B3GNT8[gene] - ClinVar

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Items: 75

	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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1279905	NM_001385648.2(B3GNT8):c.35_36insCCGGCCCTGGCC	B3GNT8	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1221358	NM_001385648.2(B3GNT8):c.*7T>C	B3GNT8	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2406011	NM_001385648.2(B3GNT8):c.1181G>A (p.Arg394Lys)	B3GNT8 (R394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473571	NM_001385648.2(B3GNT8):c.1166A>G (p.Gln389Arg)	B3GNT8 (Q389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340123	NM_001385648.2(B3GNT8):c.1166A>C (p.Gln389Pro)	B3GNT8 (Q389P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472362	NM_001385648.2(B3GNT8):c.1153C>T (p.Arg385Trp)	B3GNT8 (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357439	NM_001385648.2(B3GNT8):c.1127G>A (p.Arg376Gln)	B3GNT8 (R376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132610	NM_001385648.2(B3GNT8):c.1117C>A (p.Leu373Met)	B3GNT8 (L373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472321	NM_001385648.2(B3GNT8):c.1109G>A (p.Arg370His)	B3GNT8 (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132609	NM_001385648.2(B3GNT8):c.1084C>T (p.Arg362Cys)	B3GNT8 (R362C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455832	NM_001385648.2(B3GNT8):c.1079C>A (p.Ala360Glu)	B3GNT8 (A360E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132608	NM_001385648.2(B3GNT8):c.1063C>T (p.Leu355Phe)	B3GNT8 (L355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241376	NM_001385648.2(B3GNT8):c.1043C>T (p.Pro348Leu)	B3GNT8 (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132607	NM_001385648.2(B3GNT8):c.1042C>T (p.Pro348Ser)	B3GNT8 (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132619	NM_001385648.2(B3GNT8):c.988T>C (p.Phe330Leu)	B3GNT8 (F330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389793	NM_001385648.2(B3GNT8):c.977G>A (p.Arg326His)	B3GNT8 (R326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395460	NM_001385648.2(B3GNT8):c.976C>T (p.Arg326Cys)	B3GNT8 (R326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351906	NM_001385648.2(B3GNT8):c.964C>T (p.Arg322Trp)	B3GNT8 (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524366	NM_001385648.2(B3GNT8):c.943C>T (p.Arg315Cys)	B3GNT8 (R315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132618	NM_001385648.2(B3GNT8):c.940G>A (p.Gly314Arg)	B3GNT8 (G314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717968	NM_001385648.2(B3GNT8):c.930C>T (p.Tyr310=)	B3GNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3472384	NM_001385648.2(B3GNT8):c.872A>G (p.Tyr291Cys)	B3GNT8 (Y291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472392	NM_001385648.2(B3GNT8):c.839C>T (p.Ala280Val)	B3GNT8 (A280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218938	NM_001385648.2(B3GNT8):c.833C>T (p.Thr278Ile)	B3GNT8 (T278I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258991	NM_001385648.2(B3GNT8):c.806G>A (p.Arg269Gln)	B3GNT8 (R269Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3472341	NM_001385648.2(B3GNT8):c.782G>A (p.Arg261Gln)	B3GNT8 (R261Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242473	NM_001385648.2(B3GNT8):c.781C>T (p.Arg261Trp)	B3GNT8 (R261W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361260	NM_001385648.2(B3GNT8):c.731G>A (p.Arg244Gln)	B3GNT8 (R244Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547100	NM_001385648.2(B3GNT8):c.728T>C (p.Leu243Ser)	B3GNT8 (L243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560829	NM_001385648.2(B3GNT8):c.724G>C (p.Val242Leu)	B3GNT8 (V242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282977	NM_001385648.2(B3GNT8):c.691T>C (p.Trp231Arg)	B3GNT8 (W231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472330	NM_001385648.2(B3GNT8):c.655T>C (p.Phe219Leu)	B3GNT8 (F219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229754	NM_001385648.2(B3GNT8):c.621T>C (p.Ser207=)	B3GNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1278537	NM_001385648.2(B3GNT8):c.600C>A (p.Ala200=)	B3GNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1248115	NM_001385648.2(B3GNT8):c.564G>A (p.Val188=)	B3GNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3259023	NM_001385648.2(B3GNT8):c.530G>A (p.Gly177Glu)	B3GNT8 (G177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472373	NM_001385648.2(B3GNT8):c.491G>A (p.Arg164Gln)	B3GNT8 (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472300	NM_001385648.2(B3GNT8):c.479G>A (p.Arg160His)	B3GNT8 (R160H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259001	NM_001385648.2(B3GNT8):c.476G>A (p.Gly159Glu)	B3GNT8 (G159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259012	NM_001385648.2(B3GNT8):c.431A>T (p.Asp144Val)	B3GNT8 (D144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1182381	NM_001385648.2(B3GNT8):c.409A>G (p.Ser137Gly)	B3GNT8 (S137G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1234796	NM_001385648.2(B3GNT8):c.393G>A (p.Leu131=)	B3GNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132617	NM_001385648.2(B3GNT8):c.373C>T (p.Arg125Trp)	B3GNT8 (R125W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132616	NM_001385648.2(B3GNT8):c.371G>T (p.Cys124Phe)	B3GNT8 (C124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456848	NM_001385648.2(B3GNT8):c.350G>A (p.Arg117His)	B3GNT8 (R117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132615	NM_001385648.2(B3GNT8):c.349C>A (p.Arg117Ser)	B3GNT8 (R117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286217	NM_001385648.2(B3GNT8):c.334C>T (p.Pro112Ser)	B3GNT8 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537586	NM_001385648.2(B3GNT8):c.312G>T (p.Glu104Asp)	B3GNT8 (E104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3472310	NM_001385648.2(B3GNT8):c.298G>A (p.Ala100Thr)	B3GNT8 (A100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603081	NM_001385648.2(B3GNT8):c.278G>A (p.Gly93Asp)	B3GNT8 (G93D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132613	NM_001385648.2(B3GNT8):c.272C>T (p.Thr91Met)	B3GNT8 (T91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132612	NM_001385648.2(B3GNT8):c.255T>G (p.Ser85Arg)	B3GNT8 (S85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336286	NM_001385648.2(B3GNT8):c.254G>A (p.Ser85Asn)	B3GNT8 (S85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569195	NM_001385648.2(B3GNT8):c.236G>A (p.Arg79Gln)	B3GNT8 (R79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132611	NM_001385648.2(B3GNT8):c.210T>G (p.Phe70Leu)	B3GNT8 (F70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272943	NM_001385648.2(B3GNT8):c.209T>G (p.Phe70Cys)	B3GNT8 (F70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258982	NM_001385648.2(B3GNT8):c.182G>A (p.Arg61His)	B3GNT8 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515214	NM_001385648.2(B3GNT8):c.163C>T (p.Pro55Ser)	B3GNT8 (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227717	NM_001385648.2(B3GNT8):c.132C>A (p.Ser44Arg)	B3GNT8 (S44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276926	NM_001385648.2(B3GNT8):c.107C>T (p.Pro36Leu)	B3GNT8 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258971	NM_001385648.2(B3GNT8):c.89G>T (p.Arg30Leu)	B3GNT8 (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346555	NM_001385648.2(B3GNT8):c.82G>A (p.Glu28Lys)	B3GNT8 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267026	NM_001385648.2(B3GNT8):c.72G>A (p.Glu24=)	B3GNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523042	NM_001385648.2(B3GNT8):c.25T>A (p.Cys9Ser)	B3GNT8 (C9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270499	NM_001385648.2(B3GNT8):c.-32-43A>G	B3GNT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286788	NM_001385648.2(B3GNT8):c.-32-113C>T	B3GNT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239814	NM_001385648.2(B3GNT8):c.-33+226G>A	B3GNT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3248403	NC_000019.9:g.(?_41916522)_(41932683_?)del	B3GNT8, BCKDHA	Deletion	Maple syrup urine disease	GPathogenic
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	GUncertain significance
Select item 816083	GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3	B3GNT8, BCKDHA +10 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	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

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Items: 75