"Invitae"[submitter] AND "LOC126860700"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1939169	NM_005458.8(GABBR2):c.732+20G>T	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1610521	NM_005458.8(GABBR2):c.732+14G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2028224	NM_005458.8(GABBR2):c.732+8T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 2721838	NM_005458.8(GABBR2):c.732+7G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 856114	NM_005458.8(GABBR2):c.732+5G>T	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 2795524	NM_005458.8(GABBR2):c.731A>G (p.Lys244Arg)	GABBR2, LOC126860700 (K244R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1543033	NM_005458.8(GABBR2):c.729G>A (p.Leu243=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1167850	NM_005458.8(GABBR2):c.716G>A (p.Ser239Asn)	GABBR2, LOC126860700 (S239N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GBenign
Select item 954516	NM_005458.8(GABBR2):c.709T>G (p.Cys237Gly)	GABBR2, LOC126860700 (C237G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1039959	NM_005458.8(GABBR2):c.707C>T (p.Pro236Leu)	GABBR2, LOC126860700 (P236L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1661556	NM_005458.8(GABBR2):c.705T>C (p.Asp235=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 941510	NM_005458.8(GABBR2):c.703G>A (p.Asp235Asn)	GABBR2, LOC126860700 (D235N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1147891	NM_005458.8(GABBR2):c.702C>T (p.Asn234=)	LOC126860700, GABBR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1085414	NM_005458.8(GABBR2):c.699C>T (p.Ser233=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 962828	NM_005458.8(GABBR2):c.688G>A (p.Glu230Lys)	GABBR2, LOC126860700 (E230K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 872554	NM_005458.8(GABBR2):c.687C>T (p.Thr229=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2822111	NM_005458.8(GABBR2):c.686C>A (p.Thr229Asn)	GABBR2, LOC126860700 (T229N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1925892	NM_005458.8(GABBR2):c.683A>G (p.Asp228Gly)	GABBR2, LOC126860700 (D228G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1569220	NM_005458.8(GABBR2):c.672T>A (p.Ile224=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 568723	NM_005458.8(GABBR2):c.670A>G (p.Ile224Val)	LOC126860700, GABBR2 (I224V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 2187950	NM_005458.8(GABBR2):c.667G>A (p.Asp223Asn)	GABBR2, LOC126860700 (D223N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 2784348	NM_005458.8(GABBR2):c.666G>A (p.Glu222=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 993317	NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys)	LOC126860700, GABBR2 (E222K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 712242	NM_005458.8(GABBR2):c.663C>T (p.Gly221=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 2762149	NM_005458.8(GABBR2):c.643C>A (p.Leu215Met)	GABBR2, LOC126860700 (L215M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1099066	NM_005458.8(GABBR2):c.639T>C (p.Asn213=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1079467	NM_005458.8(GABBR2):c.631-5G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1167957	NM_005458.8(GABBR2):c.631-7C>T	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 783255	NM_005458.8(GABBR2):c.631-8G>A	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1147930	NM_005458.8(GABBR2):c.631-9T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1926944	NM_005458.8(GABBR2):c.631-11T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1988197	NM_005458.8(GABBR2):c.631-13T>G	LOC126860700, GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 3011806	NM_005458.8(GABBR2):c.631-16T>C	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1985377	NM_005458.8(GABBR2):c.631-17T>C	LOC126860700, GABBR2	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign

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Items: 34