ClinVar for MedGen (Select 480034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2999331	NM_012200.4(B3GAT3):c.123C>T (p.Ala41=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2998764	NM_012200.4(B3GAT3):c.480G>A (p.Gln160=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 2996858	NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs)	B3GAT3 (L93fs +1 more)	Deletion (frameshift variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2987879	NM_012200.4(B3GAT3):c.82+15G>T	B3GAT3	Single nucleotide variant (intron variant)	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 2982598	NM_012200.4(B3GAT3):c.82+10G>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2982597	NM_012200.4(B3GAT3):c.82+11del	B3GAT3	Deletion (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2978977	NM_012200.4(B3GAT3):c.11A>G (p.Lys4Arg)	B3GAT3 (K4R)	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2913540	NM_012200.4(B3GAT3):c.96C>T (p.Asp32=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2912221	NM_012200.4(B3GAT3):c.82+18G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2906193	NM_012200.4(B3GAT3):c.82+1G>A	B3GAT3	Single nucleotide variant (splice donor variant)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2901063	NM_012200.4(B3GAT3):c.24G>A (p.Val8=)	B3GAT3	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2890773	NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter)	B3GAT3 (E112* +1 more)	Single nucleotide variant (nonsense +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2889692	NM_012200.4(B3GAT3):c.512G>C (p.Arg171Thr)	B3GAT3 (R164T +1 more)	Single nucleotide variant (missense 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 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 2874482	NM_012200.4(B3GAT3):c.619-10C>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2855899	NM_012200.4(B3GAT3):c.60C>T (p.Leu20=)	B3GAT3	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2846425	NM_012200.4(B3GAT3):c.576T>C (p.Phe192=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2844231	NM_012200.4(B3GAT3):c.150del (p.Ile51fs)	B3GAT3 (I44fs +1 more)	Deletion (frameshift variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
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 2803825	NM_012200.4(B3GAT3):c.619-9C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2797326	NM_012200.4(B3GAT3):c.36C>A (p.Tyr12Ter)	B3GAT3 (Y12*)	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 2769506	NM_012200.4(B3GAT3):c.162G>T (p.Leu54=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2766062	NM_012200.4(B3GAT3):c.303C>T (p.Ser101=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 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 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 2736009	NM_012200.4(B3GAT3):c.300G>A (p.Leu100=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 2714181	NM_012200.4(B3GAT3):c.618+8C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 2420394	NM_012200.4(B3GAT3):c.357G>A (p.Pro119=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2197760	NM_012200.4(B3GAT3):c.474C>T (p.Val158=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 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 2187002	NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp)	B3GAT3 (R194W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2181971	NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr)	B3GAT3 (A107T +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2181330	NM_012200.4(B3GAT3):c.619-6dup	B3GAT3	Duplication (intron variant)	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 2176008	NM_012200.4(B3GAT3):c.619-5G>A	B3GAT3	Single nucleotide variant (intron variant)	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 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 2169218	NM_012200.4(B3GAT3):c.83-20T>C	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 2161933	NM_012200.4(B3GAT3):c.414C>G (p.Leu138=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 2154279	NM_012200.4(B3GAT3):c.83-11C>T	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2150114	NM_012200.4(B3GAT3):c.492C>T (p.Ala164=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2149208	NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala)	B3GAT3 (P61A +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GUncertain significance
Select item 2148000	NM_012200.4(B3GAT3):c.444C>T (p.Gly148=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2145277	NM_012200.4(B3GAT3):c.279G>A (p.Leu93=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2141532	NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp)	B3GAT3 (R105W +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2140203	NM_012200.4(B3GAT3):c.82+3G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2137125	NM_012200.4(B3GAT3):c.1A>G (p.Met1Val)	B3GAT3 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	Larsen-like syndrome, B3GAT3 type	GLikely pathogenic
Select item 2129240	NM_012200.4(B3GAT3):c.618+11G>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 2117409	NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	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 2083789	NM_012200.4(B3GAT3):c.390C>T (p.Leu130=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 2081130	NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser)	B3GAT3 (G166S +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2071395	NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu)	B3GAT3 (P117L +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
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 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 2059116	NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys)	B3GAT3 (R156C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2058942	NM_012200.4(B3GAT3):c.459T>C (p.Val153=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 2047202	NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly)	B3GAT3 (R60G +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2037445	NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro)	B3GAT3 (Q180P +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 2034446	NM_012200.4(B3GAT3):c.240T>C (p.Val80=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1998893	NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer)	B3GAT3	Duplication (nonsense +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 1995805	NM_012200.4(B3GAT3):c.135del (p.Gln46fs)	B3GAT3 (Q46fs +1 more)	Deletion (frameshift variant +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 1991628	NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter)	B3GAT3 (E202* +1 more)	Single nucleotide variant (nonsense +1 more)	Larsen-like syndrome, B3GAT3 type	GPathogenic
Select item 1991215	NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser)	B3GAT3 (G28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1983564	NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val)	B3GAT3 (I70V +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1982151	NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys)	B3GAT3	Microsatellite (5 prime UTR variant +3 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 1977829	NM_012200.4(B3GAT3):c.465C>T (p.Pro155=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 1953238	NM_012200.4(B3GAT3):c.237T>C (p.Val79=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
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 1940158	NM_012200.4(B3GAT3):c.63C>G (p.Leu21=)	B3GAT3	Single nucleotide variant (5 prime UTR variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1939512	NM_012200.4(B3GAT3):c.514G>A (p.Gly172Arg)	B3GAT3 (G165R +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1938181	NM_012200.4(B3GAT3):c.570C>T (p.Val190=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1903946	NM_012200.4(B3GAT3):c.211C>G (p.Pro71Ala)	B3GAT3 (P64A +1 more)	Single nucleotide variant (missense variant +1 more)	Larsen-like syndrome, B3GAT3 type	GUncertain significance
Select item 1899472	NM_012200.4(B3GAT3):c.74T>C (p.Val25Ala)	B3GAT3 (V25A)	Single nucleotide variant (5 prime UTR variant +1 more)	Larsen-like syndrome, B3GAT3 type	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 1710840	NM_012200.4(B3GAT3):c.134G>T (p.Arg45Leu)	B3GAT3 (R38L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1665402	NM_012200.4(B3GAT3):c.69G>T (p.Ala23=)	B3GAT3	Single nucleotide variant (non-coding transcript variant +2 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1650259	NM_012200.4(B3GAT3):c.257+20C>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 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 1610449	NM_012200.4(B3GAT3):c.243C>T (p.Thr81=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type	GLikely benign
Select item 1603122	NM_012200.4(B3GAT3):c.168G>A (p.Ala56=)	B3GAT3	Single nucleotide variant (synonymous variant +1 more)	Larsen-like syndrome, B3GAT3 type +1 more	GLikely benign
Select item 1598256	NM_012200.4(B3GAT3):c.486C>T (p.Asn162=)	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 1593921	NM_012200.4(B3GAT3):c.258-20G>A	B3GAT3	Single nucleotide variant (intron variant)	Larsen-like syndrome, B3GAT3 type	GLikely benign

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