"GeneDx"[submitter] AND "NGF"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 675725	NM_002506.3(NGF):c.-12-118G>C	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230737	NM_002506.3(NGF):c.-13+228G>A	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1296050	NM_002506.3(NGF):c.-13+145C>A	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291995	NM_002506.3(NGF):c.-13+14G>A	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 386971	NM_002506.3(NGF):c.-120C>T	NGF, NGF-AS1	Single nucleotide variant (5 prime UTR variant)	not specified	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 1242629	NM_002506.3(NGF):c.-137+150T>G	NGF, NGF-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512889	NM_002506.3(NGF):c.-137+13G>T	NGF-AS1, NGF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 667672	NM_002506.2(NGF):c.-367C>T	NGF, NGF-AS1	Single nucleotide variant	not provided	GBenign

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Items: 29