ClinVar for PMC (Select 3719402) - ClinVar - NCBI

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Links from PMC

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2076260	NM_003647.3(DGKE):c.219C>G (p.Tyr73Ter)	DGKE (Y73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2027497	NM_003647.3(DGKE):c.943_944insT (p.Asp315fs)	DGKE (D315fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1986461	NM_003647.3(DGKE):c.562_583del (p.Pro188fs)	DGKE (P188fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1455376	NM_003647.3(DGKE):c.888+1G>C	DGKE	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1409980	NM_003647.3(DGKE):c.427C>T (p.Gln143Ter)	DGKE (Q143*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +1 more	GPathogenic
Select item 1409113	NM_003647.3(DGKE):c.328G>T (p.Glu110Ter)	DGKE (E110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 635454	NM_003647.3(DGKE):c.610dup (p.Thr204fs)	DGKE (T204fs)	Duplication (frameshift variant)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
Select item 441168	NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg)	CLCN2 (S865R +3 more)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II	GPathogenic
Select item 441167	NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter)	CLCN2 (K362* +1 more)	Single nucleotide variant (nonsense)	Familial hyperaldosteronism type II	GPathogenic
Select item 441166	NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn)	CLCN2 (Y26N)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II	GPathogenic
Select item 441165	NM_004366.6(CLCN2):c.65T>A (p.Met22Lys)	CLCN2 (M22K)	Single nucleotide variant (missense variant)	Familial hyperaldosteronism type II	GPathogenic
Select item 441164	NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)	CLCN2 (R172Q +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema +2 more	GPathogenic
Select item 135641	NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	DGKE (W322*)	Single nucleotide variant (nonsense)	Immunoglobulin-mediated membranoproliferative glomerulonephritis +2 more	GPathogenic
Select item 135639	NM_003647.3(DGKE):c.486dup (p.Val163fs)	DGKE (V163fs)	Duplication (frameshift variant)	Atypical hemolytic-uremic syndrome +1 more	GLikely pathogenic; risk factor
Select item 50790	NM_003647.3(DGKE):c.818G>C (p.Arg273Pro)	DGKE (R273P)	Single nucleotide variant (missense variant)	AHUS, SUSCEPTIBILITY TO, 7 +1 more	GLikely pathogenic; risk factor
Select item 50789	NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)	DGKE (S11*)	Single nucleotide variant (nonsense)	AHUS, SUSCEPTIBILITY TO, 7 +1 more	GLikely pathogenic; risk factor
Select item 50788	NM_003647.2(DGKE):c.188G>C (p.Arg63Pro)	DGKE (R63P)	Single nucleotide variant (missense variant)	AHUS, SUSCEPTIBILITY TO, 7	Grisk factor