ClinVar for MedGen (Select 301647) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 170

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023021.	NM_020436.5(SALL4):c.2456dup (p.Met819fs) GRCh37: Chr20:50406565-50406566 GRCh38: Chr20:51790026-51790027	SALL4	M819fs	Duane-radial ray syndrome	Pathogenic	criteria provided, single submitter
Select item 24265522.	NC_000020.10:g.(?_50400804)_(50401243_?)del GRCh37: Chr20:50400804-50401243	SALL4		Duane-radial ray syndrome	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 24258423.	NM_020436.5(SALL4):c.531C>T (p.Ala177=) GRCh37: Chr20:50408491 GRCh38: Chr20:51791952	SALL4		Duane-radial ray syndrome	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 24144724.	NM_020436.5(SALL4):c.1125C>T (p.Asp375=) GRCh37: Chr20:50407897 GRCh38: Chr20:51791358	SALL4		Duane-radial ray syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 24127805.	NM_020436.5(SALL4):c.1625del (p.Pro542fs) GRCh37: Chr20:50407397 GRCh38: Chr20:51790858	SALL4	P542fs	Duane-radial ray syndrome	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 22014646.	NM_020436.5(SALL4):c.2462-13C>T GRCh37: Chr20:50405693 GRCh38: Chr20:51789154	SALL4		Duane-radial ray syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 21981677.	NM_020436.5(SALL4):c.213G>A (p.Thr71=) GRCh37: Chr20:50408809 GRCh38: Chr20:51792270	SALL4		Duane-radial ray syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 21970408.	NM_020436.5(SALL4):c.1698C>T (p.Asn566=) GRCh37: Chr20:50407324 GRCh38: Chr20:51790785	SALL4		Duane-radial ray syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 21942369.	NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys) GRCh37: Chr20:50407266 GRCh38: Chr20:51790727	SALL4	R586C	Duane-radial ray syndrome	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 219097610.	NM_020436.5(SALL4):c.540_541inv (p.Val181Met) GRCh37: Chr20:50408481-50408482 GRCh38: Chr20:51791942-51791943	SALL4	V181M	Duane-radial ray syndrome	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 218860311.	NM_020436.5(SALL4):c.159C>T (p.Asp53=) GRCh37: Chr20:50408863 GRCh38: Chr20:51792324	SALL4		Duane-radial ray syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 215382112.	NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys) GRCh37: Chr20:50406789 GRCh38: Chr20:51790250	SALL4	R745C	Inborn genetic diseases, Duane-radial ray syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215072613.	NM_020436.5(SALL4):c.599C>T (p.Ala200Val) GRCh37: Chr20:50408423 GRCh38: Chr20:51791884	SALL4	A200V	Duane-radial ray syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 214713114.	NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn) GRCh37: Chr20:50406948 GRCh38: Chr20:51790409	SALL4	D692N	Duane-radial ray syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 214351015.	NM_020436.5(SALL4):c.2163G>A (p.Thr721=) GRCh37: Chr20:50406859 GRCh38: Chr20:51790320	SALL4		Duane-radial ray syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 213821616.	NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys) GRCh37: Chr20:50407692 GRCh38: Chr20:51791153	SALL4	E444K	Duane-radial ray syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 209996817.	NM_020436.5(SALL4):c.575C>A (p.Ala192Glu) GRCh37: Chr20:50408447 GRCh38: Chr20:51791908	SALL4	A192E	Duane-radial ray syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 208781818.	NM_020436.5(SALL4):c.474_475del (p.Glu158fs) GRCh37: Chr20:50408547-50408548 GRCh38: Chr20:51792008-51792009	SALL4	E158fs	Duane-radial ray syndrome	Pathogenic (Jul 3, 2022)	criteria provided, single submitter
Select item 208609419.	NM_020436.5(SALL4):c.2743-3T>C GRCh37: Chr20:50401226 GRCh38: Chr20:51784687	SALL4		Duane-radial ray syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 208169220.	NM_020436.5(SALL4):c.485C>T (p.Pro162Leu) GRCh37: Chr20:50408537 GRCh38: Chr20:51791998	SALL4	P162L	Duane-radial ray syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 207674621.	NM_020436.5(SALL4):c.588G>A (p.Arg196=) GRCh37: Chr20:50408434 GRCh38: Chr20:51791895	SALL4		Duane-radial ray syndrome	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 206245222.	NM_020436.5(SALL4):c.596A>G (p.Asp199Gly) GRCh37: Chr20:50408426 GRCh38: Chr20:51791887	SALL4	D199G	Duane-radial ray syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 206135323.	NM_020436.5(SALL4):c.526G>A (p.Val176Met) GRCh37: Chr20:50408496 GRCh38: Chr20:51791957	SALL4	V176M	not specified, Duane-radial ray syndrome	Uncertain significance (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205623724.	NM_020436.5(SALL4):c.2743-5C>T GRCh37: Chr20:50401228 GRCh38: Chr20:51784689	SALL4		Duane-radial ray syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 205317825.	NM_020436.5(SALL4):c.2742+16C>T GRCh37: Chr20:50405384 GRCh38: Chr20:51788845	SALL4		Duane-radial ray syndrome	Benign (May 4, 2022)	criteria provided, single submitter
Select item 204307826.	NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys) GRCh37: Chr20:50407818 GRCh38: Chr20:51791279	SALL4	R402C	Duane-radial ray syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 204004027.	NM_020436.5(SALL4):c.339A>G (p.Glu113=) GRCh37: Chr20:50408683 GRCh38: Chr20:51792144	SALL4		Duane-radial ray syndrome	Benign (Jul 6, 2022)	criteria provided, single submitter
Select item 203823728.	NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu) GRCh37: Chr20:50407550 GRCh38: Chr20:51791011	SALL4	S491L	Duane-radial ray syndrome	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 203546329.	NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter) GRCh37: Chr20:50407550 GRCh38: Chr20:51791011	SALL4	S491*	Duane-radial ray syndrome	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 202471730.	NM_020436.5(SALL4):c.2872C>T (p.Leu958=) GRCh37: Chr20:50401094 GRCh38: Chr20:51784555	SALL4		Duane-radial ray syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 201901931.	NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu) GRCh37: Chr20:50407892 GRCh38: Chr20:51791353	SALL4	A377E	Duane-radial ray syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 201546032.	NM_020436.5(SALL4):c.2280dup (p.Asn761fs) GRCh37: Chr20:50406741-50406742 GRCh38: Chr20:51790202-51790203	SALL4	N761fs	Duane-radial ray syndrome	Pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 201217833.	NM_020436.5(SALL4):c.31C>T (p.His11Tyr) GRCh37: Chr20:50418917 GRCh38: Chr20:51802378	SALL4	H11Y	Duane-radial ray syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 201217634.	NM_020436.5(SALL4):c.33C>T (p.His11=) GRCh37: Chr20:50418915 GRCh38: Chr20:51802376	SALL4		Duane-radial ray syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 199872535.	NM_020436.5(SALL4):c.1660T>C (p.Leu554=) GRCh37: Chr20:50407362 GRCh38: Chr20:51790823	SALL4		Duane-radial ray syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 198847736.	NM_020436.5(SALL4):c.853T>C (p.Ser285Pro) GRCh37: Chr20:50408169 GRCh38: Chr20:51791630	SALL4	S285P	Duane-radial ray syndrome	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 198009237.	NM_020436.5(SALL4):c.1209C>T (p.Ser403=) GRCh37: Chr20:50407813 GRCh38: Chr20:51791274	SALL4		Duane-radial ray syndrome	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 197205738.	NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del) GRCh37: Chr20:50407335-50407343 GRCh38: Chr20:51790796-51790804	SALL4		Duane-radial ray syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 195708939.	NM_020436.5(SALL4):c.122G>A (p.Gly41Glu) GRCh37: Chr20:50418826 GRCh38: Chr20:51802287	SALL4	G41E	Duane-radial ray syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 195514340.	NM_020436.5(SALL4):c.3030C>T (p.Asn1010=) GRCh37: Chr20:50400936 GRCh38: Chr20:51784397	SALL4		Duane-radial ray syndrome	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 195418341.	NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr) GRCh37: Chr20:50407943 GRCh38: Chr20:51791404	SALL4	K360T	Duane-radial ray syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 195207942.	NM_020436.5(SALL4):c.770T>G (p.Leu257Arg) GRCh37: Chr20:50408252 GRCh38: Chr20:51791713	SALL4	L257R	Duane-radial ray syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 194842743.	NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro) GRCh37: Chr20:50407713 GRCh38: Chr20:51791174	SALL4	A437P	Duane-radial ray syndrome	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 192647544.	NM_020436.5(SALL4):c.891C>T (p.Ala297=) GRCh37: Chr20:50408131 GRCh38: Chr20:51791592	SALL4		Duane-radial ray syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 192221245.	NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu) GRCh37: Chr20:50405641 GRCh38: Chr20:51789102	SALL4	P834L, P397L	Duane-radial ray syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 189837446.	NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys) GRCh37: Chr20:50406957 GRCh38: Chr20:51790418	SALL4	E689K	Duane-radial ray syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 180635647.	NM_020436.5(SALL4):c.2252del (p.Asn751fs) GRCh37: Chr20:50406770 GRCh38: Chr20:51790231	SALL4	N751fs	Duane-radial ray syndrome	Pathogenic (Aug 28, 2019)	criteria provided, single submitter
Select item 180424448.	NM_020436.5(SALL4):c.2462-12T>C GRCh37: Chr20:50405692 GRCh38: Chr20:51789153	SALL4		Duane-radial ray syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 14, 2022)	criteria provided, conflicting interpretations
Select item 169907049.	NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn) GRCh37: Chr20:50407985 GRCh38: Chr20:51791446	SALL4	S346N	Duane-radial ray syndrome, not provided	Uncertain significance (May 25, 2020)	criteria provided, multiple submitters, no conflicts
Select item 169797150.	NM_020436.5(SALL4):c.712C>T (p.Gln238Ter) GRCh37: Chr20:50408310 GRCh38: Chr20:51791771	SALL4	Q238*	Duane-radial ray syndrome	Pathogenic (Jul 9, 2021)	criteria provided, single submitter
Select item 168429751.	NM_020436.5(SALL4):c.1068del (p.Lys357fs) GRCh37: Chr20:50407954 GRCh38: Chr20:51791415	SALL4	K357fs	Duane-radial ray syndrome	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 168370352.	NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) GRCh37: Chr20:50400989 GRCh38: Chr20:51784450	SALL4	G556W, G993W	Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167628453.	NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile) GRCh37: Chr20:50406743 GRCh38: Chr20:51790204	SALL4	T760I	Duane-radial ray syndrome	not provided	no assertion provided
Select item 167628354.	NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg) GRCh37: Chr20:50407232 GRCh38: Chr20:51790693	SALL4	K597R	Duane-radial ray syndrome	not provided	no assertion provided
Select item 159268255.	NM_020436.5(SALL4):c.130+6dup GRCh37: Chr20:50418811-50418812 GRCh38: Chr20:51802272-51802273	SALL4		Duane-radial ray syndrome	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 157097356.	NM_020436.5(SALL4):c.2673T>C (p.Thr891=) GRCh37: Chr20:50405469 GRCh38: Chr20:51788930	SALL4		Duane-radial ray syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 153836957.	NM_020436.5(SALL4):c.1476G>C (p.Gly492=) GRCh37: Chr20:50407546 GRCh38: Chr20:51791007	SALL4		Duane-radial ray syndrome	Likely benign (Apr 2, 2021)	criteria provided, single submitter
Select item 151481158.	NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) GRCh37: Chr20:50406612 GRCh38: Chr20:51790073	SALL4	D804N	Duane-radial ray syndrome	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 150750259.	NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) GRCh37: Chr20:50407220 GRCh38: Chr20:51790681	SALL4	R601P	Duane-radial ray syndrome	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 150208960.	NM_020436.5(SALL4):c.131-2A>G GRCh37: Chr20:50408893 GRCh38: Chr20:51792354	SALL4		Duane-radial ray syndrome	Likely pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 149449061.	NM_020436.5(SALL4):c.2370G>A (p.Pro790=) GRCh37: Chr20:50406652 GRCh38: Chr20:51790113	SALL4		Duane-radial ray syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 146205362.	NM_020436.5(SALL4):c.2816T>G (p.Met939Arg) GRCh37: Chr20:50401150 GRCh38: Chr20:51784611	SALL4	M939R, M502R	Duane-radial ray syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 145509763.	NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter) GRCh37: Chr20:50407305 GRCh38: Chr20:51790766	SALL4	R573*	Duane-radial ray syndrome	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 144174864.	NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) GRCh37: Chr20:50407142 GRCh38: Chr20:51790603	SALL4	S627L	Duane-radial ray syndrome	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 143760865.	NM_020436.5(SALL4):c.2260G>A (p.Val754Met) GRCh37: Chr20:50406762 GRCh38: Chr20:51790223	SALL4	V754M	not provided, Duane-radial ray syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142096866.	NM_020436.5(SALL4):c.318C>T (p.Ser106=) GRCh37: Chr20:50408704 GRCh38: Chr20:51792165	SALL4		Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 141533667.	NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter) GRCh37: Chr20:50407365 GRCh38: Chr20:51790826	SALL4	Q553*	Duane-radial ray syndrome	Pathogenic (Feb 13, 2021)	criteria provided, single submitter
Select item 141175968.	NM_020436.5(SALL4):c.1959dup (p.Pro654fs) GRCh37: Chr20:50407062-50407063 GRCh38: Chr20:51790523-51790524	SALL4	P654fs	Duane-radial ray syndrome	Pathogenic (May 11, 2021)	criteria provided, single submitter
Select item 140649469.	NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) GRCh37: Chr20:50405438 GRCh38: Chr20:51788899	SALL4	I465V, I902V	Duane-radial ray syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 137314470.	NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) GRCh37: Chr20:50400989 GRCh38: Chr20:51784450	SALL4	G993R, G556R	Duane-radial ray syndrome, Duane-radial ray syndrome, Oculootoradial syndrome	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137053671.	NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) GRCh37: Chr20:50400982 GRCh38: Chr20:51784443	SALL4	V995G, V558G	Duane-radial ray syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 137051972.	NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys) GRCh37: Chr20:50405552 GRCh38: Chr20:51789013	SALL4	R427C, R864C	Duane-radial ray syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 136928573.	NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) GRCh37: Chr20:50407526 GRCh38: Chr20:51790987	SALL4	T499M	Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136224374.	NC_000020.10:g.(?_50400804)_(50418947_?)del GRCh37: Chr20:50400804-50418947	SALL4		Duane-radial ray syndrome	Pathogenic (Jul 19, 2021)	criteria provided, single submitter
Select item 134323175.	NM_020436.5(SALL4):c.383del (p.Gly128fs) GRCh37: Chr20:50408639 GRCh38: Chr20:51792100	SALL4	G128fs	Duane-radial ray syndrome	Likely pathogenic (Nov 11, 2021)	no assertion criteria provided
Select item 133482376.	NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) GRCh37: Chr20:50408363 GRCh38: Chr20:51791824	SALL4	C220Y	Duane-radial ray syndrome, Oculootoradial syndrome, not specified	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130560477.	NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn) GRCh37: Chr20:50407838 GRCh38: Chr20:51791299	SALL4	S395N	not provided, Oculootoradial syndrome, Duane-radial ray syndrome	Uncertain significance (Dec 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117469678.	NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) GRCh37: Chr20:50401133 GRCh38: Chr20:51784594	SALL4	D508N, D945N	Duane-radial ray syndrome, Oculootoradial syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 116594479.	NM_020436.5(SALL4):c.762C>T (p.Ala254=) GRCh37: Chr20:50408260 GRCh38: Chr20:51791721	SALL4		Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome	Benign/Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114818380.	NM_020436.5(SALL4):c.2664C>T (p.His888=) GRCh37: Chr20:50405478 GRCh38: Chr20:51788939	SALL4		Duane-radial ray syndrome	Likely benign (Oct 11, 2021)	criteria provided, single submitter
Select item 94015981.	NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) GRCh37: Chr20:50400886 GRCh38: Chr20:51784347	SALL4	V1027G, V590G	Duane-radial ray syndrome, Oculootoradial syndrome, Duane-radial ray syndrome	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93196982.	NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg) GRCh37: Chr20:50407598 GRCh38: Chr20:51791059	SALL4	K475R	Duane-radial ray syndrome	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 91654883.	NM_020436.5(SALL4):c.516_522del (p.Gly174fs) GRCh37: Chr20:50408500-50408506 GRCh38: Chr20:51791961-51791967	SALL4	G174fs	Duane-radial ray syndrome	Pathogenic (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87273884.	NM_020436.5(SALL4):c.202C>T (p.Arg68Trp) GRCh37: Chr20:50408820 GRCh38: Chr20:51792281	SALL4	R68W	not provided, Oculootoradial syndrome, Duane-radial ray syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85685385.	NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) GRCh37: Chr20:50400869 GRCh38: Chr20:51784330	SALL4	T1033A, T596A	Duane-radial ray syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 85466186.	NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) GRCh37: Chr20:50407221 GRCh38: Chr20:51790682	SALL4	R601*	Duane-radial ray syndrome	Pathogenic (Jun 6, 2021)	criteria provided, single submitter
Select item 85003287.	NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) GRCh37: Chr20:50405474 GRCh38: Chr20:51788935	SALL4	R890W, R453W	Duane-radial ray syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 80025588.	NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu) GRCh37: Chr20:50407631 GRCh38: Chr20:51791092	SALL4	P464L	Duane-radial ray syndrome	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 77955689.	NM_020436.5(SALL4):c.42G>C (p.Ser14=) GRCh37: Chr20:50418906 GRCh38: Chr20:51802367	SALL4		Oculootoradial syndrome, Duane-radial ray syndrome, not provided	Likely benign (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 77244390.	NM_020436.5(SALL4):c.529G>A (p.Ala177Thr) GRCh37: Chr20:50408493 GRCh38: Chr20:51791954	SALL4	A177T	Duane-radial ray syndrome	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 76701691.	NM_020436.5(SALL4):c.3096T>C (p.Ala1032=) GRCh37: Chr20:50400870 GRCh38: Chr20:51784331	SALL4		Duane-radial ray syndrome	Likely benign (May 16, 2021)	criteria provided, single submitter
Select item 76490692.	NM_020436.5(SALL4):c.732C>T (p.Ser244=) GRCh37: Chr20:50408290 GRCh38: Chr20:51791751	SALL4		Duane-radial ray syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 75789793.	NM_020436.5(SALL4):c.594G>A (p.Ala198=) GRCh37: Chr20:50408428 GRCh38: Chr20:51791889	SALL4		Duane-radial ray syndrome	Likely benign (Jun 6, 2022)	criteria provided, single submitter
Select item 74432694.	NM_020436.5(SALL4):c.262C>T (p.Leu88=) GRCh37: Chr20:50408760 GRCh38: Chr20:51792221	SALL4		Duane-radial ray syndrome, Oculootoradial syndrome, not provided	Likely benign (Jan 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73139795.	NM_020436.5(SALL4):c.447G>A (p.Ala149=) GRCh37: Chr20:50408575 GRCh38: Chr20:51792036	SALL4		Duane-radial ray syndrome, Oculootoradial syndrome, not provided	Likely benign (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73072996.	NM_020436.5(SALL4):c.2166A>G (p.Leu722=) GRCh37: Chr20:50406856 GRCh38: Chr20:51790317	SALL4		Duane-radial ray syndrome, Duane-radial ray syndrome, Oculootoradial syndrome	Benign/Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 72535597.	NM_020436.5(SALL4):c.2649C>T (p.Ser883=) GRCh37: Chr20:50405493 GRCh38: Chr20:51788954	SALL4		Duane-radial ray syndrome	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 72509298.	NM_020436.5(SALL4):c.2028C>T (p.Asn676=) GRCh37: Chr20:50406994 GRCh38: Chr20:51790455	SALL4		Duane-radial ray syndrome	Benign (Aug 20, 2022)	criteria provided, single submitter
Select item 72410999.	NM_020436.5(SALL4):c.2385C>T (p.Ala795=) GRCh37: Chr20:50406637 GRCh38: Chr20:51790098	SALL4		Duane-radial ray syndrome, Duane-radial ray syndrome, Oculootoradial syndrome	Likely benign (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 711448100.	NM_020436.5(SALL4):c.2913G>A (p.Gln971=) GRCh37: Chr20:50401053 GRCh38: Chr20:51784514	SALL4		Duane-radial ray syndrome, Oculootoradial syndrome, not provided	Likely benign (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 2