BRME1[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
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 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 2649401	NM_001345843.2(BRME1):c.1913G>A (p.Arg638Gln)	BRME1 (R182Q +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649402	NM_001345843.2(BRME1):c.1858C>T (p.Arg620Trp)	BRME1 (R164W +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3135089	NM_001345843.2(BRME1):c.1639G>A (p.Ala547Thr)	BRME1 (A547T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649403	NM_001345843.2(BRME1):c.1473C>A (p.Asp491Glu)	BRME1 (D373E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2649404	NM_001345843.2(BRME1):c.912G>A (p.Val304=)	BRME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3135092	NM_001345843.2(BRME1):c.576T>G (p.Asp192Glu)	BRME1 (D192E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135091	NM_001345843.2(BRME1):c.503A>G (p.Asp168Gly)	BRME1 (D168G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135090	NM_001345843.2(BRME1):c.196G>A (p.Ala66Thr)	BRME1 (A66T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649405	NM_001345843.2(BRME1):c.-184A>G	BRME1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 228325	NM_017721.5(CC2D1A):c.748+1G>T	BRME1, CC2D1A	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 3 +2 more	GPathogenic
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 253840	GRCh37/hg19 19p13.2-13.12(chr19:13802749-14003761)x3	MIR24-2, C19orf53 +8 more	Copy number gain	See cases	GUncertain significance

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: 26