ClinVar for MedGen (Select 766452) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24268281.	NC_000008.10:g.(?_145582954)_(145584675_?)dup GRCh37: Chr8:145582954-145584675	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 24268272.	NC_000008.10:g.(?_145584230)_(145584675_?)dup GRCh37: Chr8:145584230-145584675	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 24159883.	NM_001363118.2(SLC52A2):c.157G>C (p.Val53Leu) GRCh37: Chr8:145583309 GRCh38: Chr8:144359649	SLC52A2	V53L	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 24142574.	NM_001363118.2(SLC52A2):c.780C>T (p.Thr260=) GRCh37: Chr8:145583932 GRCh38: Chr8:144360272	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 21964065.	NM_001363118.2(SLC52A2):c.214G>A (p.Ala72Thr) GRCh37: Chr8:145583366 GRCh38: Chr8:144359706	SLC52A2	A72T	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 21962756.	NM_001363118.2(SLC52A2):c.456C>T (p.Gly152=) GRCh37: Chr8:145583608 GRCh38: Chr8:144359948	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 21625987.	NM_001363118.2(SLC52A2):c.814C>T (p.Leu272=) GRCh37: Chr8:145583966 GRCh38: Chr8:144360306	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 21609408.	NM_001363118.2(SLC52A2):c.477C>T (p.Cys159=) GRCh37: Chr8:145583629 GRCh38: Chr8:144359969	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 21597159.	NM_001363118.2(SLC52A2):c.1272C>T (p.Phe424=) GRCh37: Chr8:145584609 GRCh38: Chr8:144360949	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 215925210.	NM_001363118.2(SLC52A2):c.738G>A (p.Glu246=) GRCh37: Chr8:145583890 GRCh38: Chr8:144360230	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 215550411.	NM_001363118.2(SLC52A2):c.303T>C (p.His101=) GRCh37: Chr8:145583455 GRCh38: Chr8:144359795	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 215328512.	NM_001363118.2(SLC52A2):c.550C>T (p.Pro184Ser) GRCh37: Chr8:145583702 GRCh38: Chr8:144360042	SLC52A2	P184S, P96S	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 214962713.	NM_001363118.2(SLC52A2):c.1004C>T (p.Ser335Phe) GRCh37: Chr8:145584252 GRCh38: Chr8:144360592	SLC52A2	S171F, S335F, S247F	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 214436614.	NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val) GRCh37: Chr8:145583618 GRCh38: Chr8:144359958	SLC52A2	L68V, L156V	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 214397915.	NM_001363118.2(SLC52A2):c.216C>T (p.Ala72=) GRCh37: Chr8:145583368 GRCh38: Chr8:144359708	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 214299616.	NM_001363118.2(SLC52A2):c.518C>T (p.Pro173Leu) GRCh37: Chr8:145583670 GRCh38: Chr8:144360010	SLC52A2	P173L, P85L	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 213469117.	NM_001363118.2(SLC52A2):c.453A>G (p.Gln151=) GRCh37: Chr8:145583605 GRCh38: Chr8:144359945	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213121718.	NM_001363118.2(SLC52A2):c.127G>C (p.Glu43Gln) GRCh37: Chr8:145583080 GRCh38: Chr8:144359420	SLC52A2	E43Q	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 212091319.	NM_001363118.2(SLC52A2):c.62T>A (p.Met21Lys) GRCh37: Chr8:145583015 GRCh38: Chr8:144359355	SLC52A2	M21K	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 210250120.	NM_001363118.2(SLC52A2):c.716G>A (p.Gly239Glu) GRCh37: Chr8:145583868 GRCh38: Chr8:144360208	SLC52A2	G239E, G151E, G75E	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 208926121.	NM_001363118.2(SLC52A2):c.130G>A (p.Gly44Ser) GRCh37: Chr8:145583083 GRCh38: Chr8:144359423	SLC52A2	A44T, G44S	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 208891322.	NM_001363118.2(SLC52A2):c.902C>T (p.Ser301Phe) GRCh37: Chr8:145584054 GRCh38: Chr8:144360394	SLC52A2	S137F, S301F, S213F	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208776423.	NM_001363118.2(SLC52A2):c.479T>G (p.Val160Gly) GRCh37: Chr8:145583631 GRCh38: Chr8:144359971	SLC52A2	V72G, V160G	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 208419024.	NM_001363118.2(SLC52A2):c.437C>T (p.Ser146Leu) GRCh37: Chr8:145583589 GRCh38: Chr8:144359929	SLC52A2	S146L, S58L	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 207736525.	NM_001363118.2(SLC52A2):c.317C>T (p.Ala106Val) GRCh37: Chr8:145583469 GRCh38: Chr8:144359809	SLC52A2	A106V, A18V	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Apr 2, 2022)	criteria provided, single submitter
Select item 207471026.	NM_001363118.2(SLC52A2):c.258G>C (p.Val86=) GRCh37: Chr8:145583410 GRCh38: Chr8:144359750	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 206951327.	NM_001363118.2(SLC52A2):c.1326C>T (p.Pro442=) GRCh37: Chr8:145584663 GRCh38: Chr8:144361003	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 206155928.	NM_001363118.2(SLC52A2):c.49G>T (p.Ala17Ser) GRCh37: Chr8:145583002 GRCh38: Chr8:144359342	SLC52A2	A17S	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 205074629.	NM_001363118.2(SLC52A2):c.955G>A (p.Ala319Thr) GRCh37: Chr8:145584107 GRCh38: Chr8:144360447	SLC52A2	A155T, A319T, A231T	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 204892130.	NM_001363118.2(SLC52A2):c.1002-17C>G GRCh37: Chr8:145584233 GRCh38: Chr8:144360573	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 204598531.	NM_001363118.2(SLC52A2):c.844C>T (p.Leu282=) GRCh37: Chr8:145583996 GRCh38: Chr8:144360336	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 204007232.	NM_001363118.2(SLC52A2):c.154T>A (p.Ser52Thr) GRCh37: Chr8:145583306 GRCh38: Chr8:144359646	SLC52A2	S52T	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 203942733.	NM_001363118.2(SLC52A2):c.1303A>G (p.Ser435Gly) GRCh37: Chr8:145584640 GRCh38: Chr8:144360980	SLC52A2	S347G, S435G, S271G	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 203721634.	NM_001363118.2(SLC52A2):c.608T>C (p.Leu203Pro) GRCh37: Chr8:145583760 GRCh38: Chr8:144360100	SLC52A2	L115P, L203P	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 203705935.	NM_001363118.2(SLC52A2):c.1277dup (p.Thr427fs) GRCh37: Chr8:145584608-145584609 GRCh38: Chr8:144360948-144360949	SLC52A2	T263fs, T427fs	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 203229036.	NM_001363118.2(SLC52A2):c.1109C>T (p.Ala370Val) GRCh37: Chr8:145584357 GRCh38: Chr8:144360697	SLC52A2	A282V, A370V, A206V	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 203228837.	NM_001363118.2(SLC52A2):c.1075C>G (p.Leu359Val) GRCh37: Chr8:145584323 GRCh38: Chr8:144360663	SLC52A2	L271V, L195V, L359V	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 202490538.	NM_001363118.2(SLC52A2):c.159G>C (p.Val53=) GRCh37: Chr8:145583311 GRCh38: Chr8:144359651	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 202234939.	NM_001363118.2(SLC52A2):c.282G>T (p.Leu94=) GRCh37: Chr8:145583434 GRCh38: Chr8:144359774	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 201417240.	NM_001363118.2(SLC52A2):c.1232C>A (p.Ala411Asp) GRCh37: Chr8:145584569 GRCh38: Chr8:144360909	SLC52A2	A411D, A247D, A323D	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 200570841.	NM_001363118.2(SLC52A2):c.660A>C (p.Pro220=) GRCh37: Chr8:145583812 GRCh38: Chr8:144360152	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 200009642.	NM_001363118.2(SLC52A2):c.782C>G (p.Thr261Ser) GRCh37: Chr8:145583934 GRCh38: Chr8:144360274	SLC52A2	T261S, T173S, T97S	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199916543.	NM_001363118.2(SLC52A2):c.1212A>G (p.Ala404=) GRCh37: Chr8:145584549 GRCh38: Chr8:144360889	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 199158444.	NM_001363118.2(SLC52A2):c.444C>T (p.Phe148=) GRCh37: Chr8:145583596 GRCh38: Chr8:144359936	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 198385845.	NM_001363118.2(SLC52A2):c.1002-18T>C GRCh37: Chr8:145584232 GRCh38: Chr8:144360572	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 197887546.	NM_001363118.2(SLC52A2):c.385A>T (p.Asn129Tyr) GRCh37: Chr8:145583537 GRCh38: Chr8:144359877	SLC52A2	N129Y, N41Y	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 197828647.	NM_001363118.2(SLC52A2):c.1181G>C (p.Ser394Thr) GRCh37: Chr8:145584518 GRCh38: Chr8:144360858	SLC52A2	S230T, S306T, S394T	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 197567948.	NM_001363118.2(SLC52A2):c.327dup (p.His110fs) GRCh37: Chr8:145583478-145583479 GRCh38: Chr8:144359818-144359819	SLC52A2	H110fs	Brown-Vialetto-van Laere syndrome 2	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 196761449.	NM_001363118.2(SLC52A2):c.684G>A (p.Glu228=) GRCh37: Chr8:145583836 GRCh38: Chr8:144360176	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 196708950.	NM_001363118.2(SLC52A2):c.748C>T (p.Leu250=) GRCh37: Chr8:145583900 GRCh38: Chr8:144360240	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 195284351.	NM_001363118.2(SLC52A2):c.131-11C>T GRCh37: Chr8:145583272 GRCh38: Chr8:144359612	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 194093952.	NM_001363118.2(SLC52A2):c.174G>A (p.Gly58=) GRCh37: Chr8:145583326 GRCh38: Chr8:144359666	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 193250453.	NM_001363118.2(SLC52A2):c.1233C>T (p.Ala411=) GRCh37: Chr8:145584570 GRCh38: Chr8:144360910	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 192085154.	NM_001363118.2(SLC52A2):c.1152C>A (p.Gly384=) GRCh37: Chr8:145584489 GRCh38: Chr8:144360829	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 190318355.	NM_001363118.2(SLC52A2):c.1221A>T (p.Ala407=) GRCh37: Chr8:145584558 GRCh38: Chr8:144360898	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 181016756.	NM_001363118.2(SLC52A2):c.229G>A (p.Glu77Lys) GRCh37: Chr8:145583381 GRCh38: Chr8:144359721	SLC52A2	E77K	Brown-Vialetto-van Laere syndrome 2, not provided	Uncertain significance (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179715457.	NM_001363118.2(SLC52A2):c.287C>T (p.Ala96Val) GRCh37: Chr8:145583439 GRCh38: Chr8:144359779	SLC52A2	A8V, A96V	Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173992658.	NM_001363118.2(SLC52A2):c.434G>A (p.Arg145Gln) GRCh37: Chr8:145583586 GRCh38: Chr8:144359926	SLC52A2	R145Q, R57Q	Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172042859.	NM_001363118.2(SLC52A2):c.644T>A (p.Leu215Gln) GRCh37: Chr8:145583796 GRCh38: Chr8:144360136	SLC52A2	L127Q, L215Q, L51Q	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 171740060.	NM_001363118.2(SLC52A2):c.698T>C (p.Leu233Pro) GRCh37: Chr8:145583850 GRCh38: Chr8:144360190	SLC52A2	L145P, L233P, L69P	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 167932061.	NM_001363118.2(SLC52A2):c.916G>T (p.Gly306Trp) GRCh37: Chr8:145584068 GRCh38: Chr8:144360408	SLC52A2	G142W, G306W	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 167294662.	NM_001363118.2(SLC52A2):c.1092C>T (p.Pro364=) GRCh37: Chr8:145584340 GRCh38: Chr8:144360680	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 166439463.	NM_001363118.2(SLC52A2):c.1257C>T (p.Gly419=) GRCh37: Chr8:145584594 GRCh38: Chr8:144360934	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 166416264.	NM_001363118.2(SLC52A2):c.1002-11G>A GRCh37: Chr8:145584239 GRCh38: Chr8:144360579	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 166389465.	NM_001363118.2(SLC52A2):c.1053C>A (p.Gly351=) GRCh37: Chr8:145584301 GRCh38: Chr8:144360641	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 165065366.	NM_001363118.2(SLC52A2):c.130+13G>A GRCh37: Chr8:145583096 GRCh38: Chr8:144359436	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 19, 2021)	criteria provided, single submitter
Select item 163499067.	NM_001363118.2(SLC52A2):c.615C>T (p.Val205=) GRCh37: Chr8:145583767 GRCh38: Chr8:144360107	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 163420968.	NM_001363118.2(SLC52A2):c.1125+17A>G GRCh37: Chr8:145584390 GRCh38: Chr8:144360730	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 163268669.	NM_001363118.2(SLC52A2):c.756G>A (p.Glu252=) GRCh37: Chr8:145583908 GRCh38: Chr8:144360248	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 162994270.	NM_001363118.2(SLC52A2):c.1126-6C>T GRCh37: Chr8:145584457 GRCh38: Chr8:144360797	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 162699571.	NM_001363118.2(SLC52A2):c.466C>T (p.Leu156=) GRCh37: Chr8:145583618 GRCh38: Chr8:144359958	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 23, 2021)	criteria provided, single submitter
Select item 162190772.	NM_001363118.2(SLC52A2):c.663A>G (p.Pro221=) GRCh37: Chr8:145583815 GRCh38: Chr8:144360155	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 162176973.	NM_001363118.2(SLC52A2):c.1002-12C>T GRCh37: Chr8:145584238 GRCh38: Chr8:144360578	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 160477374.	NM_001363118.2(SLC52A2):c.246G>A (p.Arg82=) GRCh37: Chr8:145583398 GRCh38: Chr8:144359738	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 159808575.	NM_001363118.2(SLC52A2):c.131-16C>T GRCh37: Chr8:145583267 GRCh38: Chr8:144359607	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Sep 20, 2021)	criteria provided, single submitter
Select item 159651976.	NM_001363118.2(SLC52A2):c.816A>G (p.Leu272=) GRCh37: Chr8:145583968 GRCh38: Chr8:144360308	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 159602877.	NM_001363118.2(SLC52A2):c.123T>C (p.Leu41=) GRCh37: Chr8:145583076 GRCh38: Chr8:144359416	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 158975478.	NM_001363118.2(SLC52A2):c.978C>T (p.Phe326=) GRCh37: Chr8:145584130 GRCh38: Chr8:144360470	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 158622479.	NM_001363118.2(SLC52A2):c.131-8C>T GRCh37: Chr8:145583275 GRCh38: Chr8:144359615	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 19, 2021)	criteria provided, single submitter
Select item 158488580.	NM_001363118.2(SLC52A2):c.1002-15del GRCh37: Chr8:145584235 GRCh38: Chr8:144360575	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 158219281.	NM_001363118.2(SLC52A2):c.150C>T (p.Tyr50=) GRCh37: Chr8:145583302 GRCh38: Chr8:144359642	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Feb 7, 2021)	criteria provided, single submitter
Select item 158174982.	NM_001363118.2(SLC52A2):c.1001+9G>A GRCh37: Chr8:145584162 GRCh38: Chr8:144360502	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 157886383.	NM_001363118.2(SLC52A2):c.525C>A (p.Ala175=) GRCh37: Chr8:145583677 GRCh38: Chr8:144360017	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 157805284.	NM_001363118.2(SLC52A2):c.918G>A (p.Gly306=) GRCh37: Chr8:145584070 GRCh38: Chr8:144360410	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 157565785.	NM_001363118.2(SLC52A2):c.1275C>G (p.Pro425=) GRCh37: Chr8:145584612 GRCh38: Chr8:144360952	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Aug 17, 2021)	criteria provided, single submitter
Select item 157482486.	NM_001363118.2(SLC52A2):c.681G>A (p.Gly227=) GRCh37: Chr8:145583833 GRCh38: Chr8:144360173	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 22, 2021)	criteria provided, single submitter
Select item 157359887.	NM_001363118.2(SLC52A2):c.783C>T (p.Thr261=) GRCh37: Chr8:145583935 GRCh38: Chr8:144360275	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Feb 14, 2021)	criteria provided, single submitter
Select item 157308288.	NM_001363118.2(SLC52A2):c.131-12C>T GRCh37: Chr8:145583271 GRCh38: Chr8:144359611	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 156410889.	NM_001363118.2(SLC52A2):c.1059G>T (p.Leu353=) GRCh37: Chr8:145584307 GRCh38: Chr8:144360647	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Dec 10, 2020)	criteria provided, single submitter
Select item 155637690.	NM_001363118.2(SLC52A2):c.1278G>C (p.Pro426=) GRCh37: Chr8:145584615 GRCh38: Chr8:144360955	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Nov 12, 2021)	criteria provided, single submitter
Select item 155155391.	NM_001363118.2(SLC52A2):c.471G>A (p.Leu157=) GRCh37: Chr8:145583623 GRCh38: Chr8:144359963	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 154758292.	NM_001363118.2(SLC52A2):c.867G>A (p.Leu289=) GRCh37: Chr8:145584019 GRCh38: Chr8:144360359	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Apr 4, 2021)	criteria provided, single submitter
Select item 153298293.	NM_001363118.2(SLC52A2):c.702G>A (p.Gln234=) GRCh37: Chr8:145583854 GRCh38: Chr8:144360194	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153126594.	NM_001363118.2(SLC52A2):c.1125+15A>C GRCh37: Chr8:145584388 GRCh38: Chr8:144360728	SLC52A2		Brown-Vialetto-van Laere syndrome 2	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 152502895.	NM_001363118.2(SLC52A2):c.718G>A (p.Ala240Thr) GRCh37: Chr8:145583870 GRCh38: Chr8:144360210	SLC52A2	A240T, A76T	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 7, 2021)	criteria provided, single submitter
Select item 152093296.	NM_001363118.2(SLC52A2):c.224A>G (p.Lys75Arg) GRCh37: Chr8:145583376 GRCh38: Chr8:144359716	SLC52A2	K75R	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 151772897.	NM_001363118.2(SLC52A2):c.1325C>A (p.Pro442His) GRCh37: Chr8:145584662 GRCh38: Chr8:144361002	SLC52A2	P278H, P442H	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 151751098.	NM_001363118.2(SLC52A2):c.400C>T (p.Pro134Ser) GRCh37: Chr8:145583552 GRCh38: Chr8:144359892	SLC52A2	P134S	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 151423699.	NM_001363118.2(SLC52A2):c.1193A>G (p.His398Arg) GRCh37: Chr8:145584530 GRCh38: Chr8:144360870	SLC52A2	H234R, H398R	Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1514205100.	NM_001363118.2(SLC52A2):c.607C>T (p.Leu203Phe) GRCh37: Chr8:145583759 GRCh38: Chr8:144360099	SLC52A2	L203F	Brown-Vialetto-van Laere syndrome 2	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter

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