BORCS8[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 3134786	NM_001145784.2(BORCS8):c.320G>T (p.Gly107Val)	BORCS8, BORCS8-MEF2B (G107V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2318686	NM_001145784.2(BORCS8):c.292C>T (p.Arg98Trp)	BORCS8, BORCS8-MEF2B (R98W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522142	NM_001145784.2(BORCS8):c.259G>A (p.Val87Met)	BORCS8, BORCS8-MEF2B (V87M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134785	NM_001145784.2(BORCS8):c.254G>T (p.Arg85Leu)	BORCS8, BORCS8-MEF2B (R85L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2515750	NM_001145784.2(BORCS8):c.254G>A (p.Arg85His)	BORCS8, BORCS8-MEF2B (R85H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2210862	NM_001145784.2(BORCS8):c.244G>A (p.Val82Ile)	BORCS8, BORCS8-MEF2B (V82I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2299127	NM_001145784.2(BORCS8):c.220G>A (p.Val74Met)	BORCS8, BORCS8-MEF2B (V74M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134784	NM_001145784.2(BORCS8):c.163C>T (p.Arg55Cys)	BORCS8, BORCS8-MEF2B (R55C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2598081	NM_001145784.2(BORCS8):c.157A>G (p.Met53Val)	BORCS8, BORCS8-MEF2B (M53V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2251570	NM_001145784.2(BORCS8):c.119G>A (p.Arg40His)	BORCS8, BORCS8-MEF2B (R40H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2233462	NM_001145784.2(BORCS8):c.88G>A (p.Val30Met)	BORCS8, BORCS8-MEF2B (V30M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2411527	NM_001145784.2(BORCS8):c.85T>C (p.Ser29Pro)	BORCS8, BORCS8-MEF2B (S29P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2284294	NM_001145784.2(BORCS8):c.79G>A (p.Glu27Lys)	BORCS8, BORCS8-MEF2B (E27K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2246455	NM_001145784.2(BORCS8):c.74C>G (p.Ala25Gly)	BORCS8, BORCS8-MEF2B (A25G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2560275	NM_001145784.2(BORCS8):c.59G>A (p.Ser20Asn)	BORCS8, BORCS8-MEF2B (S20N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2464015	NM_001145784.2(BORCS8):c.11C>T (p.Pro4Leu)	BORCS8, BORCS8-MEF2B (P4L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 29