506.3(NGF):c.208A>G (p.Ile70Val)	NGF, NGF-AS1 (I70V)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
Select item 962933	NM_002506.3(NGF):c.145C>A (p.Arg49Ser)	NGF, NGF-AS1 (R49S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GUncertain significance
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 940245	NM_002506.3(NGF):c.216G>A (p.Val72=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	GLikely benign
Select item 936678	NM_002506.3(NGF):c.52G>T (p.Ala18Ser)	NGF, NGF-AS1 (A18S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers	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 876404	NM_002506.3(NGF):c.43G>A (p.Gly15Ser)	NGF, NGF-AS1 (G15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 848301	NM_002506.3(NGF):c.184C>T (p.Arg62Cys)	NGF, NGF-AS1 (R62C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841314	NM_002506.3(NGF):c.238C>T (p.Arg80Trp)	NGF, NGF-AS1 (R80W)	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 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

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