B3GAT3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 195064	NM_000327.4(ROM1):c.686G>A (p.Arg229His)	B3GAT3, ROM1 (R229H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1698027	NM_012200.4(B3GAT3):c.*10del	B3GAT3	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1213563	NM_012200.4(B3GAT3):c.*5G>A	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2092412	NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly)	B3GAT3	Single nucleotide variant (stop lost +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1406733	NM_012200.4(B3GAT3):c.1000G>A (p.Glu334Lys)	B3GAT3 (E327K +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1401747	NM_012200.4(B3GAT3):c.998T>C (p.Ile333Thr)	B3GAT3 (I326T +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 936655	NM_012200.4(B3GAT3):c.992del (p.Pro331fs)	B3GAT3 (P324fs +1 more)	Deletion (frameshift variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2578426	NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter)	B3GAT3 (S322* +1 more)	Single nucleotide variant (nonsense +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2749088	NM_012200.4(B3GAT3):c.985T>C (p.Ser329Pro)	B3GAT3 (S322P +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2997585	NM_012200.4(B3GAT3):c.981G>A (p.Arg327=)	B3GAT3	Single nucleotide variant (synonymous variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1029180	NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln)	B3GAT3 (R320Q +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type +1 more	GUncertain significance
Select item 1614499	NM_012200.4(B3GAT3):c.979C>A (p.Arg327=)	B3GAT3	Single nucleotide variant (synonymous variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1191405	NM_012200.4(B3GAT3):c.979C>T (p.Arg327Trp)	B3GAT3 (R320W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1435237	NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln)	B3GAT3 (R317Q +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1981581	NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp)	B3GAT3 (R317W +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1377144	NM_012200.4(B3GAT3):c.968A>T (p.Gln323Leu)	B3GAT3 (Q323L +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 567412	NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln)	B3GAT3 (E319Q +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1498648	NM_012200.4(B3GAT3):c.952C>T (p.Gln318Ter)	B3GAT3 (Q311* +1 more)	Single nucleotide variant (nonsense +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1976374	NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg)	B3GAT3 (M309R +1 more)	Single nucleotide variant (missense variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 774896	NM_012200.4(B3GAT3):c.930G>A (p.Arg310=)	B3GAT3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2576750	NM_012200.4(B3GAT3):c.929G>C (p.Arg310Pro)	B3GAT3 (R303P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1254863	NM_012200.4(B3GAT3):c.929G>A (p.Arg310Gln)	B3GAT3 (R303Q +1 more)	Single nucleotide variant (missense variant +2 more)	See cases +1 more	GUncertain significance
Select item 1350154	NM_012200.4(B3GAT3):c.910-3C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2887847	NM_012200.4(B3GAT3):c.910-6G>A	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1407344	NM_012200.4(B3GAT3):c.910-7G>A	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2888062	NM_012200.4(B3GAT3):c.910-9C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2178844	NM_012200.4(B3GAT3):c.910-10C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2987493	NM_012200.4(B3GAT3):c.910-13C>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2740066	NM_012200.4(B3GAT3):c.910-16A>T	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1296623	NM_012200.4(B3GAT3):c.910-191G>A	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1262475	NM_012200.4(B3GAT3):c.910-222T>G	B3GAT3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1174878	NM_012200.4(B3GAT3):c.909+270_909+271del	B3GAT3 (E305fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1271125	NM_012200.4(B3GAT3):c.909+263_909+264insG	B3GAT3	Insertion (intron variant)	not provided	GBenign
Select item 1237984	NM_012200.4(B3GAT3):c.909+263C>T	B3GAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 802680	NM_012200.4(B3GAT3):c.909+263C>G	B3GAT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 522222	NM_012200.4(B3GAT3):c.909+263del	B3GAT3	Deletion (intron variant)	Larsen-like syndrome, B3GAT3 type +1 more	GBenign
Select item 1273108	NM_012200.4(B3GAT3):c.909+262T>G	B3GAT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175007	NM_012200.4(B3GAT3):c.909+262del	B3GAT3	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1375379	NM_012200.4(B3GAT3):c.909+20C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1381440	NM_012200.4(B3GAT3):c.909G>T (p.Arg303=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2188569	NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln)	B3GAT3 (R296Q +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2158092	NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp)	B3GAT3 (R296W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 729929	NM_012200.4(B3GAT3):c.906T>G (p.Thr302=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 978467	NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp)	B3GAT3 (R290W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2052588	NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn)	B3GAT3 (K285N +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2196670	NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr)	B3GAT3 (P284T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1396824	NM_012200.4(B3GAT3):c.866T>C (p.Val289Ala)	B3GAT3 (V289A +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 728377	NM_012200.4(B3GAT3):c.846C>T (p.Ser282=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1329707	NM_012200.4(B3GAT3):c.838C>T (p.Leu280=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1298513	NM_012200.4(B3GAT3):c.837C>A (p.His279Gln)	B3GAT3 (H272Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30573	NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)	B3GAT3 (R277Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2761927	NM_012200.4(B3GAT3):c.829C>T (p.Arg277Trp)	B3GAT3 (R270W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1949400	NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr)	B3GAT3 (A268T +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1538651	NM_012200.4(B3GAT3):c.822C>T (p.Thr274=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 544155	NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)	B3GAT3 (T274N +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GBenign
Select item 2722487	NM_012200.4(B3GAT3):c.819C>T (p.Ser273=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1595059	NM_012200.4(B3GAT3):c.810A>G (p.Gln270=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1313414	NM_012200.4(B3GAT3):c.806C>T (p.Ala269Val)	B3GAT3 (A262V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1810166	NM_012200.4(B3GAT3):c.803A>G (p.Asn268Ser)	B3GAT3 (N261S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1713979	NM_012200.4(B3GAT3):c.778C>G (p.Leu260Val)	B3GAT3 (L253V +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1186496	NM_012200.4(B3GAT3):c.772G>A (p.Val258Met)	B3GAT3 (V251M +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GLikely benign
Select item 1542485	NM_012200.4(B3GAT3):c.771C>T (p.Ala257=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2171571	NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu)	B3GAT3 (P248L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1319796	NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg)	B3GAT3 (P241R +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GUncertain significance
Select item 717447	NM_012200.4(B3GAT3):c.741G>A (p.Arg247=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1468856	NM_012200.4(B3GAT3):c.738C>T (p.Ser246=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2811020	NM_012200.4(B3GAT3):c.735C>T (p.Pro245=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2067186	NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val)	B3GAT3 (A242V +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1489718	NM_012200.4(B3GAT3):c.716T>A (p.Phe239Tyr)	B3GAT3 (F239Y +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 784708	NM_012200.4(B3GAT3):c.709G>A (p.Val237Met)	B3GAT3 (V230M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1197663	NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu)	B3GAT3 (V229E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 854700	NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln)	B3GAT3 (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2162386	NM_012200.4(B3GAT3):c.699C>T (p.Asp233=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2059139	NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu)	B3GAT3 (Q232E +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1508624	NM_012200.4(B3GAT3):c.685C>T (p.Pro229Ser)	B3GAT3 (P222S +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1531442	NM_012200.4(B3GAT3):c.684C>T (p.Gly228=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2171307	NM_012200.4(B3GAT3):c.681G>A (p.Glu227=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1530541	NM_012200.4(B3GAT3):c.678C>T (p.Phe226=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 620480	NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter)	B3GAT3 (R225* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GPathogenic/Likely pathogenic
Select item 1204070	NM_012200.4(B3GAT3):c.671T>A (p.Leu224Gln)	B3GAT3 (L217Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 225924	NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser)	B3GAT3 (G223S +1 more)	Single nucleotide variant (missense variant +1 more)	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS	GPathogenic
Select item 1672398	NM_012200.4(B3GAT3):c.666C>T (p.Gly222=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1052117	NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del)	B3GAT3	Deletion (inframe_deletion +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2387006	NM_012200.4(B3GAT3):c.653T>G (p.Val218Gly)	B3GAT3 (V218G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1374989	NM_012200.4(B3GAT3):c.632G>A (p.Arg211His)	B3GAT3 (R204H +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1503077	NM_012200.4(B3GAT3):c.619-1G>A	B3GAT3	Single nucleotide variant (splice acceptor variant)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2181330	NM_012200.4(B3GAT3):c.619-6dup	B3GAT3	Duplication (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2176008	NM_012200.4(B3GAT3):c.619-5G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1094395	NM_012200.4(B3GAT3):c.619-6C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2803825	NM_012200.4(B3GAT3):c.619-9C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2874482	NM_012200.4(B3GAT3):c.619-10C>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1587132	NM_012200.4(B3GAT3):c.619-10C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1553109	NM_012200.4(B3GAT3):c.619-11A>G	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1625322	NM_012200.4(B3GAT3):c.619-12G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2126550	NM_012200.4(B3GAT3):c.619-19C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1576398	NM_012200.4(B3GAT3):c.618+16G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign

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