ClinVar for MedGen (Select 61231) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 684

<< First< Prev

Page of 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25007851.	NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter) GRCh37: Chr11:71148910 GRCh38: Chr11:71437864	DHCR7	W304*	Smith-Lemli-Opitz syndrome	Pathogenic (May 7, 2021)	criteria provided, single submitter
Select item 24421572.	NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter) GRCh37: Chr11:71155261 GRCh38: Chr11:71444215	DHCR7	W33*	Smith-Lemli-Opitz syndrome	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 24241343.	NC_000011.9:g.(?_71152249)_(71153318_?)del GRCh37: Chr11:71152249-71153318	DHCR7		Smith-Lemli-Opitz syndrome	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 24241334.	NC_000011.9:g.(?_71146674)_(71155299_?)del GRCh37: Chr11:71146674-71155299	DHCR7		Smith-Lemli-Opitz syndrome	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 24241325.	NC_000011.9:g.(?_71148848)_(71148999_?)del GRCh37: Chr11:71148848-71148999	DHCR7		Smith-Lemli-Opitz syndrome	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 24189566.	NM_001360.3(DHCR7):c.330G>A (p.Leu110=) GRCh37: Chr11:71153391 GRCh38: Chr11:71442345	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 22031247.	NM_001360.3(DHCR7):c.488A>G (p.His163Arg) GRCh37: Chr11:71152411 GRCh38: Chr11:71441365	DHCR7	H163R	Smith-Lemli-Opitz syndrome	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 22016128.	NM_001360.3(DHCR7):c.626+3A>G GRCh37: Chr11:71152270 GRCh38: Chr11:71441224	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 22009029.	NM_001360.3(DHCR7):c.804T>C (p.Asn268=) GRCh37: Chr11:71149952 GRCh38: Chr11:71438906	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 219872010.	NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp) GRCh37: Chr11:71150080 GRCh38: Chr11:71439034	DHCR7	N226D	Smith-Lemli-Opitz syndrome	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 219779711.	NM_001360.3(DHCR7):c.230C>T (p.Thr77Ile) GRCh37: Chr11:71155130 GRCh38: Chr11:71444084	DHCR7	T77I	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219761112.	NM_001360.3(DHCR7):c.996G>A (p.Leu332=) GRCh37: Chr11:71146853 GRCh38: Chr11:71435807	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 218897913.	NM_001360.3(DHCR7):c.1172A>C (p.His391Pro) GRCh37: Chr11:71146677 GRCh38: Chr11:71435631	DHCR7	H391P	Smith-Lemli-Opitz syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 218386614.	NM_001360.3(DHCR7):c.1236G>C (p.Leu412=) GRCh37: Chr11:71146613 GRCh38: Chr11:71435567	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 218169615.	NM_001360.3(DHCR7):c.148G>A (p.Ala50Thr) GRCh37: Chr11:71155212 GRCh38: Chr11:71444166	DHCR7	A50T	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217994616.	NM_001360.3(DHCR7):c.475T>C (p.Phe159Leu) GRCh37: Chr11:71152424 GRCh38: Chr11:71441378	DHCR7	F159L	Smith-Lemli-Opitz syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 217446517.	NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys) GRCh37: Chr11:71146501 GRCh38: Chr11:71435455	DHCR7	R450C	Smith-Lemli-Opitz syndrome	Likely pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 217152318.	NM_001360.3(DHCR7):c.964-7C>T GRCh37: Chr11:71146892 GRCh38: Chr11:71435846	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 217128419.	NM_001360.3(DHCR7):c.413-8A>G GRCh37: Chr11:71152494 GRCh38: Chr11:71441448	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 217094620.	NM_001360.3(DHCR7):c.1041C>T (p.Gly347=) GRCh37: Chr11:71146808 GRCh38: Chr11:71435762	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216889821.	NM_001360.3(DHCR7):c.123G>T (p.Ala41=) GRCh37: Chr11:71155237 GRCh38: Chr11:71444191	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 216858822.	NM_001360.3(DHCR7):c.99-12C>T GRCh37: Chr11:71155273 GRCh38: Chr11:71444227	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216402023.	NM_001360.3(DHCR7):c.927C>T (p.Gly309=) GRCh37: Chr11:71148894 GRCh38: Chr11:71437848	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 216189024.	NM_001360.3(DHCR7):c.99-19C>A GRCh37: Chr11:71155280 GRCh38: Chr11:71444234	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 216149225.	NM_001360.3(DHCR7):c.964-7C>A GRCh37: Chr11:71146892 GRCh38: Chr11:71435846	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 216042526.	NM_001360.3(DHCR7):c.658A>G (p.Met220Val) GRCh37: Chr11:71150098 GRCh38: Chr11:71439052	DHCR7	M220V	Smith-Lemli-Opitz syndrome	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 215683227.	NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser) GRCh37: Chr11:71152460-71152461 GRCh38: Chr11:71441414-71441415	DHCR7	G147S	Smith-Lemli-Opitz syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 215681828.	NM_001360.3(DHCR7):c.496T>G (p.Ser166Ala) GRCh37: Chr11:71152403 GRCh38: Chr11:71441357	DHCR7	S166A	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 215674629.	NM_001360.3(DHCR7):c.1230C>T (p.Gly410=) GRCh37: Chr11:71146619 GRCh38: Chr11:71435573	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 215303730.	NM_001360.3(DHCR7):c.249G>A (p.Ser83=) GRCh37: Chr11:71155111 GRCh38: Chr11:71444065	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215292331.	NM_001360.3(DHCR7):c.353G>A (p.Cys118Tyr) GRCh37: Chr11:71153368 GRCh38: Chr11:71442322	DHCR7	C118Y	Smith-Lemli-Opitz syndrome	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 215125832.	NM_001360.3(DHCR7):c.121G>C (p.Ala41Pro) GRCh37: Chr11:71155239 GRCh38: Chr11:71444193	DHCR7	A41P	Smith-Lemli-Opitz syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 214980833.	NM_001360.3(DHCR7):c.626+17G>A GRCh37: Chr11:71152256 GRCh38: Chr11:71441210	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 214923434.	NM_001360.3(DHCR7):c.952T>C (p.Tyr318His) GRCh37: Chr11:71148869 GRCh38: Chr11:71437823	DHCR7	Y318H	Smith-Lemli-Opitz syndrome	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 214531135.	NM_001360.3(DHCR7):c.687C>T (p.Ile229=) GRCh37: Chr11:71150069 GRCh38: Chr11:71439023	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 214344036.	NM_001360.3(DHCR7):c.1001C>T (p.Thr334Ile) GRCh37: Chr11:71146848 GRCh38: Chr11:71435802	DHCR7	T334I	Smith-Lemli-Opitz syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214047737.	NM_001360.3(DHCR7):c.14C>G (p.Ser5Trp) GRCh37: Chr11:71155985 GRCh38: Chr11:71444939	DHCR7	S5W	Smith-Lemli-Opitz syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 213719438.	NM_001360.3(DHCR7):c.533T>A (p.Ile178Asn) GRCh37: Chr11:71152366 GRCh38: Chr11:71441320	DHCR7	I178N	Smith-Lemli-Opitz syndrome	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 213719339.	NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln) GRCh37: Chr11:71150073 GRCh38: Chr11:71439027	DHCR7	R228Q	Smith-Lemli-Opitz syndrome	Likely pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 213719240.	NM_001360.3(DHCR7):c.720_735del (p.Asn240fs) GRCh37: Chr11:71150021-71150036 GRCh38: Chr11:71438975-71438990	DHCR7	N240fs	Smith-Lemli-Opitz syndrome	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 213719141.	NM_001360.3(DHCR7):c.818T>G (p.Val273Gly) GRCh37: Chr11:71149938 GRCh38: Chr11:71438892	DHCR7	V273G	not specified, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (May 30, 2023)	criteria provided, conflicting interpretations
Select item 213719042.	NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del) GRCh37: Chr11:71148965-71148967 GRCh38: Chr11:71437919-71437921	DHCR7	F285del	Smith-Lemli-Opitz syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 213718943.	NM_001360.3(DHCR7):c.1039G>A (p.Gly347Ser) GRCh37: Chr11:71146810 GRCh38: Chr11:71435764	DHCR7	G347S	Smith-Lemli-Opitz syndrome	Pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 213718844.	NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala) GRCh37: Chr11:71146452 GRCh38: Chr11:71435406	DHCR7	V466A	Smith-Lemli-Opitz syndrome	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 213533745.	NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter) GRCh37: Chr11:71146736 GRCh38: Chr11:71435690	DHCR7	W371*	Smith-Lemli-Opitz syndrome	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 212949046.	NM_001360.3(DHCR7):c.942G>A (p.Leu314=) GRCh37: Chr11:71148879 GRCh38: Chr11:71437833	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212783347.	NM_001360.3(DHCR7):c.1359C>T (p.Ser453=) GRCh37: Chr11:71146490 GRCh38: Chr11:71435444	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212404148.	NM_001360.3(DHCR7):c.108C>T (p.Asp36=) GRCh37: Chr11:71155252 GRCh38: Chr11:71444206	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212348949.	NM_001360.3(DHCR7):c.1176C>T (p.Ser392=) GRCh37: Chr11:71146673 GRCh38: Chr11:71435627	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 211950350.	NM_001360.3(DHCR7):c.415G>C (p.Val139Leu) GRCh37: Chr11:71152484 GRCh38: Chr11:71441438	DHCR7	V139L	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 211934251.	NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys) GRCh37: Chr11:71146464 GRCh38: Chr11:71435418	DHCR7	Y462C	Smith-Lemli-Opitz syndrome	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 211725552.	NM_001360.3(DHCR7):c.297C>T (p.Leu99=) GRCh37: Chr11:71155063 GRCh38: Chr11:71444017	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211406253.	NM_001360.3(DHCR7):c.105G>A (p.Val35=) GRCh37: Chr11:71155255 GRCh38: Chr11:71444209	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 211394054.	NM_001360.3(DHCR7):c.825C>T (p.Val275=) GRCh37: Chr11:71149931 GRCh38: Chr11:71438885	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 211357255.	NM_001360.3(DHCR7):c.412+2T>C GRCh37: Chr11:71153307 GRCh38: Chr11:71442261	DHCR7		Smith-Lemli-Opitz syndrome	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 210931656.	NM_001360.3(DHCR7):c.717C>T (p.Phe239=) GRCh37: Chr11:71150039 GRCh38: Chr11:71438993	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210808757.	NM_001360.3(DHCR7):c.1012del (p.Val338fs) GRCh37: Chr11:71146837 GRCh38: Chr11:71435791	DHCR7	V338fs	Smith-Lemli-Opitz syndrome	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 210538258.	NM_001360.3(DHCR7):c.299A>G (p.Tyr100Cys) GRCh37: Chr11:71155061 GRCh38: Chr11:71444015	DHCR7	Y100C	Smith-Lemli-Opitz syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 210408459.	NM_001360.3(DHCR7):c.636A>T (p.Thr212=) GRCh37: Chr11:71150120 GRCh38: Chr11:71439074	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 210301660.	NM_001360.3(DHCR7):c.646T>G (p.Phe216Val) GRCh37: Chr11:71150110 GRCh38: Chr11:71439064	DHCR7	F216V	Smith-Lemli-Opitz syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 209811161.	NM_001360.3(DHCR7):c.1214del (p.His405fs) GRCh37: Chr11:71146635 GRCh38: Chr11:71435589	DHCR7	H405fs	Smith-Lemli-Opitz syndrome	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 209399962.	NM_001360.3(DHCR7):c.1215C>G (p.His405Gln) GRCh37: Chr11:71146634 GRCh38: Chr11:71435588	DHCR7	H405Q	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 208387663.	NM_001360.3(DHCR7):c.832-20C>T GRCh37: Chr11:71149009 GRCh38: Chr11:71437963	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 208250064.	NM_001360.3(DHCR7):c.1004C>T (p.Pro335Leu) GRCh37: Chr11:71146845 GRCh38: Chr11:71435799	DHCR7	P335L	Smith-Lemli-Opitz syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 207197865.	NM_001360.3(DHCR7):c.835A>G (p.Ile279Val) GRCh37: Chr11:71148986 GRCh38: Chr11:71437940	DHCR7	I279V	Smith-Lemli-Opitz syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 206911666.	NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn) GRCh37: Chr11:71148893 GRCh38: Chr11:71437847	DHCR7	D310N	Smith-Lemli-Opitz syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206639867.	NM_001360.3(DHCR7):c.1204G>A (p.Val402Met) GRCh37: Chr11:71146645 GRCh38: Chr11:71435599	DHCR7	V402M	Smith-Lemli-Opitz syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 206317068.	NM_001360.3(DHCR7):c.98+19C>T GRCh37: Chr11:71155882 GRCh38: Chr11:71444836	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 205563869.	NM_001360.3(DHCR7):c.1212C>T (p.Arg404=) GRCh37: Chr11:71146637 GRCh38: Chr11:71435591	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205537270.	NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln) GRCh37: Chr11:71149977 GRCh38: Chr11:71438931	DHCR7	R260Q	Smith-Lemli-Opitz syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 205375771.	NM_001360.3(DHCR7):c.849C>T (p.Asp283=) GRCh37: Chr11:71148972 GRCh38: Chr11:71437926	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 205276072.	NM_001360.3(DHCR7):c.327T>C (p.Leu109=) GRCh37: Chr11:71153394 GRCh38: Chr11:71442348	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 204452173.	NM_001360.3(DHCR7):c.1156G>C (p.Asp386His) GRCh37: Chr11:71146693 GRCh38: Chr11:71435647	DHCR7	D386H	Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 204310174.	NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly) GRCh37: Chr11:71146470 GRCh38: Chr11:71435424	DHCR7	E460G	Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204254175.	NM_001360.3(DHCR7):c.220G>A (p.Asp74Asn) GRCh37: Chr11:71155140 GRCh38: Chr11:71444094	DHCR7	D74N	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 203610576.	NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro) GRCh37: Chr11:71150031 GRCh38: Chr11:71438985	DHCR7	R242P	Smith-Lemli-Opitz syndrome	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 203553977.	NM_001360.3(DHCR7):c.1107C>T (p.Leu369=) GRCh37: Chr11:71146742 GRCh38: Chr11:71435696	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203463478.	NM_001360.3(DHCR7):c.1194C>T (p.Gly398=) GRCh37: Chr11:71146655 GRCh38: Chr11:71435609	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203423479.	NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys) GRCh37: Chr11:71152353 GRCh38: Chr11:71441307	DHCR7	W182C	Smith-Lemli-Opitz syndrome	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 203042980.	NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter) GRCh37: Chr11:71152425 GRCh38: Chr11:71441379	DHCR7	W158*	Smith-Lemli-Opitz syndrome	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 202873981.	NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser) GRCh37: Chr11:71146456 GRCh38: Chr11:71435410	DHCR7	A465S	Smith-Lemli-Opitz syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 202773882.	NM_001360.3(DHCR7):c.626+2del GRCh37: Chr11:71152271 GRCh38: Chr11:71441225	DHCR7		Smith-Lemli-Opitz syndrome	Likely pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 201670483.	NM_001360.3(DHCR7):c.1047C>T (p.Tyr349=) GRCh37: Chr11:71146802 GRCh38: Chr11:71435756	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201570084.	NM_001360.3(DHCR7):c.99-8C>T GRCh37: Chr11:71155269 GRCh38: Chr11:71444223	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 200570185.	NM_001360.3(DHCR7):c.964-5C>G GRCh37: Chr11:71146890 GRCh38: Chr11:71435844	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200286486.	NM_001360.3(DHCR7):c.832-7C>T GRCh37: Chr11:71148996 GRCh38: Chr11:71437950	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199961287.	NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter) GRCh37: Chr11:71146445 GRCh38: Chr11:71435399	DHCR7	Y468*	Smith-Lemli-Opitz syndrome	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 199817488.	NM_001360.3(DHCR7):c.33A>G (p.Lys11=) GRCh37: Chr11:71155966 GRCh38: Chr11:71444920	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 198852689.	NM_001360.3(DHCR7):c.98+12G>T GRCh37: Chr11:71155889 GRCh38: Chr11:71444843	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 198710390.	NM_001360.3(DHCR7):c.99-4G>T GRCh37: Chr11:71155265 GRCh38: Chr11:71444219	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 198473991.	NM_001360.3(DHCR7):c.609C>T (p.Pro203=) GRCh37: Chr11:71152290 GRCh38: Chr11:71441244	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 198407692.	NM_001360.3(DHCR7):c.1040G>T (p.Gly347Val) GRCh37: Chr11:71146809 GRCh38: Chr11:71435763	DHCR7	G347V	Smith-Lemli-Opitz syndrome	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 198322693.	NM_001360.3(DHCR7):c.711G>T (p.Leu237=) GRCh37: Chr11:71150045 GRCh38: Chr11:71438999	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 196943894.	NM_001360.3(DHCR7):c.612C>T (p.Thr204=) GRCh37: Chr11:71152287 GRCh38: Chr11:71441241	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 196907595.	NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly) GRCh37: Chr11:71146476 GRCh38: Chr11:71435430	DHCR7	D458G	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 196863696.	NM_001360.3(DHCR7):c.322-18G>T GRCh37: Chr11:71153417 GRCh38: Chr11:71442371	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 196021297.	NM_001360.3(DHCR7):c.412+8C>T GRCh37: Chr11:71153301 GRCh38: Chr11:71442255	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 194969598.	NM_001360.3(DHCR7):c.48_78del (p.Asp16fs) GRCh37: Chr11:71155921-71155951 GRCh38: Chr11:71444875-71444905	DHCR7	D16fs	Smith-Lemli-Opitz syndrome	Pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 194592199.	NM_001360.3(DHCR7):c.378A>G (p.Val126=) GRCh37: Chr11:71153343 GRCh38: Chr11:71442297	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 1938356100.	NM_001360.3(DHCR7):c.192C>T (p.Tyr64=) GRCh37: Chr11:71155168 GRCh38: Chr11:71444122	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter

<< First< Prev

Page of 7