C2752089[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130270	NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 258888	NM_001365536.1(SCN9A):c.4774+16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +6 more	GBenign
Select item 167657	NM_001365536.1(SCN9A):c.4399-10_4399-7del	SCN1A-AS1, SCN9A	Microsatellite (intron variant)	not specified +9 more	GBenign
Select item 440255	NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)	SCN9A, SCN1A-AS1 (W1161R +1 more)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +6 more	GBenign
Select item 167659	NM_001365536.1(SCN9A):c.2105-14C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GBenign
Select item 130257	NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 130256	NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 130269	NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)	SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 130259	NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)	SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 261069	NM_018979.4(WNK1):c.258T>C (p.Cys86=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
Select item 137927	NM_018979.4(WNK1):c.421G>A (p.Ala141Thr)	WNK1 (A141T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign
Select item 670589	NM_018979.4(WNK1):c.759+27G>A	WNK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670590	NM_018979.4(WNK1):c.1153+40C>G	WNK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 261066	NM_018979.4(WNK1):c.1287A>G (p.Ala429=)	WNK1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 137922	NM_018979.4(WNK1):c.1401-11C>A	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign
Select item 137923	NM_018979.4(WNK1):c.1479T>C (p.Asp493=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
Select item 1164346	NM_213655.5(WNK1):c.2220dup (p.Phe741fs)	WNK1 (F741fs)	Duplication (frameshift variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
Select item 1164347	NM_213655.5(WNK1):c.2268T>C (p.Pro756=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
Select item 261067	NM_018979.4(WNK1):c.2328G>A (p.Gln776=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
Select item 218533	NM_018979.4(WNK1):c.2373+21dup	WNK1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 261070	NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro)	WNK1 (T1056P +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 137926	NM_018979.4(WNK1):c.4044C>T (p.Thr1348=)	WNK1	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2C +3 more	GBenign
Select item 261072	NM_018979.4(WNK1):c.4517G>C (p.Cys1506Ser)	WNK1 (C1506S +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 261073	NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile)	WNK1 (M1808I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 670310	NM_018979.4(WNK1):c.5509+83A>G	WNK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674135	NM_018979.4(WNK1):c.5583+36C>T	WNK1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GBenign
Select item 261074	NM_018979.4(WNK1):c.6828C>T (p.Tyr2276=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign

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Items: 27