B3galt6 Variant Search Result - Rat Genome Database

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362 records found for search term B3galt6

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150534379	CV1301947	single nucleotide variant	NM_080605.4(B3GALT6):c.-5G>A	not provided [RCV001757164]	uncertain significance	1	1232274	1232274	Human		name
405259363	CV3194723	single nucleotide variant	NM_080605.4(B3GALT6):c.*5C>G	B3GALT6-related disorder [RCV003894114]	likely benign	1	1233273	1233273	Human		name , trait , alternate_id
12841869	CV364446	single nucleotide variant	NM_080605.4(B3GALT6):c.-23G>A	not provided [RCV004711087]\|not specified [RCV000433352]	likely benign	1	1232256	1232256	Human		name
598122671	CV3884603	single nucleotide variant	NM_080605.4(B3GALT6):c.-11G>A	not specified [RCV005237295]	uncertain significance	1	1232268	1232268	Human		name
13539921	CV498017	single nucleotide variant	NM_080605.4(B3GALT6):c.-38G>A	not specified [RCV000613949]	likely benign	1	1232241	1232241	Human		name
150435395	CV1244403	single nucleotide variant	NM_080605.4(B3GALT6):c.7C>T (p.Leu3=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002539610]\|not provided [RCV001665394]	likely benign	1	1232285	1232285	Human	1	name
127233044	CV1087930	single nucleotide variant	NM_080605.4(B3GALT6):c.16C>A (p.Arg6=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001421573]	likely benign	1	1232294	1232294	Human	1	name
13529769	CV498061	single nucleotide variant	NM_080605.4(B3GALT6):c.12G>A (p.Leu4=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003767764]\|not provided [RCV001707845]	likely benign	1	1232290	1232290	Human	1	name
15105884	CV761151	single nucleotide variant	NM_080605.4(B3GALT6):c.10C>T (p.Leu4=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002545894]	likely benign	1	1232288	1232288	Human	1	name
127252872	CV1054735	single nucleotide variant	NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001378837]	likely pathogenic	1	1232280	1232280	Human	1	name
150418377	CV1192699	single nucleotide variant	NM_080605.4(B3GALT6):c.81C>A (p.Leu27=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002072192]\|not provided [RCV001569190]	likely benign	1	1232359	1232359	Human	1	name
151758594	CV1438938	single nucleotide variant	NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002007594]\|not provided [RCV004797977]	pathogenic\|likely pathogenic	1	1232280	1232280	Human	1	name
152037422	CV1529595	single nucleotide variant	NM_080605.4(B3GALT6):c.90G>A (p.Ala30=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002187741]	likely benign	1	1232368	1232368	Human	1	name
155965010	CV1882027	single nucleotide variant	NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003074887]	pathogenic	1	1232281	1232281	Human	1	name
156014447	CV2123130	single nucleotide variant	NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002975825]	likely benign	1	1232374	1232374	Human	1	name
401878840	CV2754845	single nucleotide variant	NM_080605.4(B3GALT6):c.7C>G (p.Leu3Val)	Inborn genetic diseases [RCV003349196]	uncertain significance	1	1232285	1232285	Human	1	name
405162139	CV3109921	single nucleotide variant	NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003802280]	likely benign	1	1232333	1232333	Human	1	name
405273335	CV3197709	single nucleotide variant	NM_080605.4(B3GALT6):c.75G>A (p.Ala25=)	B3GALT6-related disorder [RCV003901676]	likely benign	1	1232353	1232353	Human		name , trait , alternate_id
597628526	CV3409276	single nucleotide variant	NM_080605.4(B3GALT6):c.1A>C (p.Met1Leu)	Al-Gazali syndrome [RCV004821343]	pathogenic	1	1232279	1232279	Human	1	name
12846279	CV364403	single nucleotide variant	NM_080605.4(B3GALT6):c.46C>T (p.Leu16=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002060060]\|not specified [RCV000441345]	likely benign	1	1232324	1232324	Human	1	name
597856131	CV3870721	single nucleotide variant	NM_080605.4(B3GALT6):c.30G>C (p.Arg10=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005228922]	uncertain significance	1	1232308	1232308	Human	1	name
13541541	CV498033	single nucleotide variant	NM_080605.4(B3GALT6):c.54G>C (p.Thr18=)	not specified [RCV000616303]	likely benign	1	1232332	1232332	Human		name
15188793	CV731648	single nucleotide variant	NM_080605.4(B3GALT6):c.48G>A (p.Leu16=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002540792]	likely benign	1	1232326	1232326	Human	1	name
8594780	CV75079	single nucleotide variant	NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	B3GALT6-related disorder [RCV003944971]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001853073]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005252720]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV ... (more) 000054390]\|not provided [RCV001560169]	pathogenic\|likely pathogenic	1	1232279	1232279	Human	3	name , trait , alternate_id
127332705	CV1109442	single nucleotide variant	NM_080605.4(B3GALT6):c.102C>G (p.Ala34=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001472412]	likely benign	1	1232380	1232380	Human	1	name
151756889	CV1508941	single nucleotide variant	NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002023939]	uncertain significance	1	1232291	1232291	Human	1	name
152067531	CV1529355	single nucleotide variant	NM_080605.4(B3GALT6):c.210C>A (p.Ala70=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002168867]	likely benign	1	1232488	1232488	Human	1	name
152152197	CV1598447	single nucleotide variant	NM_080605.4(B3GALT6):c.171C>T (p.Ala57=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002121912]	likely benign	1	1232449	1232449	Human	1	name
152090319	CV1624341	single nucleotide variant	NM_080605.4(B3GALT6):c.147C>A (p.Pro49=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002150506]	likely benign	1	1232425	1232425	Human	1	name
152126004	CV1646285	single nucleotide variant	NM_080605.4(B3GALT6):c.291C>T (p.Gly97=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002217415]	likely benign	1	1232569	1232569	Human	1	name
152057109	CV1647367	single nucleotide variant	NM_080605.4(B3GALT6):c.252C>T (p.Arg84=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002208227]	likely benign	1	1232530	1232530	Human	1	name
152146575	CV1649573	single nucleotide variant	NM_080605.4(B3GALT6):c.255G>T (p.Gly85=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002121140]	likely benign	1	1232533	1232533	Human	1	name
156389936	CV1872548	single nucleotide variant	NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003051204]	likely benign	1	1232539	1232539	Human	1	name
10049588	CV190642	single nucleotide variant	NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000651598]\|not provided [RCV004710564]\|not specified [RCV000173550]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	1232416	1232416	Human	1	name
10049589	CV190643	single nucleotide variant	NM_080605.4(B3GALT6):c.22T>G (p.Trp8Gly)	not provided [RCV000173551]	uncertain significance	1	1232300	1232300	Human		name
156314493	CV1966714	single nucleotide variant	NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002578875]	likely benign	1	1232491	1232491	Human	1	name
156386279	CV1979780	single nucleotide variant	NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002604316]	likely benign	1	1232563	1232563	Human	1	name
156224126	CV2009345	single nucleotide variant	NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002701118]	uncertain significance	1	1232288	1232288	Human	1	name
156127581	CV2046981	single nucleotide variant	NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002800484]	likely benign	1	1232407	1232407	Human	1	name
155962609	CV2140716	single nucleotide variant	NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003015544]	uncertain significance	1	1232304	1232304	Human	1	name
155994328	CV2147829	single nucleotide variant	NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003016978]	likely benign	1	1232563	1232563	Human	1	name
156002695	CV2179200	single nucleotide variant	NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003034851]	likely benign	1	1232476	1232476	Human	1	name
11642797	CV273028	single nucleotide variant	NM_080605.4(B3GALT6):c.180A>G (p.Ala60=)	not provided [RCV000380808]	uncertain significance	1	1232458	1232458	Human		name
405007461	CV3082925	single nucleotide variant	NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784026]	likely benign	1	1232530	1232530	Human	1	name
402520724	CV3091957	single nucleotide variant	NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003790403]	likely benign	1	1232539	1232539	Human	1	name
405033156	CV3095412	single nucleotide variant	NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003796618]	likely benign	1	1232434	1232434	Human	1	name
405062506	CV3102946	single nucleotide variant	NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798937]	likely benign	1	1232419	1232419	Human	1	name
405853855	CV3393704	single nucleotide variant	NM_080605.4(B3GALT6):c.144T>G (p.Pro48=)	not provided [RCV004546930]	likely benign	1	1232422	1232422	Human		name
597835910	CV3874306	single nucleotide variant	NM_080605.4(B3GALT6):c.168C>T (p.Ala56=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005210226]	uncertain significance	1	1232446	1232446	Human	1	name
12912946	CV421163	single nucleotide variant	NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	Al-Gazali syndrome [RCV002475976]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001034688]\|Inborn genetic diseases [RCV002527086]\|not provided [RCV000493202]\|not specified [RCV005407154]	uncertain significance	1	1232295	1232295	Human	3	name
13537754	CV498040	single nucleotide variant	NM_080605.4(B3GALT6):c.165C>T (p.Ala55=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005223058]\|not specified [RCV000610843]	likely benign\|uncertain significance	1	1232443	1232443	Human	1	name
15175423	CV718160	single nucleotide variant	NM_080605.4(B3GALT6):c.285C>G (p.Ala95=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001393999]	likely benign	1	1232563	1232563	Human	1	name
15185203	CV731649	single nucleotide variant	NM_080605.4(B3GALT6):c.234C>T (p.Ser78=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003768797]	likely benign	1	1232512	1232512	Human	1	name
15144476	CV745630	single nucleotide variant	NM_080605.4(B3GALT6):c.150C>A (p.Pro50=)	not provided [RCV000922374]	likely benign	1	1232428	1232428	Human		name
15122933	CV745631	single nucleotide variant	NM_080605.4(B3GALT6):c.175C>T (p.Leu59=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001858578]\|not provided [RCV000918734]	likely benign	1	1232453	1232453	Human	1	name
15110088	CV745632	single nucleotide variant	NM_080605.4(B3GALT6):c.189G>A (p.Val63=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002542142]	likely benign	1	1232467	1232467	Human	1	name
8621280	CV75088	single nucleotide variant	NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054399]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002513708]	pathogenic\|uncertain significance	1	1232294	1232294	Human	1	name
127242985	CV1087931	single nucleotide variant	NM_080605.4(B3GALT6):c.768G>A (p.Arg256=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001423856]	likely benign	1	1233046	1233046	Human	1	name
127295798	CV1130324	single nucleotide variant	NM_080605.4(B3GALT6):c.384C>G (p.Ala128=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001497341]	likely benign	1	1232662	1232662	Human	1	name
150429117	CV1186046	single nucleotide variant	NM_080605.4(B3GALT6):c.750G>A (p.Ala250=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002072141]\|not provided [RCV001563179]	likely benign	1	1233028	1233028	Human	1	name
150404723	CV1192701	single nucleotide variant	NM_080605.4(B3GALT6):c.354C>T (p.Asp118=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003771740]\|not provided [RCV001571312]	likely benign	1	1232632	1232632	Human	1	name
150542675	CV1302671	single nucleotide variant	NM_080605.4(B3GALT6):c.651C>G (p.Gly217=)	not provided [RCV001761361]	uncertain significance	1	1232929	1232929	Human		name
151881861	CV1413906	single nucleotide variant	NM_080605.4(B3GALT6):c.552C>T (p.Gly184=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002020299]\|not provided [RCV002511126]	likely benign	1	1232830	1232830	Human	1	name
151868654	CV1444783	single nucleotide variant	NM_080605.4(B3GALT6):c.324C>A (p.Ala108=)	B3GALT6-related disorder [RCV003893013]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001939494]\|not specified [RCV005238111]	likely benign	1	1232602	1232602	Human	2	name , trait , alternate_id
151741810	CV1494895	duplication	NM_080605.4(B3GALT6):c.150dup (p.Ala51fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001968214]	uncertain significance	1	1232422	1232423	Human	1	name
151817284	CV1511426	single nucleotide variant	NM_080605.4(B3GALT6):c.628C>T (p.Leu210=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001954404]	likely benign	1	1232906	1232906	Human	1	name
152038702	CV1524219	single nucleotide variant	NM_080605.4(B3GALT6):c.762C>A (p.Val254=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002125758]	likely benign	1	1233040	1233040	Human	1	name
152175543	CV1526880	single nucleotide variant	NM_080605.4(B3GALT6):c.783C>T (p.Arg261=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002163678]	likely benign	1	1233061	1233061	Human	1	name
152141501	CV1532930	single nucleotide variant	NM_080605.4(B3GALT6):c.828G>C (p.Leu276=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002156831]	likely benign	1	1233106	1233106	Human	1	name
152082787	CV1548501	single nucleotide variant	NM_080605.4(B3GALT6):c.585G>A (p.Gly195=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002076592]	likely benign	1	1232863	1232863	Human	1	name
152145940	CV1549425	single nucleotide variant	NM_080605.4(B3GALT6):c.859C>T (p.Leu287=)	B3GALT6-related disorder [RCV003971003]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002101470]	likely benign	1	1233137	1233137	Human	2	name , trait , alternate_id
152170847	CV1552409	single nucleotide variant	NM_080605.4(B3GALT6):c.957G>T (p.Ser319=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002143254]	likely benign	1	1233235	1233235	Human	1	name
152109067	CV1556420	single nucleotide variant	NM_080605.4(B3GALT6):c.576C>G (p.Val192=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002096593]	likely benign	1	1232854	1232854	Human	1	name
152078802	CV1564914	single nucleotide variant	NM_080605.4(B3GALT6):c.576C>T (p.Val192=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002192768]	likely benign	1	1232854	1232854	Human	1	name
152100767	CV1568314	single nucleotide variant	NM_080605.4(B3GALT6):c.393C>T (p.Asn131=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002115309]	likely benign	1	1232671	1232671	Human	1	name
152086436	CV1578105	single nucleotide variant	NM_080605.4(B3GALT6):c.951G>A (p.Pro317=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002171230]	likely benign	1	1233229	1233229	Human	1	name
152157433	CV1586188	single nucleotide variant	NM_080605.4(B3GALT6):c.489G>A (p.Leu163=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002140338]	likely benign	1	1232767	1232767	Human	1	name
152067413	CV1600153	single nucleotide variant	NM_080605.4(B3GALT6):c.459C>T (p.Leu153=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002110974]	likely benign	1	1232737	1232737	Human	1	name
152107436	CV1605273	single nucleotide variant	NM_080605.4(B3GALT6):c.651C>T (p.Gly217=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002196337]	likely benign	1	1232929	1232929	Human	1	name
152055382	CV1610128	single nucleotide variant	NM_080605.4(B3GALT6):c.345G>A (p.Arg115=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002167366]	likely benign	1	1232623	1232623	Human	1	name
152063935	CV1612175	single nucleotide variant	NM_080605.4(B3GALT6):c.703C>T (p.Leu235=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002128702]	likely benign	1	1232981	1232981	Human	1	name
152098341	CV1616501	single nucleotide variant	NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002132931]	likely benign	1	1232665	1232665	Human	1	name
152145921	CV1631304	single nucleotide variant	NM_080605.4(B3GALT6):c.414C>T (p.Ala138=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002157426]	likely benign	1	1232692	1232692	Human	1	name
155734515	CV1781157	single nucleotide variant	NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003775024]\|not provided [RCV002308946]	uncertain significance	1	1232327	1232327	Human	1	name
155802891	CV1857834	single nucleotide variant	NM_080605.4(B3GALT6):c.43G>A (p.Gly15Ser)	not provided [RCV002461684]	uncertain significance	1	1232321	1232321	Human		name
156212923	CV1902574	single nucleotide variant	NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)	B3GALT6-related disorder [RCV003936547]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003084672]	likely benign	1	1232980	1232980	Human	2	name , trait , alternate_id
10049587	CV190641	single nucleotide variant	NM_080605.4(B3GALT6):c.909G>A (p.Glu303=)	B3GALT6-related disorder [RCV004754331]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001520488]\|not provided [RCV000887201]\|not specified [RCV000173549]	benign\|likely benign	1	1233187	1233187	Human	2	name , trait , alternate_id
155960142	CV1912056	single nucleotide variant	NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002616691]	likely benign	1	1232965	1232965	Human	1	name
155936649	CV1917052	single nucleotide variant	NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002615352]	likely benign	1	1232899	1232899	Human	1	name
156440377	CV1943430	single nucleotide variant	NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003110409]	likely benign	1	1232824	1232824	Human	1	name
156165437	CV1959830	single nucleotide variant	NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002573652]	uncertain significance	1	1232349	1232349	Human	1	name
156338461	CV1964090	single nucleotide variant	NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002580373]	likely benign	1	1232948	1232948	Human	1	name
156313261	CV1969950	single nucleotide variant	NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002578811]	likely benign	1	1232635	1232635	Human	1	name
156075223	CV1979145	single nucleotide variant	NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002621368]	likely benign	1	1233196	1233196	Human	1	name
155993971	CV1990660	single nucleotide variant	NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002618147]	likely benign	1	1233125	1233125	Human	1	name
156118165	CV1994088	single nucleotide variant	NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002662747]	likely benign	1	1232851	1232851	Human	1	name
156037121	CV2002698	single nucleotide variant	NM_080605.4(B3GALT6):c.456G>C (p.Val152=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002658891]	likely benign	1	1232734	1232734	Human	1	name
156098160	CV2004766	single nucleotide variant	NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002639477]	uncertain significance	1	1232357	1232357	Human	1	name
156125533	CV2012369	single nucleotide variant	NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002696205]	uncertain significance	1	1232348	1232348	Human	1	name
156315291	CV2017947	single nucleotide variant	NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002671867]	likely benign	1	1233181	1233181	Human	1	name
156239083	CV2028022	single nucleotide variant	NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002745598]	likely benign	1	1232782	1232782	Human	1	name
156026861	CV2048443	single nucleotide variant	NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002795852]	likely benign	1	1232644	1232644	Human	1	name
156331151	CV2061349	single nucleotide variant	NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002810686]	uncertain significance	1	1232698	1232698	Human	1	name
156337498	CV2095973	single nucleotide variant	NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002900288]	likely benign	1	1232737	1232737	Human	1	name
156277542	CV2137344	single nucleotide variant	NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003009482]	uncertain significance	1	1232316	1232316	Human	1	name
156317831	CV2140474	single nucleotide variant	NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003011500]	likely benign	1	1232960	1232960	Human	1	name
155978254	CV2157060	single nucleotide variant	NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003016252]	likely benign	1	1232609	1232609	Human	1	name
156197680	CV2306818	single nucleotide variant	NM_080605.4(B3GALT6):c.28C>T (p.Arg10Trp)	Inborn genetic diseases [RCV002892938]	uncertain significance	1	1232306	1232306	Human	1	name
11636387	CV267606	single nucleotide variant	NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)	B3GALT6-related disorder [RCV003920063]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001085553]\|not provided [RCV000725260]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	1233031	1233031	Human	2	name , trait , alternate_id
11643269	CV267826	single nucleotide variant	NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)	B3GALT6-related disorder [RCV003967728]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002518886]\|not provided [RCV000389593]	likely benign\|uncertain significance	1	1233112	1233112	Human	2	name , trait , alternate_id
11638028	CV274365	single nucleotide variant	NM_080605.4(B3GALT6):c.699C>T (p.Asp233=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003765678]\|not provided [RCV000295132]	likely benign\|uncertain significance	1	1232977	1232977	Human	1	name
405013586	CV3083789	single nucleotide variant	NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784582]	likely benign	1	1232773	1232773	Human	1	name
404989327	CV3084078	single nucleotide variant	NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003782270]	likely benign	1	1232687	1232687	Human	1	name
404990617	CV3084209	single nucleotide variant	NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003782402]	likely benign	1	1232602	1232602	Human	1	name
405052054	CV3084681	single nucleotide variant	NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798088]	likely benign	1	1232740	1232740	Human	1	name
404984657	CV3087288	single nucleotide variant	NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003781751]	likely benign	1	1232777	1232777	Human	1	name
405019232	CV3087873	single nucleotide variant	NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003795433]	likely benign	1	1233196	1233196	Human	1	name
404996086	CV3088484	single nucleotide variant	NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003793261]	likely benign	1	1232833	1232833	Human	1	name
402493143	CV3091133	single nucleotide variant	NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003787638]	likely benign	1	1232797	1232797	Human	1	name
402511745	CV3091250	single nucleotide variant	NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003789708]	likely benign	1	1232968	1232968	Human	1	name
405018972	CV3094145	single nucleotide variant	NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784995]	likely benign	1	1232869	1232869	Human	1	name
405018490	CV3094395	single nucleotide variant	NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003785085]	likely benign	1	1233267	1233267	Human	1	name
405032569	CV3095276	single nucleotide variant	NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003796482]	likely benign	1	1233155	1233155	Human	1	name
405003963	CV3095728	single nucleotide variant	NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)	B3GALT6-related disorder [RCV003893411]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003794033]	likely benign	1	1232875	1232875	Human	2	name , trait , alternate_id
405062117	CV3102917	single nucleotide variant	NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798908]	likely benign	1	1232614	1232614	Human	1	name
405059333	CV3105912	single nucleotide variant	NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003798715]	likely benign	1	1232836	1232836	Human	1	name
405036102	CV3106204	single nucleotide variant	NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003796895]	likely benign	1	1233142	1233142	Human	1	name
405269592	CV3201637	single nucleotide variant	NM_080605.4(B3GALT6):c.438C>T (p.His146=)	B3GALT6-related disorder [RCV003899545]	likely benign	1	1232716	1232716	Human		name , trait , alternate_id
405689873	CV3290536	single nucleotide variant	NM_080605.4(B3GALT6):c.40C>G (p.Leu14Val)	Inborn genetic diseases [RCV004423449]	uncertain significance	1	1232318	1232318	Human	1	name
596945577	CV3547856	single nucleotide variant	NM_080605.4(B3GALT6):c.642G>T (p.Leu214=)	not provided [RCV004809187]	likely benign	1	1232920	1232920	Human		name
12848214	CV364354	single nucleotide variant	NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001064480]\|Inborn genetic diseases [RCV005298485]\|not provided [RCV000444888]\|not specified [RCV005238997]	uncertain significance	1	1232309	1232309	Human	2	name
597839697	CV3867756	single nucleotide variant	NM_080605.4(B3GALT6):c.70G>A (p.Ala24Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005210952]	uncertain significance	1	1232348	1232348	Human	1	name
597854474	CV3870491	single nucleotide variant	NM_080605.4(B3GALT6):c.423C>T (p.Ala141=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005228692]	uncertain significance	1	1232701	1232701	Human	1	name
597840725	CV3873575	single nucleotide variant	NM_080605.4(B3GALT6):c.84C>G (p.Tyr28Ter)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005226402]	pathogenic	1	1232362	1232362	Human	1	name
598217611	CV3926014	single nucleotide variant	NM_080605.4(B3GALT6):c.91C>T (p.Arg31Cys)	Inborn genetic diseases [RCV005293059]	uncertain significance	1	1232369	1232369	Human	1	name
616933863	CV4011834	single nucleotide variant	NM_080605.4(B3GALT6):c.423C>G (p.Ala141=)	not specified [RCV005408383]	likely benign	1	1232701	1232701	Human		name
13476198	CV442611	single nucleotide variant	NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001365605]\|not provided [RCV000520086]	uncertain significance	1	1232313	1232313	Human	1	name
13522258	CV490319	single nucleotide variant	NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001347231]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002250669]\|not provided [RCV000591509]	uncertain significance	1	1232355	1232355	Human	1	name
13538528	CV498019	single nucleotide variant	NM_080605.4(B3GALT6):c.630G>A (p.Leu210=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002065254]\|not provided [RCV000938660]	likely benign	1	1232908	1232908	Human	1	name
13539278	CV498043	single nucleotide variant	NM_080605.4(B3GALT6):c.366G>A (p.Leu122=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003767500]\|not provided [RCV001722645]	likely benign	1	1232644	1232644	Human	1	name
13537531	CV498053	single nucleotide variant	NM_080605.4(B3GALT6):c.582G>C (p.Pro194=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002529693]\|not specified [RCV000610534]	likely benign	1	1232860	1232860	Human	1	name
13535624	CV498055	single nucleotide variant	NM_080605.4(B3GALT6):c.825C>T (p.Tyr275=)	not specified [RCV000607905]	likely benign	1	1233103	1233103	Human		name
13529597	CV498062	single nucleotide variant	NM_080605.4(B3GALT6):c.477C>T (p.Ser159=)	B3GALT6-related disorder [RCV003927977]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001399256]\|not provided [RCV000959812]	likely benign	1	1232755	1232755	Human	2	name , trait , alternate_id
13836895	CV588178	single nucleotide variant	NM_080605.4(B3GALT6):c.585G>T (p.Gly195=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002067144]\|not provided [RCV000733140]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	1232863	1232863	Human	1	name
14737892	CV655030	single nucleotide variant	NM_080605.4(B3GALT6):c.483G>A (p.Ala161=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001087062]\|not provided [RCV000839129]	benign\|likely benign	1	1232761	1232761	Human	1	name
15188588	CV718161	single nucleotide variant	NM_080605.4(B3GALT6):c.582G>T (p.Pro194=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002065527]\|not specified [RCV005236398]	likely benign	1	1232860	1232860	Human	1	name
15143419	CV731651	single nucleotide variant	NM_080605.4(B3GALT6):c.508C>T (p.Leu170=)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002065684]	likely benign	1	1232786	1232786	Human	1	name
15169553	CV745633	single nucleotide variant	NM_080605.4(B3GALT6):c.879G>A (p.Leu293=)	not provided [RCV000927522]	likely benign	1	1233157	1233157	Human		name
38489746	CV941428	single nucleotide variant	NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001238543]\|not provided [RCV001555651]	uncertain significance	1	1232337	1232337	Human	1	name
42723849	CV983772	deletion	NM_080605.4(B3GALT6):c.227del (p.Ile76fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001290346]	pathogenic	1	1232505	1232505	Human	1	name
126916016	CV1039418	deletion	NM_080605.4(B3GALT6):c.651del (p.Tyr218fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001371255]	uncertain significance	1	1232929	1232929	Human	1	name
150415699	CV1175742	single nucleotide variant	NM_080605.4(B3GALT6):c.113A>G (p.Asp38Gly)	not provided [RCV001548696]	uncertain significance	1	1232391	1232391	Human		name
150423334	CV1182777	single nucleotide variant	NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002568352]\|not provided [RCV001555176]	uncertain significance	1	1232453	1232453	Human	1	name
150404999	CV1192700	single nucleotide variant	NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001882678]\|not provided [RCV001571427]	uncertain significance	1	1232551	1232551	Human	1	name
150556503	CV1303193	deletion	NM_080605.4(B3GALT6):c.606del (p.Trp203fs)	not provided [RCV001774386]	uncertain significance	1	1232883	1232883	Human		name
151767190	CV1367264	single nucleotide variant	NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002025009]	uncertain significance	1	1232505	1232505	Human	1	name
151811539	CV1376713	single nucleotide variant	NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001900001]	uncertain significance	1	1232506	1232506	Human	1	name
151722590	CV1406667	single nucleotide variant	NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002003881]	uncertain significance	1	1232427	1232427	Human	1	name
151728665	CV1410032	single nucleotide variant	NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)	Al-Gazali syndrome [RCV002503610]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001910641]	uncertain significance	1	1232426	1232426	Human	2	name
151767459	CV1415105	single nucleotide variant	NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001929190]\|Inborn genetic diseases [RCV004044216]\|not provided [RCV004785391]	uncertain significance	1	1232423	1232423	Human	2	name
151742389	CV1431616	single nucleotide variant	NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001926591]	uncertain significance	1	1232456	1232456	Human	1	name
151715898	CV1448347	single nucleotide variant	NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001965220]	uncertain significance	1	1232387	1232387	Human	1	name
151780270	CV1480242	single nucleotide variant	NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001972014]	uncertain significance	1	1232472	1232472	Human	1	name
151746956	CV1485282	duplication	NM_080605.4(B3GALT6):c.980dup (p.Ile328fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002006419]	uncertain significance	1	1233255	1233256	Human	1	name
151823941	CV1494425	single nucleotide variant	NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001955038]	uncertain significance	1	1232438	1232438	Human	1	name
151890027	CV1514499	single nucleotide variant	NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001963547]	uncertain significance	1	1232441	1232441	Human	1	name
156369906	CV1887947	single nucleotide variant	NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003092335]\|Inborn genetic diseases [RCV003161774]	uncertain significance	1	1232471	1232471	Human	2	name
156275589	CV1911839	deletion	NM_080605.4(B3GALT6):c.421del (p.Ala141fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002628253]	uncertain significance	1	1232698	1232698	Human	1	name
156434660	CV1940150	single nucleotide variant	NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003104565]	uncertain significance	1	1232394	1232394	Human	1	name
156077942	CV1985872	single nucleotide variant	NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002638802]\|not provided [RCV004593043]	uncertain significance	1	1232406	1232406	Human	1	name
156358910	CV2006869	single nucleotide variant	NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002676114]	uncertain significance	1	1232418	1232418	Human	1	name
156218581	CV2015382	single nucleotide variant	NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002700914]	uncertain significance	1	1232379	1232379	Human	1	name
156095863	CV2106472	single nucleotide variant	NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002952544]	uncertain significance	1	1232426	1232426	Human	1	name
155961557	CV2144381	single nucleotide variant	NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003015492]	uncertain significance	1	1232477	1232477	Human	1	name
155902237	CV2151635	single nucleotide variant	NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003011702]	uncertain significance	1	1232477	1232477	Human	1	name
156155079	CV2242432	single nucleotide variant	NM_080605.4(B3GALT6):c.203G>C (p.Arg68Pro)	Inborn genetic diseases [RCV002787137]	uncertain significance	1	1232481	1232481	Human	1	name
156165595	CV2270354	single nucleotide variant	NM_080605.4(B3GALT6):c.151G>A (p.Ala51Thr)	Inborn genetic diseases [RCV002827657]	uncertain significance	1	1232429	1232429	Human	1	name
156208226	CV2308103	single nucleotide variant	NM_080605.4(B3GALT6):c.202C>G (p.Arg68Gly)	Inborn genetic diseases [RCV002893591]	uncertain significance	1	1232480	1232480	Human	1	name
156150371	CV2377475	single nucleotide variant	NM_080605.4(B3GALT6):c.220A>T (p.Ser74Cys)	Inborn genetic diseases [RCV002709621]	uncertain significance	1	1232498	1232498	Human	1	name
329400161	CV2440697	single nucleotide variant	NM_080605.4(B3GALT6):c.169G>A (p.Ala57Thr)	Inborn genetic diseases [RCV003197171]	uncertain significance	1	1232447	1232447	Human	1	name
401763044	CV2707461	single nucleotide variant	NM_080605.4(B3GALT6):c.112G>A (p.Asp38Asn)	Inborn genetic diseases [RCV003281400]	uncertain significance	1	1232390	1232390	Human	1	name
402518875	CV3086169	single nucleotide variant	NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003780941]	pathogenic	1	1232513	1232513	Human	1	name
405017319	CV3094102	single nucleotide variant	NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003784952]	uncertain significance	1	1232514	1232514	Human	1	name
407470917	CV3416989	single nucleotide variant	NM_080605.4(B3GALT6):c.286G>A (p.Val96Met)	Inborn genetic diseases [RCV004599770]	uncertain significance	1	1232564	1232564	Human	1	name
596930054	CV3538672	single nucleotide variant	NM_080605.4(B3GALT6):c.122C>T (p.Ala41Val)	not provided [RCV004792141]	uncertain significance	1	1232400	1232400	Human		name
597631528	CV3630541	single nucleotide variant	NM_080605.4(B3GALT6):c.110G>C (p.Gly37Ala)	Inborn genetic diseases [RCV004967579]	uncertain significance	1	1232388	1232388	Human	1	name
597631525	CV3630579	single nucleotide variant	NM_080605.4(B3GALT6):c.245C>T (p.Ala82Val)	Inborn genetic diseases [RCV004967581]	uncertain significance	1	1232523	1232523	Human	1	name
12840909	CV364451	single nucleotide variant	NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)	B3GALT6-related disorder [RCV003960005]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001455966]\|Inborn genetic diseases [RCV002522683]\|not provided [RCV000983841]	likely benign\|uncertain significance	1	1232385	1232385	Human	3	name , trait , alternate_id
12906233	CV414727	duplication	NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	Al-Gazali syndrome [RCV001824140]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001856913]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001267718]\|not provided [RCV000488976]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	1232859	1232860	Human	3	name
13479069	CV442612	single nucleotide variant	NM_080605.4(B3GALT6):c.239G>A (p.Trp80Ter)	not provided [RCV000520848]	likely pathogenic	1	1232517	1232517	Human		name
13623876	CV515106	deletion	NM_080605.4(B3GALT6):c.446del (p.Phe149fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001299488]	uncertain significance	1	1232723	1232723	Human	1	name
13811583	CV556915	single nucleotide variant	NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001326192]	uncertain significance	1	1232514	1232514	Human	1	name
8621277	CV75083	single nucleotide variant	NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054394]	pathogenic	1	1232471	1232471	Human	1	name
8621278	CV75084	single nucleotide variant	NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001853074]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054395]	pathogenic	1	1232478	1232478	Human	2	name
8572560	CV75085	deletion	NM_080605.4(B3GALT6):c.353del (p.Asp118fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054396]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002513707]\|not provided [RCV004589545]	pathogenic\|likely pathogenic\|uncertain significance	1	1232631	1232631	Human	1	name
8572561	CV75087	deletion	NM_080605.4(B3GALT6):c.588del (p.Arg197fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054398]\|not provided [RCV004719685]	pathogenic\|likely pathogenic	1	1232860	1232860	Human	1	name
15146793	CV780306	single nucleotide variant	NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000983945]\|Inborn genetic diseases [RCV002549614]\|not provided [RCV001712832]	benign\|uncertain significance	1	1232387	1232387	Human	2	name
15146441	CV780307	single nucleotide variant	NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001504959]\|Inborn genetic diseases [RCV002550580]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001332788]\|not provided [RCV000983856]\|not specified [RCV005418943]	likely benign\|uncertain significance	1	1232388	1232388	Human	3	name
126764781	CV986873	single nucleotide variant	NM_080605.4(B3GALT6):c.149C>A (p.Pro50His)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001301229]\|Inborn genetic diseases [RCV004967975]\|not provided [RCV003227953]	uncertain significance	1	1232427	1232427	Human	2	name
126731530	CV1002098	single nucleotide variant	NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001313057]\|Inborn genetic diseases [RCV004968013]\|not provided [RCV005241452]	uncertain significance	1	1232700	1232700	Human	2	name
126728307	CV1015510	single nucleotide variant	NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001332790]	uncertain significance	1	1232762	1232762	Human	1	name
126728310	CV1015511	single nucleotide variant	NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001332791]	uncertain significance	1	1232838	1232838	Human	1	name
126743823	CV1019134	single nucleotide variant	NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001336872]\|not provided [RCV004727158]	uncertain significance	1	1232891	1232891	Human	1	name
126750260	CV1022593	single nucleotide variant	NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001352213]	uncertain significance	1	1232619	1232619	Human	1	name
126751346	CV1022594	single nucleotide variant	NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001338221]\|not provided [RCV004793442]	uncertain significance	1	1232807	1232807	Human	1	name
126751453	CV1022595	single nucleotide variant	NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001338241]\|not provided [RCV001587356]	likely pathogenic\|uncertain significance	1	1232816	1232816	Human	1	name
126738075	CV1022596	single nucleotide variant	NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001350433]	uncertain significance	1	1232942	1232942	Human	1	name
126908895	CV1039415	single nucleotide variant	NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001368142]	uncertain significance	1	1232687	1232687	Human	1	name
126915642	CV1039416	single nucleotide variant	NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001360109]	uncertain significance	1	1232827	1232827	Human	1	name
126920276	CV1039417	single nucleotide variant	NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001373714]\|not provided [RCV003313220]	likely pathogenic\|uncertain significance	1	1232909	1232909	Human	1	name
150419023	CV1196461	single nucleotide variant	NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)	Al-Gazali syndrome [RCV002501932]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001866069]\|not provided [RCV001576991]\|not specified [RCV005057522]	uncertain significance	1	1233173	1233173	Human	2	name
150447799	CV1201939	single nucleotide variant	NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001866117]\|Inborn genetic diseases [RCV002573281]\|not provided [RCV001584808]	uncertain significance	1	1232861	1232861	Human	2	name
150529663	CV1292914	single nucleotide variant	NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003120658]\|not provided [RCV001756307]	uncertain significance	1	1232832	1232832	Human	1	name
150549031	CV1294915	single nucleotide variant	NM_080605.4(B3GALT6):c.839A>C (p.Lys280Thr)	not provided [RCV001764876]	uncertain significance	1	1233117	1233117	Human		name
150554235	CV1296639	single nucleotide variant	NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003771956]\|not provided [RCV001770876]	uncertain significance	1	1233164	1233164	Human	1	name
150553526	CV1303531	single nucleotide variant	NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002540491]\|not provided [RCV001769221]	likely pathogenic\|uncertain significance	1	1233234	1233234	Human	1	name
151847093	CV1339162	single nucleotide variant	NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001995477]	uncertain significance	1	1232859	1232859	Human	1	name
151845990	CV1346336	single nucleotide variant	NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001936714]	uncertain significance	1	1233107	1233107	Human	1	name
151798871	CV1347422	single nucleotide variant	NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002027903]	uncertain significance	1	1233027	1233027	Human	1	name
151779448	CV1352319	single nucleotide variant	NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002009599]	uncertain significance	1	1233149	1233149	Human	1	name
151742650	CV1353119	single nucleotide variant	NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001893421]	uncertain significance	1	1232799	1232799	Human	1	name
151832522	CV1356147	single nucleotide variant	NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002030946]	uncertain significance	1	1233161	1233161	Human	1	name
151844673	CV1381472	single nucleotide variant	NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001881785]	uncertain significance	1	1232924	1232924	Human	1	name
151746968	CV1398432	single nucleotide variant	NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002042839]	uncertain significance	1	1232726	1232726	Human	1	name
151829375	CV1400805	single nucleotide variant	NM_080605.4(B3GALT6):c.856A>G (p.Met286Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001976499]	uncertain significance	1	1233134	1233134	Human	1	name
151835388	CV1420238	single nucleotide variant	NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001977083]	uncertain significance	1	1232667	1232667	Human	1	name
151805928	CV1427267	single nucleotide variant	NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001899495]	uncertain significance	1	1232742	1232742	Human	1	name
151849514	CV1427560	single nucleotide variant	NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001922579]\|Inborn genetic diseases [RCV004041666]	uncertain significance	1	1233162	1233162	Human	2	name
151744304	CV1428000	single nucleotide variant	NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001926787]\|not provided [RCV003234141]	uncertain significance	1	1233111	1233111	Human	1	name
151847473	CV1428284	single nucleotide variant	NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001957528]\|Inborn genetic diseases [RCV004044291]	uncertain significance	1	1233081	1233081	Human	2	name
151739552	CV1429202	single nucleotide variant	NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002022186]\|Inborn genetic diseases [RCV002573543]	uncertain significance	1	1232714	1232714	Human	2	name
151735066	CV1435451	single nucleotide variant	NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001946472]\|Inborn genetic diseases [RCV004042968]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV002074442]	uncertain significance	1	1232798	1232798	Human	3	name
151712836	CV1441069	single nucleotide variant	NM_080605.4(B3GALT6):c.347A>G (p.His116Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001964631]	uncertain significance	1	1232625	1232625	Human	1	name
151825877	CV1447118	single nucleotide variant	NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001870056]	uncertain significance	1	1233093	1233093	Human	1	name
151738027	CV1458857	single nucleotide variant	NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002005527]	uncertain significance	1	1232901	1232901	Human	1	name
151883056	CV1474983	single nucleotide variant	NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001941426]\|not provided [RCV005051940]	uncertain significance	1	1232781	1232781	Human	1	name
151827855	CV1479865	single nucleotide variant	NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001901509]	uncertain significance	1	1232781	1232781	Human	1	name
151836238	CV1489406	single nucleotide variant	NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001902324]	uncertain significance	1	1232789	1232789	Human	1	name
151864914	CV1494980	single nucleotide variant	NM_080605.4(B3GALT6):c.415A>G (p.Met139Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001980597]\|Inborn genetic diseases [RCV004045292]	uncertain significance	1	1232693	1232693	Human	2	name
151720314	CV1498308	microsatellite	NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001965873]	uncertain significance	1	1232303	1232304	Human		name
151753956	CV1501472	duplication	NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001969482]	uncertain significance	1	1232300	1232301	Human	1	name
151716795	CV1513137	single nucleotide variant	NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001890457]	uncertain significance	1	1232632	1232632	Human	1	name
151757521	CV1516209	single nucleotide variant	NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002043900]	uncertain significance	1	1232945	1232945	Human	1	name
153000623	CV1683761	single nucleotide variant	NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)	Al-Gazali syndrome [RCV002254380]	uncertain significance	1	1233027	1233027	Human	1	name
153347231	CV1691983	single nucleotide variant	NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003096161]\|not provided [RCV002273468]	uncertain significance	1	1233009	1233009	Human	1	name
155641299	CV1709616	single nucleotide variant	NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003097816]\|not provided [RCV002292716]	uncertain significance	1	1232618	1232618	Human	1	name
156279077	CV1912058	single nucleotide variant	NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002628366]\|Inborn genetic diseases [RCV002628365]\|not provided [RCV004790382]	uncertain significance	1	1232984	1232984	Human	2	name
156442408	CV1938634	single nucleotide variant	NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003112749]	uncertain significance	1	1232980	1232980	Human	1	name
156449897	CV1942170	single nucleotide variant	NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003122028]	uncertain significance	1	1232621	1232621	Human	1	name
156291198	CV1961517	single nucleotide variant	NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002577838]	uncertain significance	1	1233077	1233077	Human	1	name
156182437	CV1963052	single nucleotide variant	NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002574156]	uncertain significance	1	1232750	1232750	Human	1	name
156157946	CV1967732	single nucleotide variant	NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002594364]\|not provided [RCV003325607]	uncertain significance	1	1232586	1232586	Human	1	name
156383745	CV2001445	single nucleotide variant	NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002653839]	uncertain significance	1	1232721	1232721	Human	1	name
156355857	CV2009044	single nucleotide variant	NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002720524]	uncertain significance	1	1232810	1232810	Human	1	name
156187773	CV2020748	single nucleotide variant	NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002710985]	uncertain significance	1	1232590	1232590	Human	1	name
156041052	CV2026383	single nucleotide variant	NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)	B3GALT6-related disorder [RCV003409922]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002736185]	uncertain significance	1	1232814	1232814	Human	2	name , trait , alternate_id
156254318	CV2041194	single nucleotide variant	NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002806115]\|Inborn genetic diseases [RCV003274037]	uncertain significance	1	1232733	1232733	Human	2	name
156017503	CV2044193	single nucleotide variant	NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002795422]\|Inborn genetic diseases [RCV004064778]\|not provided [RCV004790247]	uncertain significance	1	1233094	1233094	Human	2	name
156372859	CV2059267	single nucleotide variant	NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002814439]	uncertain significance	1	1232735	1232735	Human	1	name
155944177	CV2062068	single nucleotide variant	NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002815881]	uncertain significance	1	1233041	1233041	Human	1	name
156352999	CV2065995	single nucleotide variant	NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002811923]	uncertain significance	1	1233107	1233107	Human	1	name
156193026	CV2082985	single nucleotide variant	NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002852200]	uncertain significance	1	1232813	1232813	Human	1	name
156010665	CV2100042	single nucleotide variant	NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002909088]	uncertain significance	1	1232808	1232808	Human	1	name
156138873	CV2109748	single nucleotide variant	NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002928478]\|Inborn genetic diseases [RCV003269334]	uncertain significance	1	1232648	1232648	Human	2	name
156023995	CV2112180	single nucleotide variant	NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002909749]	uncertain significance	1	1232811	1232811	Human	1	name
156088604	CV2155491	single nucleotide variant	NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003020598]	uncertain significance	1	1232951	1232951	Human	1	name
155932348	CV2156835	single nucleotide variant	NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003013706]	uncertain significance	1	1232961	1232961	Human	1	name
156252213	CV2196705	single nucleotide variant	NM_080605.4(B3GALT6):c.635A>G (p.Tyr212Cys)	Inborn genetic diseases [RCV002668450]	uncertain significance	1	1232913	1232913	Human	1	name
156046105	CV2216059	single nucleotide variant	NM_080605.4(B3GALT6):c.521A>C (p.Glu174Ala)	Inborn genetic diseases [RCV002692572]	uncertain significance	1	1232799	1232799	Human	1	name
156224640	CV2219416	single nucleotide variant	NM_080605.4(B3GALT6):c.694C>G (p.Arg232Gly)	Inborn genetic diseases [RCV002712355]	uncertain significance	1	1232972	1232972	Human	1	name
155925452	CV2230436	single nucleotide variant	NM_080605.4(B3GALT6):c.575T>G (p.Val192Gly)	Inborn genetic diseases [RCV002728027]	uncertain significance	1	1232853	1232853	Human	1	name
156244460	CV2267376	single nucleotide variant	NM_080605.4(B3GALT6):c.818A>T (p.Asn273Ile)	Inborn genetic diseases [RCV002830728]\|not provided [RCV004775325]	uncertain significance	1	1233096	1233096	Human	1	name
156123437	CV2276175	single nucleotide variant	NM_080605.4(B3GALT6):c.523C>G (p.Pro175Ala)	Inborn genetic diseases [RCV002849221]	uncertain significance	1	1232801	1232801	Human	1	name
329398394	CV2464522	single nucleotide variant	NM_080605.4(B3GALT6):c.404A>G (p.Lys135Arg)	Inborn genetic diseases [RCV003196067]	uncertain significance	1	1232682	1232682	Human	1	name
329393902	CV2472197	single nucleotide variant	NM_080605.4(B3GALT6):c.905G>T (p.Arg302Leu)	Inborn genetic diseases [RCV003218522]	uncertain significance	1	1233183	1233183	Human	1	name
329395443	CV2473144	single nucleotide variant	NM_080605.4(B3GALT6):c.931G>C (p.Val311Leu)	not provided [RCV003219128]	uncertain significance	1	1233209	1233209	Human		name
11637604	CV265441	single nucleotide variant	NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001514849]\|not provided [RCV004714630]\|not specified [RCV000287240]	benign	1	1232800	1232800	Human	1	name
11644232	CV265943	single nucleotide variant	NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001855087]\|Inborn genetic diseases [RCV004965365]\|not provided [RCV000724945]\|not specified [RCV005238822]	uncertain significance	1	1232865	1232865	Human	2	name
11641631	CV267834	single nucleotide variant	NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001503677]\|Inborn genetic diseases [RCV003165730]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001332792]\|not provided [RCV000360273]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	1233131	1233131	Human	3	name
401875233	CV2749906	single nucleotide variant	NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV003333310]	uncertain significance	1	1232876	1232876	Human	1	name
401895013	CV2792680	single nucleotide variant	NM_080605.4(B3GALT6):c.971G>A (p.Arg324Lys)	Inborn genetic diseases [RCV003372078]	uncertain significance	1	1233249	1233249	Human	1	name
405003733	CV3102221	single nucleotide variant	NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003804267]	uncertain significance	1	1233050	1233050	Human	1	name
405171146	CV3104356	single nucleotide variant	NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003803033]	uncertain significance	1	1232819	1232819	Human	1	name
405711457	CV3225899	single nucleotide variant	NM_080605.4(B3GALT6):c.547T>A (p.Trp183Arg)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV003990959]	uncertain significance	1	1232825	1232825	Human	1	name
405690174	CV3290534	single nucleotide variant	NM_080605.4(B3GALT6):c.299G>T (p.Gly100Val)	Inborn genetic diseases [RCV004423447]	uncertain significance	1	1232577	1232577	Human	1	name
405689755	CV3290537	single nucleotide variant	NM_080605.4(B3GALT6):c.512G>A (p.Arg171His)	Inborn genetic diseases [RCV004423450]	uncertain significance	1	1232790	1232790	Human	1	name
405689641	CV3290539	single nucleotide variant	NM_080605.4(B3GALT6):c.556T>G (p.Phe186Val)	Inborn genetic diseases [RCV004423452]	uncertain significance	1	1232834	1232834	Human	1	name
405689646	CV3290540	single nucleotide variant	NM_080605.4(B3GALT6):c.621C>G (p.Asp207Glu)	Inborn genetic diseases [RCV004423453]	uncertain significance	1	1232899	1232899	Human	1	name
405689654	CV3290541	single nucleotide variant	NM_080605.4(B3GALT6):c.726C>A (p.Asp242Glu)	Inborn genetic diseases [RCV004423454]\|not specified [RCV005240999]	uncertain significance	1	1233004	1233004	Human	1	name
407429703	CV3414130	single nucleotide variant	NM_080605.4(B3GALT6):c.451T>A (p.Phe151Ile)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV004595723]	uncertain significance	1	1232729	1232729	Human	1	name
407470877	CV3416979	single nucleotide variant	NM_080605.4(B3GALT6):c.427C>G (p.Leu143Val)	Inborn genetic diseases [RCV004599761]	uncertain significance	1	1232705	1232705	Human	1	name
407470936	CV3416999	single nucleotide variant	NM_080605.4(B3GALT6):c.880G>A (p.Ala294Thr)	Inborn genetic diseases [RCV004599779]	uncertain significance	1	1233158	1233158	Human	1	name
408365908	CV3511777	single nucleotide variant	NM_080605.4(B3GALT6):c.913C>T (p.Gln305Ter)	B3GALT6-related disorder [RCV004755371]	likely pathogenic	1	1233191	1233191	Human		name , trait , alternate_id
408366062	CV3514698	single nucleotide variant	NM_080605.4(B3GALT6):c.568G>A (p.Gly190Ser)	B3GALT6-related disorder [RCV004755551]	uncertain significance	1	1232846	1232846	Human		name , trait , alternate_id
408387815	CV3520497	single nucleotide variant	NM_080605.4(B3GALT6):c.425G>A (p.Trp142Ter)	not provided [RCV004761329]	likely pathogenic	1	1232703	1232703	Human		name
408381066	CV3523749	single nucleotide variant	NM_080605.4(B3GALT6):c.566G>T (p.Arg189Leu)	not provided [RCV004766147]	uncertain significance	1	1232844	1232844	Human		name
596932280	CV3538899	single nucleotide variant	NM_080605.4(B3GALT6):c.937G>A (p.Asp313Asn)	not provided [RCV004793025]	uncertain significance	1	1233215	1233215	Human		name
597650987	CV3551966	single nucleotide variant	NM_080605.4(B3GALT6):c.352G>A (p.Asp118Asn)	not provided [RCV004820679]	uncertain significance	1	1232630	1232630	Human		name
12740943	CV359211	single nucleotide variant	NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000970550]\|Inborn genetic diseases [RCV002523943]\|not provided [RCV001579634]\|not specified [RCV000413594]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	1232793	1232793	Human	2	name
597631527	CV3630569	single nucleotide variant	NM_080605.4(B3GALT6):c.398C>A (p.Thr133Lys)	Inborn genetic diseases [RCV004967580]	uncertain significance	1	1232676	1232676	Human	1	name
597631521	CV3630594	single nucleotide variant	NM_080605.4(B3GALT6):c.819C>G (p.Asn273Lys)	Inborn genetic diseases [RCV004967583]	uncertain significance	1	1233097	1233097	Human	1	name
12840995	CV364355	single nucleotide variant	NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)	B3GALT6-related disorder [RCV003902613]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000880818]\|not provided [RCV001698348]	benign\|uncertain significance	1	1232735	1232735	Human	2	name , trait , alternate_id
12841356	CV364408	single nucleotide variant	NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001861594]\|Inborn genetic diseases [RCV002526331]\|not provided [RCV000432423]	uncertain significance	1	1232645	1232645	Human	2	name
12837782	CV364455	single nucleotide variant	NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001404152]\|not provided [RCV000513657]\|not specified [RCV000425752]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	1232861	1232861	Human	1	name
597834653	CV3864309	single nucleotide variant	NM_080605.4(B3GALT6):c.636C>G (p.Tyr212Ter)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005209945]	pathogenic	1	1232914	1232914	Human	1	name
597834958	CV3864401	single nucleotide variant	NM_080605.4(B3GALT6):c.986C>T (p.Pro329Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005210037]	uncertain significance	1	1233264	1233264	Human	1	name
597835421	CV3864481	single nucleotide variant	NM_080605.4(B3GALT6):c.805C>T (p.Arg269Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005210117]\|not specified [RCV005407417]	uncertain significance	1	1233083	1233083	Human	1	name
597849606	CV3872976	single nucleotide variant	NM_080605.4(B3GALT6):c.859C>G (p.Leu287Val)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005212613]	uncertain significance	1	1233137	1233137	Human	1	name
598122102	CV3884190	single nucleotide variant	NM_080605.4(B3GALT6):c.454G>C (p.Val152Leu)	not specified [RCV005236880]	uncertain significance	1	1232732	1232732	Human		name
598122675	CV3884607	single nucleotide variant	NM_080605.4(B3GALT6):c.450G>T (p.Glu150Asp)	not specified [RCV005237299]	uncertain significance	1	1232728	1232728	Human		name
598217584	CV3926003	single nucleotide variant	NM_080605.4(B3GALT6):c.346C>T (p.His116Tyr)	Inborn genetic diseases [RCV005293055]	uncertain significance	1	1232624	1232624	Human	1	name
598255591	CV3926022	single nucleotide variant	NM_080605.4(B3GALT6):c.727G>C (p.Val243Leu)	Inborn genetic diseases [RCV005299454]	uncertain significance	1	1233005	1233005	Human	1	name
12898538	CV404900	single nucleotide variant	NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001298222]\|not provided [RCV000478140]	uncertain significance	1	1232882	1232882	Human	1	name
12905825	CV413219	single nucleotide variant	NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg)	not provided [RCV000488044]	uncertain significance	1	1232616	1232616	Human		name
13483808	CV442613	single nucleotide variant	NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001858048]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002470900]\|Inborn genetic diseases [RCV003258852]\|not provided [RCV000522158]	uncertain significance	1	1233096	1233096	Human	2	name
13523716	CV490156	single nucleotide variant	NM_080605.4(B3GALT6):c.475T>C (p.Ser159Pro)	not provided [RCV000593355]	uncertain significance	1	1232753	1232753	Human		name
13592901	CV513007	single nucleotide variant	NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001090033]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV001090032]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000625553]\|not provided [RCV003133412]	pathogenic	1	1232834	1232834	Human	2	name
13817663	CV556627	single nucleotide variant	NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000707160]\|not provided [RCV001560350]\|not specified [RCV005407912]	benign\|likely benign\|uncertain significance	1	1232666	1232666	Human	1	name
13811585	CV556917	single nucleotide variant	NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001341729]\|Inborn genetic diseases [RCV001266136]	uncertain significance	1	1232933	1232933	Human	2	name
14396643	CV612497	single nucleotide variant	NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001332789]\|not provided [RCV000761628]	uncertain significance	1	1232591	1232591	Human	1	name
14398864	CV613455	single nucleotide variant	NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000766204]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001855715]\|not provided [RCV003222124]	pathogenic\|likely pathogenic\|uncertain significance	1	1232823	1232823	Human	1	name
14733043	CV626776	single nucleotide variant	NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000818547]\|Inborn genetic diseases [RCV002537434]\|not provided [RCV001093298]	uncertain significance	1	1232619	1232619	Human	2	name
14704002	CV654170	single nucleotide variant	NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)	Spondyloepiphyseal dysplasia [RCV000825512]	likely pathogenic	1	1233041	1233041	Human	2	name
15180079	CV731650	single nucleotide variant	NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001513980]\|Inborn genetic diseases [RCV002540761]\|not provided [RCV000907266]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	1232763	1232763	Human	2	name
8621275	CV75080	single nucleotide variant	NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003764725]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054391]\|not provided [RCV001753471]	pathogenic\|likely pathogenic\|uncertain significance	1	1232972	1232972	Human	2	name
8621276	CV75081	single nucleotide variant	NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054392]	pathogenic	1	1232744	1232744	Human	1	name
8594781	CV75082	single nucleotide variant	NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV000054393]	pathogenic	1	1233177	1233177	Human	1	name
8621279	CV75086	single nucleotide variant	NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054397]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003764726]\|not provided [RCV003236774]	pathogenic\|likely pathogenic	1	1233203	1233203	Human	1	name
8621281	CV75090	single nucleotide variant	NM_080605.4(B3GALT6):c.619G>C (p.Asp207His)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV000054401]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV003225928]	pathogenic	1	1232897	1232897	Human	1	name
8621282	CV75091	single nucleotide variant	NM_080605.4(B3GALT6):c.649G>A (p.Gly217Ser)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV000054402]	pathogenic	1	1232927	1232927	Human	1	name
21071137	CV794403	single nucleotide variant	NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001858777]\|not provided [RCV000993878]	uncertain significance	1	1232954	1232954	Human	1	name
21071140	CV794404	single nucleotide variant	NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter)	not provided [RCV000993879]	likely pathogenic	1	1232959	1232959	Human		name
21071144	CV794405	single nucleotide variant	NM_080605.4(B3GALT6):c.693C>G (p.Ser231Arg)	not provided [RCV000993880]	uncertain significance	1	1232971	1232971	Human		name
26900651	CV822665	single nucleotide variant	NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)	Al-Gazali syndrome [RCV001089598]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001040148]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001269281]\|not provided [RCV003145265]	pathogenic\|uncertain significance	1	1233073	1233073	Human	2	name
26902806	CV858242	single nucleotide variant	NM_080605.4(B3GALT6):c.476C>A (p.Ser159Tyr)	Al-Gazali syndrome [RCV001089597]	pathogenic	1	1232754	1232754	Human	1	name
26902807	CV858244	single nucleotide variant	NM_080605.4(B3GALT6):c.618C>G (p.Cys206Trp)	Al-Gazali syndrome [RCV001089599]	pathogenic	1	1232896	1232896	Human	1	name
38498998	CV941429	single nucleotide variant	NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001228109]\|not provided [RCV001760223]	uncertain significance	1	1232804	1232804	Human	1	name
40886854	CV973126	single nucleotide variant	NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001880111]\|Inborn genetic diseases [RCV001266135]	uncertain significance	1	1232736	1232736	Human	2	name
40888150	CV974508	single nucleotide variant	NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001880154]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV001267717]\|not provided [RCV001788441]	likely pathogenic\|uncertain significance	1	1232725	1232725	Human	2	name
40903301	CV975853	single nucleotide variant	NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001269280]	uncertain significance	1	1233207	1233207	Human	1	name
42723848	CV983771	single nucleotide variant	NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001290345]	pathogenic\|likely pathogenic	1	1233044	1233044	Human	1	name
126725297	CV986874	single nucleotide variant	NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001302521]	uncertain significance	1	1232887	1232887	Human	1	name
150536738	CV1314247	deletion	NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003772146]\|not provided [RCV001780672]	likely pathogenic\|uncertain significance	1	1232475	1232484	Human	1	name
151832894	CV1396235	duplication	NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001901985]	uncertain significance	1	1232547	1232548	Human	1	name
126743820	CV1019133	deletion	NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs)	B3GALT6-related disorder [RCV004754826]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002010337]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV004796702]\|not provided [RCV002463097]	pathogenic\|likely pathogenic\|uncertain significance	1	1232788	1232795	Human	2	name , trait , alternate_id
150548845	CV1293933	microsatellite	NM_080605.4(B3GALT6):c.661_662dup (p.Ala222fs)	not provided [RCV001764772]	uncertain significance	1	1232935	1232936	Human		name
150536736	CV1314246	duplication	NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)	Al-Gazali syndrome [RCV005006047]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002541175]\|not provided [RCV001780671]	likely pathogenic\|uncertain significance	1	1233176	1233177	Human	2	name
151821875	CV1385211	microsatellite	NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001975813]\|Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [RCV005256837]	uncertain significance	1	1232806	1232807	Human		name
151892288	CV1480801	duplication	NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001943955]	uncertain significance	1	1232766	1232767	Human	1	name
597892260	CV3871759	deletion	NM_080605.4(B3GALT6):c.521_528del (p.Glu174fs)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV005218928]	pathogenic	1	1232792	1232799	Human	1	name
12901917	CV404899	microsatellite	NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001856857]\|Inborn genetic diseases [RCV005286102]\|not provided [RCV000485868]	conflicting interpretations of pathogenicity\|uncertain significance	1	1232632	1232633	Human		name
8572563	CV75092	deletion	NM_080605.4(B3GALT6):c.323_344del (p.Ala108fs)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures [RCV000054403]	pathogenic	1	1232595	1232616	Human	1	name
156204731	CV2011142	inversion	NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV002700400]	uncertain significance	1	1232750	1232751	Human		name
12906883	CV414726	duplication	NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001243819]\|not provided [RCV000489770]	uncertain significance	1	1232289	1232290	Human	1	name
13485253	CV442610	duplication	NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000651599]\|not provided [RCV001591183]	benign\|likely benign\|uncertain significance	1	1232289	1232290	Human	1	name
405088181	CV3108072	indel	NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV003800770]	uncertain significance	1	1232419	1232420	Human		name
151748931	CV1460319	duplication	NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001894123]	uncertain significance	1	1232491	1232492	Human	1	name
597833141	CV3734898	microsatellite	NM_080605.4(B3GALT6):c.159_164del (p.Arg54_Ala55del)	not provided [RCV005054631]	uncertain significance	1	1232434	1232439	Human		name
597833249	CV3735525	microsatellite	NM_080605.4(B3GALT6):c.25CGG[4] (p.Arg11_Ala12insArg)	not provided [RCV005063387]	uncertain significance	1	1232300	1232301	Human		name
126732429	CV1000132	duplication	NM_080605.4(B3GALT6):c.688_708dup (p.Leu230_Arg236dup)	not provided [RCV001310828]	uncertain significance	1	1232954	1232955	Human		name
8572562	CV75089	deletion	NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV000054400]\|not provided [RCV004791251]	pathogenic\|uncertain significance	1	1232685	1232693	Human	1	name
126733753	CV1002097	microsatellite	NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3])	Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001313451]	uncertain significance	1	1232289	1232290	Human		name

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