"Ambry Genetics"[submitter] AND "NGF"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246559	NM_002506.3(NGF):c.562G>A (p.Gly188Arg)	NGF, NGF-AS1 (G188R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +2 more	GUncertain significance
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 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 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 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 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 291990	NM_002506.3(NGF):c.335C>G (p.Pro112Arg)	NGF, NGF-AS1 (P112R)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +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 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 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-AS1, NGF (R86H)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +2 more	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)	not provided +2 more	GConflicting classifications of pathogenicity
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
Select item 1784880	NM_002506.3(NGF):c.203G>A (p.Arg68His)	NGF, NGF-AS1 (R68H)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
Select item 526750	NM_002506.3(NGF):c.202C>T (p.Arg68Cys)	NGF, NGF-AS1 (R68C)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
Select item 291992	NM_002506.3(NGF):c.196C>A (p.Gln66Lys)	NGF, NGF-AS1 (Q66K)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
Select item 456628	NM_002506.3(NGF):c.191C>T (p.Ala64Val)	NGF, NGF-AS1 (A64V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 662388	NM_002506.3(NGF):c.185G>A (p.Arg62His)	NGF, NGF-AS1 (R62H)	Single nucleotide variant (missense variant)	not provided +2 more	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 456627	NM_002506.3(NGF):c.173C>T (p.Ala58Val)	NGF, NGF-AS1 (A58V)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GBenign/Likely benign
Select item 456626	NM_002506.3(NGF):c.170C>T (p.Ala57Val)	NGF, NGF-AS1 (A57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 645117	NM_002506.3(NGF):c.154C>T (p.Arg52Cys)	NGF, NGF-AS1 (R52C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 644505	NM_002506.3(NGF):c.146G>A (p.Arg49His)	NGF, NGF-AS1 (R49H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 456625	NM_002506.3(NGF):c.133G>A (p.Asp45Asn)	NGF, NGF-AS1 (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 526746	NM_002506.3(NGF):c.53C>T (p.Ala18Val)	NGF, NGF-AS1 (A18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 876404	NM_002506.3(NGF):c.43G>A (p.Gly15Ser)	NGF, NGF-AS1 (G15S)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GConflicting classifications of pathogenicity
Select item 649484	NM_002506.3(NGF):c.31G>A (p.Ala11Thr)	NGF, NGF-AS1 (A11T)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GUncertain significance
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 1769373	NM_002506.3(NGF):c.12G>C (p.Leu4Phe)	NGF, NGF-AS1 (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 32