LOC126860700[gene] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1253680	NM_005458.8(GABBR2):c.732+220A>G	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202001	NM_005458.8(GABBR2):c.732+43A>G	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	not provided +1 more	GUncertain significance
Select item 1147891	NM_005458.8(GABBR2):c.702C>T (p.Asn234=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +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 1695257	NM_005458.8(GABBR2):c.692G>A (p.Ser231Asn)	LOC126860700, GABBR2 (S231N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	GABBR2, LOC126860700 (I224V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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)	GABBR2, LOC126860700 (E222K)	Single nucleotide variant (missense variant)	not provided +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 985861	NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln)	GABBR2, LOC126860700 (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51