ClinVar for MedGen (Select 482428) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25012231.	NM_016938.5(EFEMP2):c.-7-1_-7delinsAT GRCh37: Chr11:65639832-65639833 GRCh38: Chr11:65872361-65872362	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely pathogenic (Mar 22, 2023)	criteria provided, single submitter
Select item 25000252.	NM_016938.5(EFEMP2):c.726T>C (p.Ser242=) GRCh37: Chr11:65637329 GRCh38: Chr11:65869858	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 24411823.	NM_016938.5(EFEMP2):c.975-5T>G GRCh37: Chr11:65635532 GRCh38: Chr11:65868061	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 7, 2021)	criteria provided, single submitter
Select item 24302414.	NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys) GRCh37: Chr11:65638748 GRCh38: Chr11:65871277	EFEMP2	R83C	Cutis laxa, autosomal recessive, type 1B	Likely pathogenic	criteria provided, single submitter
Select item 24202985.	NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=) GRCh37: Chr11:65634419 GRCh38: Chr11:65866948	EFEMP2, MUS81		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 24182676.	NM_016938.5(EFEMP2):c.969T>C (p.Ser323=) GRCh37: Chr11:65635771 GRCh38: Chr11:65868300	EFEMP2		Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Likely benign (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24170967.	NM_016938.5(EFEMP2):c.727+19C>G GRCh37: Chr11:65637309 GRCh38: Chr11:65869838	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 21998518.	NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=) GRCh37: Chr11:65635410 GRCh38: Chr11:65867939	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 21996299.	NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr) GRCh37: Chr11:65638679 GRCh38: Chr11:65871208	EFEMP2	P106T	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 219781410.	NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=) GRCh37: Chr11:65635353 GRCh38: Chr11:65867882	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 219346311.	NM_016938.5(EFEMP2):c.6C>T (p.Leu2=) GRCh37: Chr11:65639820 GRCh38: Chr11:65872349	EFEMP2		Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Likely benign (Mar 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217976512.	NM_016938.5(EFEMP2):c.1210C>A (p.Pro404Thr) GRCh37: Chr11:65634511 GRCh38: Chr11:65867040	EFEMP2, MUS81	P404T	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 217689513.	NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His) GRCh37: Chr11:65635340 GRCh38: Chr11:65867869	EFEMP2	Y388H	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 216487614.	NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=) GRCh37: Chr11:65635392 GRCh38: Chr11:65867921	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 216447215.	NM_016938.5(EFEMP2):c.455C>A (p.Pro152His) GRCh37: Chr11:65638042 GRCh38: Chr11:65870571	EFEMP2	P152H	Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype	Uncertain significance (Jul 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216043816.	NM_016938.5(EFEMP2):c.975-12C>T GRCh37: Chr11:65635539 GRCh38: Chr11:65868068	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 215760517.	NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=) GRCh37: Chr11:65634503 GRCh38: Chr11:65867032	EFEMP2, MUS81		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 215690318.	NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys) GRCh37: Chr11:65637415 GRCh38: Chr11:65869944	EFEMP2	E214K	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 215655719.	NM_016938.5(EFEMP2):c.270C>T (p.Asp90=) GRCh37: Chr11:65638725 GRCh38: Chr11:65871254	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215526420.	NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser) GRCh37: Chr11:65637388 GRCh38: Chr11:65869917	EFEMP2	T223S	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 212265921.	NM_016938.5(EFEMP2):c.161-6C>T GRCh37: Chr11:65638840 GRCh38: Chr11:65871369	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 210857822.	NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln) GRCh37: Chr11:65638016 GRCh38: Chr11:65870545	EFEMP2	E161Q	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210475123.	NM_016938.5(EFEMP2):c.491-13C>G GRCh37: Chr11:65637721 GRCh38: Chr11:65870250	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 207872724.	NM_016938.5(EFEMP2):c.111+19G>A GRCh37: Chr11:65639696 GRCh38: Chr11:65872225	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 207439625.	NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=) GRCh37: Chr11:65638770 GRCh38: Chr11:65871299	EFEMP2		Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206794426.	NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp) GRCh37: Chr11:65637664 GRCh38: Chr11:65870193	EFEMP2	N179D	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206751227.	NM_016938.5(EFEMP2):c.859dup (p.Cys287fs) GRCh37: Chr11:65635880-65635881 GRCh38: Chr11:65868409-65868410	EFEMP2	C287fs	Cutis laxa, autosomal recessive, type 1B	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 206158328.	NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal) GRCh37: Chr11:65635789-65635790 GRCh38: Chr11:65868318-65868319	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 205775129.	NM_016938.5(EFEMP2):c.291G>A (p.Pro97=) GRCh37: Chr11:65638704 GRCh38: Chr11:65871233	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 204664530.	NM_016938.5(EFEMP2):c.608-5_608-4delinsAG GRCh37: Chr11:65637451-65637452 GRCh38: Chr11:65869980-65869981	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 204474531.	NM_016938.5(EFEMP2):c.848-15T>C GRCh37: Chr11:65635907 GRCh38: Chr11:65868436	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204336632.	NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn) GRCh37: Chr11:65639726 GRCh38: Chr11:65872255	EFEMP2	D34N	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 204316033.	NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser) GRCh37: Chr11:65639819 GRCh38: Chr11:65872348	EFEMP2	P3S	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 203758934.	NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr) GRCh37: Chr11:65634517 GRCh38: Chr11:65867046	MUS81, EFEMP2	A402T	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 203384735.	NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=) GRCh37: Chr11:65635335 GRCh38: Chr11:65867864	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 203213336.	NM_016938.5(EFEMP2):c.160+7G>T GRCh37: Chr11:65639434 GRCh38: Chr11:65871963	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202056337.	NM_016938.5(EFEMP2):c.848-1_850del GRCh37: Chr11:65635890-65635893 GRCh38: Chr11:65868419-65868422	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 201782338.	NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=) GRCh37: Chr11:65635419 GRCh38: Chr11:65867948	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 201773739.	NM_016938.5(EFEMP2):c.490+16A>G GRCh37: Chr11:65637991 GRCh38: Chr11:65870520	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 199887740.	NM_016938.5(EFEMP2):c.1080G>C (p.Val360=) GRCh37: Chr11:65635422 GRCh38: Chr11:65867951	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199722741.	NM_016938.5(EFEMP2):c.450C>T (p.Thr150=) GRCh37: Chr11:65638047 GRCh38: Chr11:65870576	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 199301342.	NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile) GRCh37: Chr11:65637428 GRCh38: Chr11:65869957	EFEMP2	M209I	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 197604643.	NM_016938.5(EFEMP2):c.1228G>C (p.Glu410Gln) GRCh37: Chr11:65634493 GRCh38: Chr11:65867022	MUS81, EFEMP2	E410Q	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 197506144.	NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile) GRCh37: Chr11:65637387 GRCh38: Chr11:65869916	EFEMP2	T223I	Cutis laxa, autosomal recessive, type 1B, Inborn genetic diseases	Uncertain significance (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197276645.	NM_016938.5(EFEMP2):c.848-9C>T GRCh37: Chr11:65635901 GRCh38: Chr11:65868430	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 193763646.	NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr) GRCh37: Chr11:65638076 GRCh38: Chr11:65870605	EFEMP2	H141Y	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 191012047.	NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp) GRCh37: Chr11:65635442 GRCh38: Chr11:65867971	EFEMP2	R354W	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 180544248.	NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del) GRCh37: Chr11:65636091-65636093 GRCh38: Chr11:65868620-65868622	EFEMP2	D245del	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 176998849.	NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn) GRCh37: Chr11:65634396 GRCh38: Chr11:65866925	EFEMP2, MUS81	T442N	Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176629550.	NM_016938.5(EFEMP2):c.923G>A (p.Arg308His) GRCh37: Chr11:65635817 GRCh38: Chr11:65868346	EFEMP2	R308H	Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174199051.	NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del) GRCh37: Chr11:65634539-65634541 GRCh38: Chr11:65867068-65867070	EFEMP2, MUS81	N394del	Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173795952.	NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu) GRCh37: Chr11:65635337 GRCh38: Chr11:65867866	EFEMP2	I389L	Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171594653.	NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro) GRCh37: Chr11:65635379 GRCh38: Chr11:65867908	EFEMP2	A375P	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 166808954.	NM_016938.5(EFEMP2):c.538C>T (p.Leu180=) GRCh37: Chr11:65637661 GRCh38: Chr11:65870190	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jun 16, 2021)	criteria provided, single submitter
Select item 166262455.	NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=) GRCh37: Chr11:65635488 GRCh38: Chr11:65868017	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 1, 2021)	criteria provided, single submitter
Select item 164466656.	NM_016938.5(EFEMP2):c.618G>A (p.Glu206=) GRCh37: Chr11:65637437 GRCh38: Chr11:65869966	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Nov 10, 2020)	criteria provided, single submitter
Select item 164213157.	NM_016938.5(EFEMP2):c.423T>C (p.His141=) GRCh37: Chr11:65638074 GRCh38: Chr11:65870603	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jan 3, 2021)	criteria provided, single submitter
Select item 164118058.	NM_016938.5(EFEMP2):c.1171-19C>T GRCh37: Chr11:65634569 GRCh38: Chr11:65867098	EFEMP2, MUS81		Cutis laxa, autosomal recessive, type 1B	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 163802459.	NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=) GRCh37: Chr11:65635341 GRCh38: Chr11:65867870	EFEMP2		Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype	Likely benign (Sep 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 163015360.	NM_016938.5(EFEMP2):c.848-16C>T GRCh37: Chr11:65635908 GRCh38: Chr11:65868437	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Benign (Apr 24, 2022)	criteria provided, single submitter
Select item 163010361.	NM_016938.5(EFEMP2):c.975-11G>A GRCh37: Chr11:65635538 GRCh38: Chr11:65868067	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 162495162.	NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=) GRCh37: Chr11:65635499 GRCh38: Chr11:65868028	EFEMP2		Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Likely benign (Sep 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 162419763.	NM_016938.5(EFEMP2):c.600C>A (p.Ser200=) GRCh37: Chr11:65637599 GRCh38: Chr11:65870128	EFEMP2		Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Likely benign (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161772264.	NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=) GRCh37: Chr11:65634500 GRCh38: Chr11:65867029	MUS81, EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 161671665.	NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=) GRCh37: Chr11:65634416 GRCh38: Chr11:65866945	EFEMP2, MUS81		Cutis laxa, autosomal recessive, type 1B	Likely benign (Feb 19, 2021)	criteria provided, single submitter
Select item 161417466.	NM_016938.5(EFEMP2):c.728-11T>C GRCh37: Chr11:65636111 GRCh38: Chr11:65868640	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 161174467.	NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=) GRCh37: Chr11:65635491 GRCh38: Chr11:65868020	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 160944668.	NM_016938.5(EFEMP2):c.368-13del GRCh37: Chr11:65638142 GRCh38: Chr11:65870671	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 160550269.	NM_016938.5(EFEMP2):c.974+12C>T GRCh37: Chr11:65635754 GRCh38: Chr11:65868283	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 160337870.	NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=) GRCh37: Chr11:65634416 GRCh38: Chr11:65866945	EFEMP2, MUS81		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 159740971.	NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=) GRCh37: Chr11:65635425 GRCh38: Chr11:65867954	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Apr 12, 2021)	criteria provided, single submitter
Select item 159526472.	NM_016938.5(EFEMP2):c.345C>T (p.Pro115=) GRCh37: Chr11:65638650 GRCh38: Chr11:65871179	EFEMP2		Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype	Likely benign (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159488273.	NM_016938.5(EFEMP2):c.847+13C>T GRCh37: Chr11:65635968 GRCh38: Chr11:65868497	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 159256574.	NM_016938.5(EFEMP2):c.847+20G>A GRCh37: Chr11:65635961 GRCh38: Chr11:65868490	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 2, 2021)	criteria provided, single submitter
Select item 159102075.	NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=) GRCh37: Chr11:65635476 GRCh38: Chr11:65868005	EFEMP2		Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype, not specified	Likely benign (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159046376.	NM_016938.5(EFEMP2):c.607+18C>A GRCh37: Chr11:65637574 GRCh38: Chr11:65870103	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 158767077.	NM_016938.5(EFEMP2):c.168C>T (p.Asn56=) GRCh37: Chr11:65638827 GRCh38: Chr11:65871356	EFEMP2		Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype	Likely benign (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158358378.	NM_016938.5(EFEMP2):c.252C>T (p.Ser84=) GRCh37: Chr11:65638743 GRCh38: Chr11:65871272	EFEMP2		Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Likely benign (Sep 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 157974679.	NM_016938.5(EFEMP2):c.160+20C>T GRCh37: Chr11:65639421 GRCh38: Chr11:65871950	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 157898780.	NM_016938.5(EFEMP2):c.1170+13C>T GRCh37: Chr11:65635319 GRCh38: Chr11:65867848	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 157401581.	NM_016938.5(EFEMP2):c.848-11C>T GRCh37: Chr11:65635903 GRCh38: Chr11:65868432	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 154697182.	NM_016938.5(EFEMP2):c.111+17C>G GRCh37: Chr11:65639698 GRCh38: Chr11:65872227	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 152158583.	NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr) GRCh37: Chr11:65637429 GRCh38: Chr11:65869958	EFEMP2	M209T	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 151447684.	NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met) GRCh37: Chr11:65634487 GRCh38: Chr11:65867016	EFEMP2, MUS81	V412M	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 150397885.	NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn) GRCh37: Chr11:65638640 GRCh38: Chr11:65871169	EFEMP2	D119N	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 149689786.	NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu) GRCh37: Chr11:65634538 GRCh38: Chr11:65867067	EFEMP2, MUS81	V395L	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149390287.	NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn) GRCh37: Chr11:65635809 GRCh38: Chr11:65868338	EFEMP2	D311N	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 149379288.	NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp) GRCh37: Chr11:65634496 GRCh38: Chr11:65867025	EFEMP2, MUS81	R409W	Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype, not provided	Uncertain significance (Jun 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149095889.	NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) GRCh37: Chr11:65637706 GRCh38: Chr11:65870235	EFEMP2	I165V	Cutis laxa, autosomal recessive, type 1B, Cardiovascular phenotype	Uncertain significance (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 147284790.	NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) GRCh37: Chr11:65635492 GRCh38: Chr11:65868021	EFEMP2	R337Q	Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144518691.	NM_016938.5(EFEMP2):c.404G>A (p.Arg135His) GRCh37: Chr11:65638093 GRCh38: Chr11:65870622	EFEMP2	R135H	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 144328392.	NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser) GRCh37: Chr11:65638691 GRCh38: Chr11:65871220	EFEMP2	P102S	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 143956393.	NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys) GRCh37: Chr11:65639794 GRCh38: Chr11:65872323	EFEMP2	S11C	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 15, 2021)	criteria provided, single submitter
Select item 143469094.	NM_016938.5(EFEMP2):c.111+4_111+12del GRCh37: Chr11:65639703-65639711 GRCh38: Chr11:65872232-65872240	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 143379895.	NC_000011.9:g.(?_65634389)_(65639825_?)dup GRCh37: Chr11:65634389-65639825	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Mar 17, 2021)	criteria provided, single submitter
Select item 141968996.	NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val) GRCh37: Chr11:65635408 GRCh38: Chr11:65867937	EFEMP2	A365V	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 141303597.	NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala) GRCh37: Chr11:65639729 GRCh38: Chr11:65872258	EFEMP2	P33A	Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 138168798.	NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) GRCh37: Chr11:65635776 GRCh38: Chr11:65868305	EFEMP2	V322F	Cardiovascular phenotype, Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137081699.	NM_016938.5(EFEMP2):c.160+17G>T GRCh37: Chr11:65639424 GRCh38: Chr11:65871953	EFEMP2		Cutis laxa, autosomal recessive, type 1B	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 1332750100.	NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr) GRCh37: Chr3:81627235 GRCh38: Chr3:81578084	GBE1	D487Y	Cutis laxa, autosomal recessive, type 1B	Likely pathogenic	criteria provided, single submitter

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