BORCS6[gene] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060207, LOC130060208 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060232, LOC130060233 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 2683898	GRCh38/hg38 17p13.1(chr17:8171228-8185326)x1	BORCS6, LOC105371520 +7 more	Copy number loss	Leukoencephalopathy with calcifications and cysts	GLikely pathogenic
Select item 2482787	NM_017622.3(BORCS6):c.1015G>T (p.Ala339Ser)	BORCS6 (A339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261358	NM_017622.3(BORCS6):c.981G>T (p.Glu327Asp)	BORCS6 (E327D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548842	NM_017622.3(BORCS6):c.889A>G (p.Ile297Val)	BORCS6 (I297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525800	NM_017622.3(BORCS6):c.766A>C (p.Ile256Leu)	BORCS6 (I256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275755	NM_017622.3(BORCS6):c.766A>G (p.Ile256Val)	BORCS6 (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134782	NM_017622.3(BORCS6):c.764C>A (p.Pro255Gln)	BORCS6 (P255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261357	NM_017622.3(BORCS6):c.760C>G (p.Pro254Ala)	BORCS6 (P254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251684	NM_017622.3(BORCS6):c.731C>G (p.Ala244Gly)	BORCS6 (A244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255623	NM_017622.3(BORCS6):c.473C>T (p.Ser158Leu)	BORCS6 (S158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261356	NM_017622.3(BORCS6):c.444G>T (p.Glu148Asp)	BORCS6 (E148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275461	NM_017622.3(BORCS6):c.432C>G (p.Asp144Glu)	BORCS6 (D144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284522	NM_017622.3(BORCS6):c.430G>A (p.Asp144Asn)	BORCS6 (D144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493561	NM_017622.3(BORCS6):c.403A>G (p.Met135Val)	BORCS6 (M135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293142	NM_017622.3(BORCS6):c.385G>A (p.Gly129Arg)	BORCS6 (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261355	NM_017622.3(BORCS6):c.344C>T (p.Pro115Leu)	BORCS6 (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134779	NM_017622.3(BORCS6):c.341C>A (p.Ala114Glu)	BORCS6 (A114E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 974701	NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro)	BORCS6 (R109P)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 2313462	NM_017622.3(BORCS6):c.325C>T (p.Arg109Trp)	BORCS6 (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458204	NM_017622.3(BORCS6):c.309A>C (p.Glu103Asp)	BORCS6 (E103D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3261359	NM_017622.3(BORCS6):c.302A>T (p.Glu101Val)	BORCS6 (E101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263123	NM_017622.3(BORCS6):c.243G>T (p.Glu81Asp)	BORCS6 (E81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247770	NM_017622.3(BORCS6):c.150C>G (p.Asn50Lys)	BORCS6 (N50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134778	NM_017622.3(BORCS6):c.130G>T (p.Gly44Trp)	BORCS6 (G44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134777	NM_017622.3(BORCS6):c.122G>A (p.Arg41Gln)	BORCS6 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134781	NM_017622.3(BORCS6):c.61C>G (p.Gln21Glu)	BORCS6 (Q21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134780	NM_017622.3(BORCS6):c.55G>A (p.Glu19Lys)	BORCS6 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX12B, ALOX15B +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	CHD3, CNTROB +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815902	GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3	BORCS6, AURKB +18 more	Copy number gain	not provided	GUncertain significance
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 221530	GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3	ALOXE3, AURKB +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221394	GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3	ALOXE3, AURKB +11 more	Copy number gain	Breast ductal adenocarcinoma	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: 56