Related gene-specific medical variations for Gene (Select 64374) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2689989	NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)	SIL1 (E448K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689988	NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)	SIL1 (F225S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689987	NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)	SIL1 (R162C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689986	NM_022464.5(SIL1):c.-10-18951A>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GUncertain significance
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 2435946	NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)	SIL1 (E390Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435944	NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)	SIL1 (R159Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435942	NM_022464.5(SIL1):c.432G>T (p.Met144Ile)	SIL1 (M144I)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435941	NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)	SIL1 (N218S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435940	NM_022464.5(SIL1):c.218C>T (p.Thr73Met)	SIL1 (T73M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435938	NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)	SIL1 (A252T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435936	NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)	SIL1 (E61K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435934	NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)	SIL1 (E65K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435933	NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)	SIL1 (S256G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435932	NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)	SIL1 (Y212C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
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 2435930	NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)	SIL1 (N233D)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
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 2433358	NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)	SIL1 (Q417*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GLikely pathogenic
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 1807099	NM_022464.5(SIL1):c.221A>C (p.His74Pro)	SIL1 (H74P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527201	GRCh37/hg19 5q31.2(chr5:138351402-138416903)	SIL1	Copy number loss	not specified	GUncertain significance
Select item 1256310	NM_022464.5(SIL1):c.74G>A (p.Cys25Tyr)	SIL1 (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256309	NM_022464.5(SIL1):c.715G>C (p.Glu239Gln)	SIL1 (E239Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256307	NM_022464.5(SIL1):c.-10G>T	SIL1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 994493	NM_022464.5(SIL1):c.913C>A (p.Arg305=)	SIL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 994492	NM_022464.5(SIL1):c.527T>C (p.Val176Ala)	SIL1 (V176A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 814749	GRCh37/hg19 5q31.2(chr5:138449368-138566042)x1	SIL1	Copy number loss	not provided	GUncertain significance
Select item 809806	NM_022464.5(SIL1):c.623A>C (p.Asp208Ala)	SIL1 (D208A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385239	NM_022464.5(SIL1):c.-37C>T	LOC129994751, SIL1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 351108	NM_022464.5(SIL1):c.-106G>C	LOC129994751, SIL1	Single nucleotide variant (5 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 351107	NM_022464.5(SIL1):c.-98C>T	LOC129994751, SIL1	Single nucleotide variant (5 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 351106	NM_022464.5(SIL1):c.-94G>C	LOC129994751, SIL1	Single nucleotide variant (5 prime UTR variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 351105	NM_022464.5(SIL1):c.-92T>A	LOC129994751, SIL1	Single nucleotide variant (5 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 351104	NM_022464.5(SIL1):c.-29C>G	LOC129994751, SIL1	Single nucleotide variant (5 prime UTR variant)	Marinesco-Sjögren syndrome	GUncertain significance

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Links from Gene

Items: 36