ClinVar for MedGen (Select 6222) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24359461.	NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln) GRCh37: Chr5:138283024 GRCh38: Chr5:138947335	SIL1	E390Q	Marinesco-Sjögren syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 24359442.	NM_022464.5(SIL1):c.476G>A (p.Arg159Gln) GRCh37: Chr5:138362659 GRCh38: Chr5:139026970	SIL1	R159Q	Marinesco-Sjögren syndrome	Uncertain significance (Oct 21, 2019)	criteria provided, single submitter
Select item 24359433.	NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly) GRCh37: Chr5:138282961 GRCh38: Chr5:138947272	SIL1	R411G	Marinesco-Sjögren syndrome	Uncertain significance (Oct 6, 2020)	criteria provided, single submitter
Select item 24359424.	NM_022464.5(SIL1):c.432G>T (p.Met144Ile) GRCh37: Chr5:138378330 GRCh38: Chr5:139042641	SIL1	M144I	Marinesco-Sjögren syndrome	Uncertain significance (Jun 2, 2020)	criteria provided, single submitter
Select item 24359415.	NM_022464.5(SIL1):c.653A>G (p.Asn218Ser) GRCh37: Chr5:138356974 GRCh38: Chr5:139021285	SIL1	N218S	Marinesco-Sjögren syndrome	Uncertain significance (Mar 16, 2020)	criteria provided, single submitter
Select item 24359406.	NM_022464.5(SIL1):c.218C>T (p.Thr73Met) GRCh37: Chr5:138456750 GRCh38: Chr5:139121061	SIL1	T73M	Marinesco-Sjögren syndrome	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 24359387.	NM_022464.5(SIL1):c.754G>A (p.Ala252Thr) GRCh37: Chr5:138356873 GRCh38: Chr5:139021184	SIL1	A252T	Marinesco-Sjögren syndrome	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 24359378.	NM_022464.5(SIL1):c.550A>G (p.Ile184Val) GRCh37: Chr5:138362585 GRCh38: Chr5:139026896	SIL1	I184V	Marinesco-Sjögren syndrome	Uncertain significance (Nov 25, 2021)	criteria provided, single submitter
Select item 24359369.	NM_022464.5(SIL1):c.181G>A (p.Glu61Lys) GRCh37: Chr5:138456787 GRCh38: Chr5:139121098	SIL1	E61K	Marinesco-Sjögren syndrome	Uncertain significance (Jun 17, 2019)	criteria provided, single submitter
Select item 243593410.	NM_022464.5(SIL1):c.193G>A (p.Glu65Lys) GRCh37: Chr5:138456775 GRCh38: Chr5:139121086	SIL1	E65K	Marinesco-Sjögren syndrome	Uncertain significance (May 23, 2019)	criteria provided, single submitter
Select item 243593311.	NM_022464.5(SIL1):c.766A>G (p.Ser256Gly) GRCh37: Chr5:138356861 GRCh38: Chr5:139021172	SIL1	S256G	Marinesco-Sjögren syndrome	Uncertain significance (Jan 12, 2021)	criteria provided, single submitter
Select item 243593212.	NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys) GRCh37: Chr5:138362500 GRCh38: Chr5:139026811	SIL1	Y212C	Marinesco-Sjögren syndrome	Uncertain significance (Sep 8, 2021)	criteria provided, single submitter
Select item 243593113.	NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala) GRCh37: Chr5:138282931 GRCh38: Chr5:138947242	SIL1	T421A	Marinesco-Sjögren syndrome	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 243593014.	NM_022464.5(SIL1):c.697A>G (p.Asn233Asp) GRCh37: Chr5:138356930 GRCh38: Chr5:139021241	SIL1	N233D	Marinesco-Sjögren syndrome	Uncertain significance (Jun 30, 2020)	criteria provided, single submitter
Select item 243592815.	NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn) GRCh37: Chr5:138282828 GRCh38: Chr5:138947139	SIL1	S455N	Marinesco-Sjögren syndrome	Uncertain significance (Nov 6, 2019)	criteria provided, single submitter
Select item 243335816.	NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter) GRCh37: Chr5:138282943 GRCh38: Chr5:138947254	SIL1	Q417*	Marinesco-Sjögren syndrome	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 242928217.	NM_022464.5(SIL1):c.1038del (p.Glu347fs) GRCh37: Chr5:138283154 GRCh38: Chr5:138947465	SIL1	E347fs	Marinesco-Sjögren syndrome	Likely pathogenic (Jan 5, 2023)	criteria provided, single submitter
Select item 240809618.	NM_022464.5(SIL1):c.475C>T (p.Arg159Trp) GRCh37: Chr5:138362660 GRCh38: Chr5:139026971	SIL1	R159W	Marinesco-Sjögren syndrome, Inborn genetic diseases	Uncertain significance (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 231004819.	NM_022464.5(SIL1):c.82T>C (p.Phe28Leu) GRCh37: Chr5:138463451 GRCh38: Chr5:139127762	SIL1	F28L	Marinesco-Sjögren syndrome, Inborn genetic diseases	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 227130920.	NM_022464.5(SIL1):c.526G>T (p.Val176Phe) GRCh37: Chr5:138362609 GRCh38: Chr5:139026920	SIL1	V176F	Marinesco-Sjögren syndrome, Inborn genetic diseases	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219827321.	NM_022464.5(SIL1):c.773C>T (p.Pro258Leu) GRCh37: Chr5:138287568 GRCh38: Chr5:138951879	SIL1	P258L	Marinesco-Sjögren syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 219380322.	NM_022464.5(SIL1):c.599A>C (p.Glu200Ala) GRCh37: Chr5:138362536 GRCh38: Chr5:139026847	SIL1	E200A	Marinesco-Sjögren syndrome	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 219242323.	NM_022464.5(SIL1):c.244+11del GRCh37: Chr5:138456713 GRCh38: Chr5:139121024	SIL1		Marinesco-Sjögren syndrome	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 218944524.	NM_022464.5(SIL1):c.1071C>T (p.Ser357=) GRCh37: Chr5:138283121 GRCh38: Chr5:138947432	SIL1		Marinesco-Sjögren syndrome	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 218773925.	NM_022464.5(SIL1):c.46A>C (p.Met16Leu) GRCh37: Chr5:138463487 GRCh38: Chr5:139127798	SIL1	M16L	Marinesco-Sjögren syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 218555426.	NM_022464.5(SIL1):c.1145C>T (p.Thr382Met) GRCh37: Chr5:138283047 GRCh38: Chr5:138947358	SIL1	T382M	Marinesco-Sjögren syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 218432727.	NM_022464.5(SIL1):c.453+14T>C GRCh37: Chr5:138378295 GRCh38: Chr5:139042606	SIL1		Marinesco-Sjögren syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 216515328.	NM_022464.5(SIL1):c.454-8C>T GRCh37: Chr5:138362689 GRCh38: Chr5:139027000	SIL1		Marinesco-Sjögren syndrome	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 216286929.	NM_022464.5(SIL1):c.865-14G>T GRCh37: Chr5:138287038 GRCh38: Chr5:138951349	SIL1		Marinesco-Sjögren syndrome	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 216155230.	NM_022464.5(SIL1):c.988G>A (p.Val330Met) GRCh37: Chr5:138286901 GRCh38: Chr5:138951212	SIL1	V330M	Marinesco-Sjögren syndrome	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 215925631.	NM_022464.5(SIL1):c.767+19G>A GRCh37: Chr5:138356841 GRCh38: Chr5:139021152	SIL1		Marinesco-Sjögren syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 215087632.	NM_022464.5(SIL1):c.618C>T (p.Leu206=) GRCh37: Chr5:138362517 GRCh38: Chr5:139026828	SIL1		Marinesco-Sjögren syndrome	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 214865833.	NM_022464.5(SIL1):c.698A>G (p.Asn233Ser) GRCh37: Chr5:138356929 GRCh38: Chr5:139021240	SIL1	N233S	Marinesco-Sjögren syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 214800934.	NM_022464.5(SIL1):c.354-3C>A GRCh37: Chr5:138378411 GRCh38: Chr5:139042722	SIL1		Marinesco-Sjögren syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 214664235.	NM_022464.5(SIL1):c.454-10C>G GRCh37: Chr5:138362691 GRCh38: Chr5:139027002	SIL1		Marinesco-Sjögren syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 214463936.	NM_022464.5(SIL1):c.353+12A>G GRCh37: Chr5:138386615 GRCh38: Chr5:139050926	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 214322837.	NM_022464.5(SIL1):c.487C>A (p.Pro163Thr) GRCh37: Chr5:138362648 GRCh38: Chr5:139026959	SIL1	P163T	Marinesco-Sjögren syndrome	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 214103338.	NM_022464.5(SIL1):c.585C>T (p.Ser195=) GRCh37: Chr5:138362550 GRCh38: Chr5:139026861	SIL1		Marinesco-Sjögren syndrome	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 214028439.	NM_022464.5(SIL1):c.1218C>A (p.Thr406=) GRCh37: Chr5:138282974 GRCh38: Chr5:138947285	SIL1		Marinesco-Sjögren syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 213633640.	NM_022464.5(SIL1):c.1030-18G>A GRCh37: Chr5:138283180 GRCh38: Chr5:138947491	SIL1		Marinesco-Sjögren syndrome	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 213594541.	NM_022464.5(SIL1):c.205G>A (p.Val69Met) GRCh37: Chr5:138456763 GRCh38: Chr5:139121074	SIL1	V69M	Marinesco-Sjögren syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 212261942.	NM_022464.5(SIL1):c.355C>T (p.Leu119=) GRCh37: Chr5:138378407 GRCh38: Chr5:139042718	SIL1		Marinesco-Sjögren syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 211755043.	NM_022464.5(SIL1):c.276G>A (p.Arg92=) GRCh37: Chr5:138386704 GRCh38: Chr5:139051015	SIL1		Marinesco-Sjögren syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211069044.	NM_022464.5(SIL1):c.1094G>A (p.Arg365His) GRCh37: Chr5:138283098 GRCh38: Chr5:138947409	SIL1	R365H	Marinesco-Sjögren syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210868045.	NM_022464.5(SIL1):c.215C>T (p.Pro72Leu) GRCh37: Chr5:138456753 GRCh38: Chr5:139121064	SIL1	P72L	Marinesco-Sjögren syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210331146.	NM_022464.5(SIL1):c.261A>G (p.Ala87=) GRCh37: Chr5:138386719 GRCh38: Chr5:139051030	SIL1		Marinesco-Sjögren syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 209072647.	NM_022464.5(SIL1):c.643_645+21del GRCh37: Chr5:138362469-138362492 GRCh38: Chr5:139026780-139026803	SIL1		Marinesco-Sjögren syndrome	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 208982748.	NM_022464.5(SIL1):c.815A>G (p.Lys272Arg) GRCh37: Chr5:138287526 GRCh38: Chr5:138951837	SIL1	K272R	Marinesco-Sjögren syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208097849.	NM_022464.5(SIL1):c.729G>A (p.Lys243=) GRCh37: Chr5:138356898 GRCh38: Chr5:139021209	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 208036150.	NM_022464.5(SIL1):c.271G>A (p.Val91Ile) GRCh37: Chr5:138386709 GRCh38: Chr5:139051020	SIL1	V91I	Marinesco-Sjögren syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 208008951.	NM_022464.5(SIL1):c.1029+15C>T GRCh37: Chr5:138286845 GRCh38: Chr5:138951156	SIL1		Marinesco-Sjögren syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 208005552.	NM_022464.5(SIL1):c.1035del (p.Phe345fs) GRCh37: Chr5:138283157 GRCh38: Chr5:138947468	SIL1	F345fs	Marinesco-Sjögren syndrome	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 208002853.	NM_022464.5(SIL1):c.1066A>G (p.Met356Val) GRCh37: Chr5:138283126 GRCh38: Chr5:138947437	SIL1	M356V	Marinesco-Sjögren syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 207713054.	NM_022464.5(SIL1):c.554T>C (p.Met185Thr) GRCh37: Chr5:138362581 GRCh38: Chr5:139026892	SIL1	M185T	Marinesco-Sjögren syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 207710355.	NM_022464.5(SIL1):c.559C>T (p.Arg187Trp) GRCh37: Chr5:138362576 GRCh38: Chr5:139026887	SIL1	R187W	Marinesco-Sjögren syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206915256.	NM_022464.5(SIL1):c.9C>G (p.Pro3=) GRCh37: Chr5:138463524 GRCh38: Chr5:139127835	SIL1		Marinesco-Sjögren syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 206867357.	NM_022464.5(SIL1):c.1331G>T (p.Gly444Val) GRCh37: Chr5:138282861 GRCh38: Chr5:138947172	SIL1	G444V	Marinesco-Sjögren syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 206422658.	NM_022464.5(SIL1):c.216G>A (p.Pro72=) GRCh37: Chr5:138456752 GRCh38: Chr5:139121063	SIL1		Marinesco-Sjögren syndrome	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 206131159.	NM_022464.5(SIL1):c.211C>T (p.His71Tyr) GRCh37: Chr5:138456757 GRCh38: Chr5:139121068	SIL1	H71Y	Marinesco-Sjögren syndrome	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 205870760.	NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys) GRCh37: Chr5:138283012 GRCh38: Chr5:138947323	SIL1	R394C	Marinesco-Sjögren syndrome	Uncertain significance (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205794661.	NM_022464.5(SIL1):c.837G>A (p.Thr279=) GRCh37: Chr5:138287504 GRCh38: Chr5:138951815	SIL1		Marinesco-Sjögren syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 205782962.	NM_022464.5(SIL1):c.245-15C>A GRCh37: Chr5:138386750 GRCh38: Chr5:139051061	SIL1		Marinesco-Sjögren syndrome	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 205561663.	NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro) GRCh37: Chr5:138286882 GRCh38: Chr5:138951193	SIL1	L336P	Marinesco-Sjögren syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 205557264.	NM_022464.5(SIL1):c.88del (p.Leu30fs) GRCh37: Chr5:138463445 GRCh38: Chr5:139127756	SIL1	L30fs	Marinesco-Sjögren syndrome	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205473665.	NM_022464.5(SIL1):c.936del (p.Leu313fs) GRCh37: Chr5:138286953 GRCh38: Chr5:138951264	SIL1	L313fs	Marinesco-Sjögren syndrome	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 205315666.	NM_022464.5(SIL1):c.105+20A>G GRCh37: Chr5:138463408 GRCh38: Chr5:139127719	SIL1		Marinesco-Sjögren syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 205201267.	NM_022464.5(SIL1):c.645+16G>A GRCh37: Chr5:138362474 GRCh38: Chr5:139026785	SIL1		Marinesco-Sjögren syndrome	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 205064768.	NM_022464.5(SIL1):c.430A>G (p.Met144Val) GRCh37: Chr5:138378332 GRCh38: Chr5:139042643	SIL1	M144V	Marinesco-Sjögren syndrome	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 205018569.	NM_022464.5(SIL1):c.244+17T>C GRCh37: Chr5:138456707 GRCh38: Chr5:139121018	SIL1		Marinesco-Sjögren syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 204985870.	NM_022464.5(SIL1):c.1380G>C (p.Leu460=) GRCh37: Chr5:138282812 GRCh38: Chr5:138947123	SIL1		Marinesco-Sjögren syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 204936171.	NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del) GRCh37: Chr5:138286860-138286862 GRCh38: Chr5:138951171-138951173	SIL1	K343del	Marinesco-Sjögren syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 204896772.	NM_022464.5(SIL1):c.1030-10C>T GRCh37: Chr5:138283172 GRCh38: Chr5:138947483	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 204853773.	NM_022464.5(SIL1):c.829C>T (p.Leu277=) GRCh37: Chr5:138287512 GRCh38: Chr5:138951823	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 204843974.	NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys) GRCh37: Chr5:138282955 GRCh38: Chr5:138947266	SIL1	R413C	Marinesco-Sjögren syndrome, Inborn genetic diseases	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204520375.	NM_022464.5(SIL1):c.614C>T (p.Ala205Val) GRCh37: Chr5:138362521 GRCh38: Chr5:139026832	SIL1	A205V	Marinesco-Sjögren syndrome	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 204314076.	NM_022464.5(SIL1):c.477G>C (p.Arg159=) GRCh37: Chr5:138362658 GRCh38: Chr5:139026969	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 204251177.	NM_022464.5(SIL1):c.125A>C (p.Asn42Thr) GRCh37: Chr5:138456843 GRCh38: Chr5:139121154	SIL1	N42T	Inborn genetic diseases, Marinesco-Sjögren syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203835278.	NM_022464.5(SIL1):c.244+8G>A GRCh37: Chr5:138456716 GRCh38: Chr5:139121027	SIL1		Marinesco-Sjögren syndrome	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 203761979.	NM_022464.5(SIL1):c.931G>A (p.Gly311Arg) GRCh37: Chr5:138286958 GRCh38: Chr5:138951269	SIL1	G311R	Inborn genetic diseases, Marinesco-Sjögren syndrome	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203714480.	NM_022464.5(SIL1):c.275G>A (p.Arg92Gln) GRCh37: Chr5:138386705 GRCh38: Chr5:139051016	SIL1	R92Q	Marinesco-Sjögren syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 203697281.	NM_022464.5(SIL1):c.267C>A (p.Ser89=) GRCh37: Chr5:138386713 GRCh38: Chr5:139051024	SIL1		Marinesco-Sjögren syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 203643382.	NM_022464.5(SIL1):c.31A>G (p.Met11Val) GRCh37: Chr5:138463502 GRCh38: Chr5:139127813	SIL1	M11V	Marinesco-Sjögren syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202836083.	NM_022464.5(SIL1):c.1023G>A (p.Thr341=) GRCh37: Chr5:138286866 GRCh38: Chr5:138951177	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 202267884.	NM_022464.5(SIL1):c.195_217del (p.Glu65fs) GRCh37: Chr5:138456751-138456773 GRCh38: Chr5:139121062-139121084	SIL1	E65fs	Marinesco-Sjögren syndrome	Pathogenic (Aug 8, 2022)	criteria provided, single submitter
Select item 201797885.	NM_022464.5(SIL1):c.1146G>A (p.Thr382=) GRCh37: Chr5:138283046 GRCh38: Chr5:138947357	SIL1		Marinesco-Sjögren syndrome	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 200834886.	NM_022464.5(SIL1):c.570C>G (p.Asn190Lys) GRCh37: Chr5:138362565 GRCh38: Chr5:139026876	SIL1	N190K	Marinesco-Sjögren syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 200402687.	NM_022464.5(SIL1):c.91A>G (p.Ser31Gly) GRCh37: Chr5:138463442 GRCh38: Chr5:139127753	SIL1	S31G	Marinesco-Sjögren syndrome	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 199371588.	NM_022464.5(SIL1):c.388G>A (p.Asp130Asn) GRCh37: Chr5:138378374 GRCh38: Chr5:139042685	SIL1	D130N	Marinesco-Sjögren syndrome	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198088089.	NM_022464.5(SIL1):c.694A>G (p.Ile232Val) GRCh37: Chr5:138356933 GRCh38: Chr5:139021244	SIL1	I232V	Marinesco-Sjögren syndrome	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 197107690.	NM_022464.5(SIL1):c.1030-6T>G GRCh37: Chr5:138283168 GRCh38: Chr5:138947479	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 196999091.	NM_022464.5(SIL1):c.115G>T (p.Ala39Ser) GRCh37: Chr5:138456853 GRCh38: Chr5:139121164	SIL1	A39S	Marinesco-Sjögren syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 196224292.	NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro) GRCh37: Chr5:138283156 GRCh38: Chr5:138947467	SIL1	A346P	Marinesco-Sjögren syndrome, Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 195784493.	NM_022464.5(SIL1):c.1029+12_1029+17del GRCh37: Chr5:138286843-138286848 GRCh38: Chr5:138951154-138951159	SIL1		Marinesco-Sjögren syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 195440794.	NM_022464.5(SIL1):c.166A>G (p.Thr56Ala) GRCh37: Chr5:138456802 GRCh38: Chr5:139121113	SIL1	T56A	Marinesco-Sjögren syndrome	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 194795595.	NM_022464.5(SIL1):c.907G>A (p.Ala303Thr) GRCh37: Chr5:138286982 GRCh38: Chr5:138951293	SIL1	A303T	Marinesco-Sjögren syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 194784996.	NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys) GRCh37: Chr5:138286879 GRCh38: Chr5:138951190	SIL1	Y337C	Marinesco-Sjögren syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 194648997.	NM_022464.5(SIL1):c.666G>T (p.Leu222=) GRCh37: Chr5:138356961 GRCh38: Chr5:139021272	SIL1		Marinesco-Sjögren syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 194486498.	NM_022464.5(SIL1):c.219G>A (p.Thr73=) GRCh37: Chr5:138456749 GRCh38: Chr5:139121060	SIL1		Marinesco-Sjögren syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 192933599.	NM_022464.5(SIL1):c.348C>G (p.Gly116=) GRCh37: Chr5:138386632 GRCh38: Chr5:139050943	SIL1		Marinesco-Sjögren syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 1928912100.	NM_022464.5(SIL1):c.353+19G>A GRCh37: Chr5:138386608 GRCh38: Chr5:139050919	SIL1		Marinesco-Sjögren syndrome	Benign (Sep 24, 2022)	criteria provided, single submitter

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