"Genome-Nilou Lab"[submitter] AND "NGF"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 291991	NM_002506.3(NGF):c.239G>A (p.Arg80Gln)	NGF, NGF-AS1 (R80Q)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GBenign/Likely benign
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 456629	NM_002506.3(NGF):c.214G>A (p.Val72Met)	NGF, NGF-AS1 (V72M)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +2 more	GBenign/Likely benign
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 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 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 291993	NM_002506.3(NGF):c.104C>T (p.Ala35Val)	NGF, NGF-AS1 (A35V)	Single nucleotide variant (missense variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GBenign
Select item 384001	NM_002506.3(NGF):c.78C>T (p.Val26=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GBenign/Likely benign
Select item 291994	NM_002506.3(NGF):c.54G>A (p.Ala18=)	NGF, NGF-AS1	Single nucleotide variant (synonymous variant)	Congenital sensory neuropathy with selective loss of small myelinated fibers +1 more	GBenign
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 456631	NM_002506.3(NGF):c.35T>G (p.Phe12Cys)	NGF, NGF-AS1 (F12C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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

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Items: 31