"GeneDx"[submitter] AND "REST"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 1286888	NM_005612.5(REST):c.-9-281G>A	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803457	NM_005612.5(REST):c.232C>T (p.Pro78Ser)	REST (P78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165563	NM_005612.5(REST):c.234G>T (p.Pro78=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 943728	NM_005612.5(REST):c.527A>G (p.His176Arg)	REST (H176R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1309829	NM_005612.5(REST):c.645dup (p.Ile216fs)	REST (I216fs)	Duplication (frameshift variant)	REST-related disorder +1 more	GUncertain significance
Select item 1708570	NM_005612.5(REST):c.858C>T (p.Asp286=)	REST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1280209	NM_005612.5(REST):c.898+118A>T	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693335	NM_005612.5(REST):c.898+189G>C	REST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282468	NM_005612.5(REST):c.898+243C>T	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267836	NM_005612.5(REST):c.899-167A>T	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265482	NM_005612.5(REST):c.983-2256G>A	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283087	NM_005612.5(REST):c.983-2070A>G	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804533	NM_005612.5(REST):c.983-277T>C	REST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280686	NM_005612.5(REST):c.983-223_983-218del	REST	Deletion (intron variant)	not provided	GBenign
Select item 769286	NM_005612.5(REST):c.1615T>C (p.Ser539Pro)	REST (S539P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1314213	NM_005612.5(REST):c.1778G>A (p.Ser593Asn)	REST (S593N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329793	NM_005612.5(REST):c.1826_1840del (p.Asp609_Met613del)	REST	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1166565	NM_005612.5(REST):c.1876G>A (p.Val626Ile)	REST (V626I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1017358	NM_005612.5(REST):c.1900A>G (p.Met634Val)	REST (M634V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706653	NM_005612.5(REST):c.1909G>T (p.Ala637Ser)	REST (A637S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843088	NM_005612.5(REST):c.1933C>T (p.Arg645Trp)	REST (R645W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1394104	NM_005612.5(REST):c.1943C>T (p.Pro648Leu)	REST (P648L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164932	NM_005612.5(REST):c.2076G>T (p.Glu692Asp)	REST (E692D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770712	NM_005612.5(REST):c.2229_2276del (p.Gln746_Val761del)	REST	Deletion (inframe_deletion)	not provided	GBenign
Select item 1166840	NM_005612.5(REST):c.2203C>T (p.Pro735Ser)	REST (P735S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 769634	NM_005612.5(REST):c.2206C>T (p.Pro736Ser)	REST (P736S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 620429	NM_005612.5(REST):c.2227G>T (p.Glu743Ter)	REST (E743*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1165025	NM_005612.5(REST):c.2236C>A (p.Gln746Lys)	REST (Q746K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 952508	NM_005612.5(REST):c.2259_2306del (p.Met753_Pro768del)	REST	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1695777	NM_005612.5(REST):c.2254C>T (p.Pro752Ser)	REST (P752S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164933	NM_005612.5(REST):c.2284A>C (p.Lys762Gln)	REST (K762Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1023622	NM_005612.5(REST):c.2318A>G (p.Gln773Arg)	REST (Q773R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1168948	NM_005612.5(REST):c.2326C>G (p.Pro776Ala)	REST (P776A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1168079	NM_005612.5(REST):c.2390C>T (p.Pro797Leu)	REST (P797L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1050137	NM_005612.5(REST):c.2443C>T (p.Pro815Ser)	REST (P815S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 850478	NM_005612.5(REST):c.2486A>G (p.Glu829Gly)	REST (E829G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 786513	NM_005612.5(REST):c.2556G>A (p.Lys852=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1976300	NM_005612.5(REST):c.2670_2673del (p.Glu891fs)	REST (E891fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 747131	NM_005612.5(REST):c.2855A>G (p.Asp952Gly)	REST (D952G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1043280	NM_005612.5(REST):c.2909T>A (p.Val970Asp)	REST (V970D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357352	NM_005612.5(REST):c.2917A>G (p.Met973Val)	REST (M973V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169920	NM_005612.5(REST):c.3120A>G (p.Gln1040=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1166566	NM_005612.5(REST):c.3150C>G (p.Ala1050=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1170074	NM_005612.5(REST):c.3165G>A (p.Ala1055=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742197	NM_005612.5(REST):c.3293A>G (p.Ter1098=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1178578	NM_005612.5(REST):c.*151A>G	REST	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258759	NM_005612.5(REST):c.*292T>A	REST	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3359380	NM_005612.5(REST):c.3063C>A (p.Asp1021Glu)	REST (D1021E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 53