C2752089[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931454	NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr)	SCN1A-AS1, SCN9A (M1852T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 931881	NM_001365536.1(SCN9A):c.4243G>A (p.Ala1415Thr)	SCN9A, SCN1A-AS1 (A1415T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 194737	NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)	SCN9A, SCN1A-AS1 (V1106L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 194498	NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)	SCN1A-AS1, SCN9A (M787V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GBenign/Likely benign
Select item 931317	NM_001365536.1(SCN9A):c.2299C>T (p.Pro767Ser)	SCN1A-AS1, SCN9A (P756S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 408580	NM_001365536.1(SCN9A):c.2129G>A (p.Cys710Tyr)	SCN1A-AS1, SCN9A (C699Y +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 6367	NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)	SCN1A-AS1, SCN9A (K666R)	Single nucleotide variant (missense variant)	SCN9A-related disorder +8 more	GBenign/Likely benign
Select item 374104	NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter)	SCN1A-AS1, SCN9A (R548*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 198153	NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)	SCN9A (I228M)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +8 more	GConflicting classifications of pathogenicity
Select item 374103	NM_001365536.1(SCN9A):c.377+5C>T	SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 930462	NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His)	KIF1A (R1727H +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 930552	NM_001244008.2(KIF1A):c.4537C>G (p.Leu1513Val)	KIF1A (L1430V +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 464232	NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp)	KIF1A (R1123W +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 930397	NM_001244008.2(KIF1A):c.3640+12C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 931740	NM_001244008.2(KIF1A):c.3064-13C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 162060	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A (R316W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +6 more	GPathogenic/Likely pathogenic
Select item 930566	NM_001244008.2(KIF1A):c.527C>T (p.Pro176Leu)	KIF1A (P176L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 931381	NM_001244008.2(KIF1A):c.393C>A (p.Asn131Lys)	KIF1A (N131K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 931326	NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg)	WNK1 (G2118R +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GConflicting classifications of pathogenicity