C2752089[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94091	NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr)	SCN1A-AS1, SCN9A (I1917T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 538446	NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys)	SCN1A-AS1, SCN9A (R1891C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GConflicting classifications of pathogenicity
Select item 945950	NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser)	SCN1A-AS1, SCN9A (P1722S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 254095	NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)	SCN1A-AS1, SCN9A (V810M +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +7 more	GConflicting classifications of pathogenicity
Select item 245859	NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser)	SCN1A-AS1, SCN9A (T773S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 30357	NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	SCN1A-AS1, SCN9A (I720K +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +8 more	GConflicting classifications of pathogenicity
Select item 538474	NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys)	SCN1A-AS1, SCN9A (E582K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 234892	NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg)	SCN9A, SCN1A-AS1 (S550R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 193859	NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)	SCN1A-AS1, SCN9A (E519K)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +7 more	GConflicting classifications of pathogenicity
Select item 234638	NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser)	SCN1A-AS1, SCN9A (L427S)	Single nucleotide variant (missense variant)	Primary erythromelalgia +7 more	GUncertain significance
Select item 432286	NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln)	SCN9A (R214Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 848303	NM_001365536.1(SCN9A):c.49A>G (p.Lys17Glu)	SCN9A (K17E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 532868	NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)	KIF1A (E1637K +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GConflicting classifications of pathogenicity
Select item 162060	NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	KIF1A (R316W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +6 more	GPathogenic/Likely pathogenic
Select item 424999	NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)	WNK1 (R788C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 245939	NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)	WNK1 (L869I +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 953647	NM_213655.5(WNK1):c.3633+1G>T	WNK1	Single nucleotide variant (splice donor variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely pathogenic
Select item 1028132	NM_018979.4(WNK1):c.2267A>C (p.Gln756Pro)	WNK1 (Q755P +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 657096	NM_018979.4(WNK1):c.4739C>T (p.Pro1580Leu)	WNK1 (P1832L +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance