ClinVar for MedGen (Select 327088) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323345	NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg)	WNK4 (P946R +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +1 more	GConflicting classifications of pathogenicity
Select item 323315	NM_032387.5(WNK4):c.717G>T (p.Ser239=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2A	GLikely benign
Select item 310834	NM_018979.4(WNK1):c.5370G>T (p.Gln1790His)	WNK1 (Q2042H +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 310831	NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)	WNK1 (S1536del +3 more)	Deletion (inframe_deletion)	not specified +6 more	GBenign/Likely benign
Select item 310752	NM_018979.4(WNK1):c.2652G>A (p.Ala884=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 2 +4 more	GConflicting classifications of pathogenicity
Select item 310751	NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg)	WNK1 (T875R)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 310547	NM_018979.4(WNK1):c.759+16_759+18dup	WNK1	Duplication (intron variant)	Pseudohypoaldosteronism type 2C +4 more	GBenign
Select item 310523	NM_018979.4(WNK1):c.-308G>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 310521	NM_018979.4(WNK1):c.-351dup	WNK1	Duplication (5 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306741	NM_018979.4(WNK1):c.2615_2618dup	WNK1	Duplication (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 306737	NM_018979.4(WNK1):c.2576_2579dup	WNK1	Duplication (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306726	NM_018979.4(WNK1):c.2378_2381dup	WNK1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306715	NM_018979.4(WNK1):c.2192_2196dup	WNK1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306708	NM_018979.4(WNK1):c.*1932AG[1]	WNK1	Microsatellite (3 prime UTR variant)	Pseudohypoaldosteronism type 2A	GLikely benign
Select item 306702	NM_018979.4(WNK1):c.*1904CAC[5]	WNK1	Microsatellite (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306701	NM_018979.4(WNK1):c.*1904dup	WNK1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306697	NM_018979.4(WNK1):c.*1722ATTA[1]	WNK1	Microsatellite (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GLikely benign
Select item 306692	NM_018979.4(WNK1):c.*1347del	WNK1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306687	NM_018979.4(WNK1):c.1132_1133del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306686	NM_018979.4(WNK1):c.*1060C>G	WNK1	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 306683	NM_018979.4(WNK1):c.772_776del	WNK1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306681	NM_018979.4(WNK1):c.*762CT[1]	WNK1	Microsatellite (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306679	NM_018979.4(WNK1):c.654_655del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 306676	NM_018979.4(WNK1):c.*628del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306675	NM_018979.4(WNK1):c.*628dup	WNK1	Duplication (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306674	NM_018979.4(WNK1):c.487_490del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A	GLikely benign
Select item 266041	NM_003590.5(CUL3):c.1377G>A (p.Lys459=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2A	GLikely pathogenic
Select item 195834	NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)	WNK1 (I2164L +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +5 more	GConflicting classifications of pathogenicity
Select item 100550	NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)	KLHL3 (S432N +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GLikely pathogenic
Select item 100548	NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp)	KLHL3 (R575W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100545	NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln)	KLHL3 (R431Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100544	NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln)	KLHL3 (R384Q +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100541	NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg)	KLHL3 (Q309R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100540	NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter)	KLHL3 (Q144* +2 more)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100539	NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr)	KLHL3 (P501T +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100538	NM_017415.3(KLHL3):c.232A>G (p.Met78Val)	KLHL3 (M78V +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100537	NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr)	KLHL3 (M427T +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100536	NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro)	KLHL3 (L387P +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 100534	NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala)	KLHL3 (E85A +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100533	NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe)	KLHL3 (C164F +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100532	NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu)	KLHL3 (A77E +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100531	NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr)	KLHL3 (A494T +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100530	NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val)	KLHL3 (A340V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100529	NM_017415.3(KLHL3):c.753+1G>A	KLHL3	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100528	NM_017415.3(KLHL3):c.721del (p.Leu241fs)	KLHL3 (L241fs +2 more)	Deletion (frameshift variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100527	NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter)	KLHL3 (W470* +2 more)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism type 2D +1 more	GPathogenic
Select item 100526	NM_003590.5(CUL3):c.1377+3A>G	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100525	NM_003590.5(CUL3):c.1377+1G>C	CUL3	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100524	NM_003590.5(CUL3):c.1377+1dup	CUL3	Duplication (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100523	NM_003590.5(CUL3):c.1376_1377+4del	CUL3	Deletion (splice donor variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100522	NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg)	CUL3 (K459R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100521	NM_003590.5(CUL3):c.1236G>A (p.Leu412=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2A	GPathogenic
Select item 100520	NM_003590.5(CUL3):c.1207-5T>A	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +1 more	GPathogenic
Select item 100519	NM_003590.5(CUL3):c.1207-3C>T	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +1 more	GPathogenic
Select item 100518	NM_003590.5(CUL3):c.1207-28T>G	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +1 more	GPathogenic
Select item 100517	NM_003590.5(CUL3):c.1207-26A>G	CUL3	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 100516	NM_003590.5(CUL3):c.1207-1G>A	CUL3	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism type 2E +1 more	GPathogenic
Select item 100515	NM_003590.5(CUL3):c.1207-12T>G	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +1 more	GPathogenic
Select item 30523	NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)	KLHL3 (S433N +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +1 more	GPathogenic
Select item 30522	NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)	KLHL3 (R528C +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GPathogenic/Likely pathogenic
Select item 30521	NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys)	KLHL3 (Y557C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30520	NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)	KLHL3 (R336I +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +1 more	GPathogenic
Select item 30519	NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)	KLHL3 (R240* +2 more)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism type 2D	GPathogenic
Select item 30518	NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)	KLHL3 (R528H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 30517	NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)	KLHL3 (S410L +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +1 more	GPathogenic
Select item 30516	NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys)	KLHL3 (F322C +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +1 more	GPathogenic
Select item 30323	NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly)	CUL3 (D413G +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +1 more	GPathogenic

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Items: 67