C1969810[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 959670	NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)	GABRG2 (R102S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 450747	NM_198904.4(GABRG2):c.471del (p.Ala158fs)	GABRG2 (A158fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2627568	NM_198904.4(GABRG2):c.631+2T>C	GABRG2	Single nucleotide variant (splice donor variant)	Febrile seizures, familial, 8	GLikely pathogenic
Select item 620250	NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)	GABRG2 (R224* +6 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 205549	NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)	GABRG2 (R323W +8 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +4 more	GConflicting classifications of pathogenicity
Select item 1021840	NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)	GABRG2 (D230Y +8 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +2 more	GUncertain significance
Select item 1325835	NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)	GABRG2 (A305V +13 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +2 more	GUncertain significance
Select item 369770	NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	KCNQ2 (G301S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic