64374[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 905072	NM_022464.5(SIL1):c.*349T>C	SIL1	Single nucleotide variant (3 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 351071	NM_022464.5(SIL1):c.*265C>G	SIL1	Single nucleotide variant (3 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 906655	NM_022464.5(SIL1):c.*105C>T	SIL1	Single nucleotide variant (3 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 906656	NM_022464.5(SIL1):c.*80G>C	SIL1	Single nucleotide variant (3 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 351072	NM_022464.5(SIL1):c.*68del	SIL1	Deletion (3 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 351073	NM_022464.5(SIL1):c.*30C>T	SIL1	Single nucleotide variant (3 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2049858	NM_022464.5(SIL1):c.1380G>C (p.Leu460=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2628	NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)	SIL1 (L457P)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2724110	NM_022464.5(SIL1):c.1368G>A (p.Leu456=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2435928	NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)	SIL1 (S455N)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2522181	NM_022464.5(SIL1):c.1358T>C (p.Val453Ala)	SIL1 (V453A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286537	NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)	SIL1 (G451S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 744965	NM_022464.5(SIL1):c.1347G>A (p.Leu449=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2689989	NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)	SIL1 (E448K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2068673	NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)	SIL1 (G444V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689990	NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)	SIL1 (G444C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 758620	NM_022464.5(SIL1):c.1326C>T (p.Asp442=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 1028267	NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)	SIL1 (E441*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GPathogenic
Select item 351074	NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys)	SIL1 (E441K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 3029171	NM_022464.5(SIL1):c.1320T>C (p.Gly440=)	SIL1	Single nucleotide variant (synonymous variant)	SIL1-related disorder	GLikely benign
Select item 2722399	NM_022464.5(SIL1):c.1317T>C (p.Asp439=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 1715811	NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)	SIL1 (D439G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2627	NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)	SIL1 (Q438*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 973340	NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)	SIL1 (Y429F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593134	NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln)	SIL1 (E428Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906657	NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)	SIL1 (A427S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 514855	NM_022464.5(SIL1):c.1273C>T (p.Leu425=)	SIL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724451	NM_022464.5(SIL1):c.1269C>T (p.Ala423=)	SIL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747741	NM_022464.5(SIL1):c.1263A>G (p.Thr421=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2435931	NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)	SIL1 (T421A)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 96084	NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)	SIL1 (G419S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433358	NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)	SIL1 (Q417*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 1716558	NM_022464.5(SIL1):c.1247C>A (p.Pro416His)	SIL1 (P416H)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1925918	NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)	SIL1 (R413L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1028266	NM_022464.5(SIL1):c.1238G>A (p.Arg413His)	SIL1 (R413H)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2048439	NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)	SIL1 (R413C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 235533	NM_022464.5(SIL1):c.1232G>A (p.Arg411His)	SIL1 (R411H)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +2 more	GBenign/Likely benign
Select item 2435943	NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)	SIL1 (R411G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1010979	NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)	SIL1 (R411C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2498981	NM_022464.5(SIL1):c.1224C>T (p.Cys408=)	SIL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444662	NM_022464.5(SIL1):c.1223G>A (p.Cys408Tyr)	SIL1 (C408Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823925	NM_022464.5(SIL1):c.1218C>T (p.Thr406=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2140284	NM_022464.5(SIL1):c.1218C>A (p.Thr406=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 193737	NM_022464.5(SIL1):c.1215G>T (p.Leu405=)	SIL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 448383	NM_022464.5(SIL1):c.1206C>T (p.Gly402=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome +2 more	GLikely benign
Select item 285373	NM_022464.5(SIL1):c.1205del (p.Gly402fs)	SIL1 (G402fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 424547	NM_022464.5(SIL1):c.1193T>C (p.Leu398Pro)	SIL1 (L398P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426677	NM_022464.5(SIL1):c.1189G>A (p.Val397Met)	SIL1 (V397M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058707	NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)	SIL1 (R394C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1807101	NM_022464.5(SIL1):c.1177G>T (p.Ala393Ser)	SIL1 (A393S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435946	NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)	SIL1 (E390Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1807100	NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)	SIL1 (E390K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 285899	NM_022464.5(SIL1):c.1167C>T (p.Pro389=)	SIL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 513887	NM_022464.5(SIL1):c.1164G>A (p.Leu388=)	SIL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514035	NM_022464.5(SIL1):c.1161G>A (p.Ala387=)	SIL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 351075	NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)	SIL1 (A387V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2715455	NM_022464.5(SIL1):c.1156C>T (p.Leu386=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2017978	NM_022464.5(SIL1):c.1146G>A (p.Thr382=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2185554	NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)	SIL1 (T382M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 1423817	NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)	SIL1 (E380K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 3162279	NM_022464.5(SIL1):c.1136G>C (p.Cys379Ser)	SIL1 (C379S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256308	NM_022464.5(SIL1):c.1125A>G (p.Glu375=)	SIL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 907688	NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)	SIL1 (W374C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 448382	NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg)	SIL1 (W374R)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1071735	NM_022464.5(SIL1):c.1117del (p.Leu373fs)	SIL1 (L373fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 167688	NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp)	SIL1 (G372D)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 796830	NM_022464.5(SIL1):c.1113A>G (p.Pro371=)	SIL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684382	NM_022464.5(SIL1):c.1100T>C (p.Val367Ala)	SIL1 (V367A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475664	NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)	SIL1 (V367I)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 1622647	NM_022464.5(SIL1):c.1095C>T (p.Arg365=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2110690	NM_022464.5(SIL1):c.1094G>A (p.Arg365His)	SIL1 (R365H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 862408	NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)	SIL1 (R365C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 448381	NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)	SIL1 (Q363P)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +2 more	GUncertain significance
Select item 3162278	NM_022464.5(SIL1):c.1085A>G (p.Gln362Arg)	SIL1 (Q362R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 907689	NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)	SIL1 (Q362L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3162277	NM_022464.5(SIL1):c.1077G>T (p.Glu359Asp)	SIL1 (E359D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189445	NM_022464.5(SIL1):c.1071C>T (p.Ser357=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2080028	NM_022464.5(SIL1):c.1066A>G (p.Met356Val)	SIL1 (M356V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 631957	NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)	SIL1 (Q354*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 218488	NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)	SIL1 (E347K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2429282	NM_022464.5(SIL1):c.1038del (p.Glu347fs)	SIL1 (E347fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 1131102	NM_022464.5(SIL1):c.1038C>T (p.Ala346=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 1962242	NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)	SIL1 (A346P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 805454	NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)	SIL1 (A346T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080055	NM_022464.5(SIL1):c.1035del (p.Phe345fs)	SIL1 (F345fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 1488958	NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)	SIL1 (M344T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 1971076	NM_022464.5(SIL1):c.1030-6T>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 1810095	NM_022464.5(SIL1):c.1030-9G>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome +1 more	GConflicting classifications of pathogenicity
Select item 280106	NM_022464.5(SIL1):c.1030-9G>A	SIL1	Single nucleotide variant (intron variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 2048967	NM_022464.5(SIL1):c.1030-10C>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 389351	NM_022464.5(SIL1):c.1030-14G>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome +1 more	GBenign/Likely benign
Select item 2136336	NM_022464.5(SIL1):c.1030-18G>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GConflicting classifications of pathogenicity
Select item 426699	NM_022464.5(SIL1):c.1030-18G>C	SIL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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