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

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

Search results

Items: 28

	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)	Inborn genetic diseases +2 more	GLikely benign
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)	not provided +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-AS1, NGF	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28