ClinVar for MedGen (Select 98047) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25038101.	NM_020451.3(SELENON):c.1499dup (p.Asn501fs) GRCh37: Chr1:26140482-26140483 GRCh38: Chr1:25813991-25813992	SELENON	N467fs, N501fs	Eichsfeld type congenital muscular dystrophy	Likely pathogenic (Apr 12, 2023)	criteria provided, single submitter
Select item 24995192.	NM_020451.3(SELENON):c.1168del (p.Leu390fs) GRCh37: Chr1:26138256 GRCh38: Chr1:25811765	SELENON	L356fs, L390fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Apr 20, 2023)	no assertion criteria provided
Select item 24459623.	NM_020451.3(SELENON):c.600_601del (p.Phe201fs) GRCh37: Chr1:26135131-26135132 GRCh38: Chr1:25808640-25808641	SELENON	F167fs, F201fs	Eichsfeld type congenital muscular dystrophy	Likely pathogenic (Feb 24, 2023)	criteria provided, single submitter
Select item 24443224.	NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter) GRCh37: Chr1:26138311 GRCh38: Chr1:25811820	SELENON	E374, E408	Eichsfeld type congenital muscular dystrophy	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24265535.	NC_000001.10:g.(?_26128487)_(26128628_?)dup GRCh37: Chr1:26128487-26128628	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 24195596.	NM_020451.3(SELENON):c.142del (p.Val48fs) GRCh37: Chr1:26126861 GRCh38: Chr1:25800370	SELENON	V48fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Sep 5, 2022)	criteria provided, single submitter
Select item 24188387.	NM_020451.3(SELENON):c.-30_64del (p.Met1fs) GRCh37: Chr1:26126687-26126780 GRCh38: Chr1:25800196-25800289	SELENON	M1fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 24169858.	NM_020451.3(SELENON):c.152G>A (p.Arg51His) GRCh37: Chr1:26126873 GRCh38: Chr1:25800382	SELENON	R51H	Eichsfeld type congenital muscular dystrophy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 24126829.	NM_020451.3(SELENON):c.1388-1G>C GRCh37: Chr1:26140371 GRCh38: Chr1:25813880	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 241267210.	NM_020451.3(SELENON):c.1176del (p.Glu394fs) GRCh37: Chr1:26138265 GRCh38: Chr1:25811774	SELENON	E360fs, E394fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 241266211.	NM_020451.3(SELENON):c.69_76dup (p.Arg26fs) GRCh37: Chr1:26126782-26126783 GRCh38: Chr1:25800291-25800292	SELENON	R26fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 241265712.	NM_020451.3(SELENON):c.877C>T (p.His293Tyr) GRCh37: Chr1:26136178 GRCh38: Chr1:25809687	SELENON	H293Y, H259Y	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 241264513.	NM_020451.3(SELENON):c.820G>C (p.Ala274Pro) GRCh37: Chr1:26135589 GRCh38: Chr1:25809098	SELENON	A274P, A240P	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 219750614.	NM_020451.3(SELENON):c.872+13C>T GRCh37: Chr1:26135654 GRCh38: Chr1:25809163	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 219750515.	NM_020451.3(SELENON):c.94G>C (p.Ala32Pro) GRCh37: Chr1:26126815 GRCh38: Chr1:25800324	SELENON	A32P	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 218503316.	NM_020451.3(SELENON):c.99G>T (p.Leu33=) GRCh37: Chr1:26126820 GRCh38: Chr1:25800329	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 218177717.	NM_020451.3(SELENON):c.577G>A (p.Ala193Thr) GRCh37: Chr1:26135110 GRCh38: Chr1:25808619	SELENON	A159T, A193T	Eichsfeld type congenital muscular dystrophy	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 217914118.	NM_020451.3(SELENON):c.703C>T (p.Leu235=) GRCh37: Chr1:26135236 GRCh38: Chr1:25808745	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 217588319.	NM_020451.3(SELENON):c.403+14C>T GRCh37: Chr1:26128622 GRCh38: Chr1:25802131	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 216670120.	NM_020451.3(SELENON):c.377A>G (p.Asn126Ser) GRCh37: Chr1:26128582 GRCh38: Chr1:25802091	SELENON	N126S	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 216654221.	NM_020451.3(SELENON):c.1759C>G (p.Leu587Val) GRCh37: Chr1:26142195 GRCh38: Chr1:25815704	SELENON	L553V, L587V	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 216575522.	NM_020451.3(SELENON):c.1761C>T (p.Leu587=) GRCh37: Chr1:26142197 GRCh38: Chr1:25815706	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 216407323.	NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile) GRCh37: Chr1:26142127 GRCh38: Chr1:25815636	SELENON	T530I, T564I	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 216154624.	NM_020451.3(SELENON):c.906C>T (p.Pro302=) GRCh37: Chr1:26136207 GRCh38: Chr1:25809716	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 216085625.	NM_020451.3(SELENON):c.1764C>T (p.Leu588=) GRCh37: Chr1:26142200 GRCh38: Chr1:25815709	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 215980926.	NM_020451.3(SELENON):c.636G>A (p.Pro212=) GRCh37: Chr1:26135169 GRCh38: Chr1:25808678	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 215932127.	NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro) GRCh37: Chr1:26142166 GRCh38: Chr1:25815675	SELENON	L577P, L543P	not provided, Eichsfeld type congenital muscular dystrophy	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215932028.	NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter) GRCh37: Chr1:26138278 GRCh38: Chr1:25811787	SELENON	Q397, Q363	Eichsfeld type congenital muscular dystrophy	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 215890629.	NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser) GRCh37: Chr1:26136305 GRCh38: Chr1:25809814	SELENON	N301S, N335S	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 215508330.	NM_020451.3(SELENON):c.1674C>T (p.Leu558=) GRCh37: Chr1:26142110 GRCh38: Chr1:25815619	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 215149331.	NM_020451.3(SELENON):c.544C>T (p.Arg182Cys) GRCh37: Chr1:26135077 GRCh38: Chr1:25808586	SELENON	R182C, R148C	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 214762132.	NM_020451.3(SELENON):c.553C>T (p.Leu185=) GRCh37: Chr1:26135086 GRCh38: Chr1:25808595	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 214608433.	NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr) GRCh37: Chr1:26138359 GRCh38: Chr1:25811868	SELENON	P424T, P390T	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 214253834.	NM_020451.3(SELENON):c.1602+17A>G GRCh37: Chr1:26140686 GRCh38: Chr1:25814195	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214059035.	NM_020451.3(SELENON):c.28G>A (p.Gly10Arg) GRCh37: Chr1:26126749 GRCh38: Chr1:25800258	SELENON	G10R	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213929336.	NM_020451.3(SELENON):c.1010+18G>A GRCh37: Chr1:26136329 GRCh38: Chr1:25809838	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 213817137.	NM_020451.3(SELENON):c.975C>T (p.His325=) GRCh37: Chr1:26136276 GRCh38: Chr1:25809785	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213420538.	NM_020451.3(SELENON):c.1281+7C>T GRCh37: Chr1:26138377 GRCh38: Chr1:25811886	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213221639.	NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser) GRCh37: Chr1:26138197 GRCh38: Chr1:25811706	SELENON	T336S, T370S	Eichsfeld type congenital muscular dystrophy	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 212913540.	NM_020451.3(SELENON):c.167A>C (p.Gln56Pro) GRCh37: Chr1:26126888 GRCh38: Chr1:25800397	SELENON	Q56P	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 212553541.	NM_020451.3(SELENON):c.1297T>G (p.Phe433Val) GRCh37: Chr1:26139193 GRCh38: Chr1:25812702	SELENON	F433V, F399V	not provided, Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212443342.	NM_020451.3(SELENON):c.795G>A (p.Val265=) GRCh37: Chr1:26135564 GRCh38: Chr1:25809073	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212047943.	NM_020451.3(SELENON):c.156C>T (p.His52=) GRCh37: Chr1:26126877 GRCh38: Chr1:25800386	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211901444.	NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr) GRCh37: Chr1:26140571 GRCh38: Chr1:25814080	SELENON	N502Y, N468Y	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211765645.	NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn) GRCh37: Chr1:26142086 GRCh38: Chr1:25815595	SELENON	K516N, K550N	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 211662046.	NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser) GRCh37: Chr1:26139197 GRCh38: Chr1:25812706	SELENON	T434S, T400S	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 211317247.	NM_020451.3(SELENON):c.-21_183+6del GRCh37: Chr1:26126697-26126906 GRCh38: Chr1:25800206-25800415	SELENON		Eichsfeld type congenital muscular dystrophy	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 211143048.	NM_020451.3(SELENON):c.1388-12C>T GRCh37: Chr1:26140360 GRCh38: Chr1:25813869	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 210936049.	NM_020451.3(SELENON):c.748-12C>T GRCh37: Chr1:26135505 GRCh38: Chr1:25809014	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 210666150.	NM_020451.3(SELENON):c.1388-6G>C GRCh37: Chr1:26140366 GRCh38: Chr1:25813875	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 210000051.	NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs) GRCh37: Chr1:26140405-26140406 GRCh38: Chr1:25813914-25813915	SELENON	E474fs, E440fs	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 209916652.	NM_020451.3(SELENON):c.403+15dup GRCh37: Chr1:26128622-26128623 GRCh38: Chr1:25802131-25802132	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 209606553.	NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys) GRCh37: Chr1:26138207 GRCh38: Chr1:25811716	SELENON	S339C, S373C	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 209492954.	NM_020451.3(SELENON):c.1282-1G>T GRCh37: Chr1:26139177 GRCh38: Chr1:25812686	SELENON		Eichsfeld type congenital muscular dystrophy	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 209428155.	NM_020451.3(SELENON):c.184-12C>T GRCh37: Chr1:26127522 GRCh38: Chr1:25801031	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 209415356.	NM_020451.3(SELENON):c.246C>T (p.Asp82=) GRCh37: Chr1:26127596 GRCh38: Chr1:25801105	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 208896257.	NM_020451.3(SELENON):c.672C>A (p.Ile224=) GRCh37: Chr1:26135205 GRCh38: Chr1:25808714	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 208784458.	NM_020451.3(SELENON):c.1059C>T (p.Ser353=) GRCh37: Chr1:26137993 GRCh38: Chr1:25811502	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 207991359.	NM_020451.3(SELENON):c.1662C>G (p.Ile554Met) GRCh37: Chr1:26142098 GRCh38: Chr1:25815607	SELENON	I520M, I554M	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 207736060.	NM_020451.3(SELENON):c.367C>T (p.Pro123Ser) GRCh37: Chr1:26128572 GRCh38: Chr1:25802081	SELENON	P123S	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 206791761.	NM_020451.3(SELENON):c.1377G>C (p.Gln459His) GRCh37: Chr1:26139273 GRCh38: Chr1:25812782	SELENON	Q425H, Q459H	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206707962.	NM_020451.3(SELENON):c.1524C>G (p.His508Gln) GRCh37: Chr1:26140591 GRCh38: Chr1:25814100	SELENON	H508Q, H474Q	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206305663.	NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro) GRCh37: Chr1:26139251 GRCh38: Chr1:25812760	SELENON	L418P, L452P	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 205927764.	NM_020451.3(SELENON):c.542C>T (p.Ser181Phe) GRCh37: Chr1:26135075 GRCh38: Chr1:25808584	SELENON	S147F, S181F	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 205842565.	NM_020451.3(SELENON):c.608C>A (p.Thr203Asn) GRCh37: Chr1:26135141 GRCh38: Chr1:25808650	SELENON	T169N, T203N	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205753866.	NM_020451.3(SELENON):c.1500+16G>A GRCh37: Chr1:26140500 GRCh38: Chr1:25814009	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205653767.	NM_020451.3(SELENON):c.339C>T (p.Cys113=) GRCh37: Chr1:26128544 GRCh38: Chr1:25802053	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 205447168.	NM_020451.3(SELENON):c.1207A>G (p.Ile403Val) GRCh37: Chr1:26138296 GRCh38: Chr1:25811805	SELENON	I369V, I403V	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 204441669.	NM_020451.3(SELENON):c.1010+7G>A GRCh37: Chr1:26136318 GRCh38: Chr1:25809827	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 204316770.	NM_020451.3(SELENON):c.549C>T (p.Leu183=) GRCh37: Chr1:26135082 GRCh38: Chr1:25808591	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 203984871.	NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn) GRCh37: Chr1:26138248 GRCh38: Chr1:25811757	SELENON	D353N, D387N	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 203950372.	NM_020451.3(SELENON):c.464C>T (p.Thr155Met) GRCh37: Chr1:26131693 GRCh38: Chr1:25805202	SELENON	T155M, T121M	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 203919573.	NM_020451.3(SELENON):c.1602+10C>G GRCh37: Chr1:26140679 GRCh38: Chr1:25814188	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 203834374.	NM_020451.3(SELENON):c.821C>G (p.Ala274Gly) GRCh37: Chr1:26135590 GRCh38: Chr1:25809099	SELENON	A240G, A274G	Eichsfeld type congenital muscular dystrophy, not provided	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203295875.	NM_020451.3(SELENON):c.302-16T>G GRCh37: Chr1:26128491 GRCh38: Chr1:25802000	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 201835076.	NM_020451.3(SELENON):c.184-3C>G GRCh37: Chr1:26127531 GRCh38: Chr1:25801040	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 201658577.	NM_020451.3(SELENON):c.296T>A (p.Leu99Gln) GRCh37: Chr1:26127646 GRCh38: Chr1:25801155	SELENON	L99Q	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 200621578.	NM_020451.3(SELENON):c.108C>T (p.Ala36=) GRCh37: Chr1:26126829 GRCh38: Chr1:25800338	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200160779.	NM_020451.3(SELENON):c.963dup (p.Asp322fs) GRCh37: Chr1:26136261-26136262 GRCh38: Chr1:25809770-25809771	SELENON	D288fs, D322fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 199873080.	NM_020451.3(SELENON):c.184-18G>A GRCh37: Chr1:26127516 GRCh38: Chr1:25801025	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199585681.	NM_020451.3(SELENON):c.30G>C (p.Gly10=) GRCh37: Chr1:26126751 GRCh38: Chr1:25800260	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 199183082.	NM_020451.3(SELENON):c.1011-10G>A GRCh37: Chr1:26137935 GRCh38: Chr1:25811444	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 198985183.	NM_020451.3(SELENON):c.473T>C (p.Ile158Thr) GRCh37: Chr1:26131702 GRCh38: Chr1:25805211	SELENON	I158T, I124T	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 198907284.	NM_020451.3(SELENON):c.747+19C>T GRCh37: Chr1:26135299 GRCh38: Chr1:25808808	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 198620285.	NM_020451.3(SELENON):c.1602+18G>A GRCh37: Chr1:26140687 GRCh38: Chr1:25814196	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 198522086.	NM_020451.3(SELENON):c.271G>A (p.Glu91Lys) GRCh37: Chr1:26127621 GRCh38: Chr1:25801130	SELENON	E91K	Eichsfeld type congenital muscular dystrophy	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 198423387.	NM_020451.3(SELENON):c.301+5C>T GRCh37: Chr1:26127656 GRCh38: Chr1:25801165	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 198190788.	NM_020451.3(SELENON):c.54G>T (p.Ala18=) GRCh37: Chr1:26126775 GRCh38: Chr1:25800284	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 197964389.	NM_020451.3(SELENON):c.1282-3C>T GRCh37: Chr1:26139175 GRCh38: Chr1:25812684	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 197051890.	NM_020451.3(SELENON):c.559G>A (p.Gly187Ser) GRCh37: Chr1:26135092 GRCh38: Chr1:25808601	SELENON	G187S, G153S	not provided, Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 196653491.	NM_020451.3(SELENON):c.872+15C>A GRCh37: Chr1:26135656 GRCh38: Chr1:25809165	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 196338292.	NM_020451.3(SELENON):c.651G>A (p.Leu217=) GRCh37: Chr1:26135184 GRCh38: Chr1:25808693	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 195739593.	NM_020451.3(SELENON):c.748-11G>A GRCh37: Chr1:26135506 GRCh38: Chr1:25809015	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 195436994.	NM_020451.3(SELENON):c.1092+8C>T GRCh37: Chr1:26138034 GRCh38: Chr1:25811543	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 194728595.	NM_020451.3(SELENON):c.538-8C>A GRCh37: Chr1:26135063 GRCh38: Chr1:25808572	SELENON		Eichsfeld type congenital muscular dystrophy	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 193868896.	NM_020451.3(SELENON):c.1299C>T (p.Phe433=) GRCh37: Chr1:26139195 GRCh38: Chr1:25812704	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 192206697.	NM_020451.3(SELENON):c.1269C>T (p.Tyr423=) GRCh37: Chr1:26138358 GRCh38: Chr1:25811867	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 191524498.	NM_020451.3(SELENON):c.1653C>T (p.Pro551=) GRCh37: Chr1:26142089 GRCh38: Chr1:25815598	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 190940199.	NM_020451.3(SELENON):c.1662C>T (p.Ile554=) GRCh37: Chr1:26142098 GRCh38: Chr1:25815607	SELENON		Eichsfeld type congenital muscular dystrophy	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 1704255100.	NM_020451.3(SELENON):c.773del (p.Met258fs) GRCh37: Chr1:26135542 GRCh38: Chr1:25809051	SELENON	M224fs, M258fs	Eichsfeld type congenital muscular dystrophy	Pathogenic (Sep 7, 2022)	no assertion criteria provided

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