1,3-Dihydrotetramethyldisiloxane - ClinVar - NCBI

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The following term was not found in ClinVar: Dihydrotetramethyldisiloxane.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145208	GRCh37/hg19 1q21.1(chr1:143134063-143284670)x3		Copy number gain	See cases	GBenign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 58038	GRCh38/hg38 1p36.33(chr1:832679-1254039)x3	AGRN, B3GALT6 +75 more	Copy number gain	See cases	GPathogenic
Select item 145395	GRCh38/hg38 1p36.33(chr1:844353-911241)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 147022	GRCh38/hg38 1p36.33(chr1:859245-911327)x3	FAM41C, LINC01128 +2 more	Copy number gain	See cases	GBenign
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 152682	GRCh38/hg38 1p36.33(chr1:904070-932163)x3	LINC02593, LOC107985728 +2 more	Copy number gain	See cases	GBenign
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 57488	GRCh38/hg38 1p36.33(chr1:911300-1084417)x3	LINC02593, LOC100288175 +38 more	Copy number gain	See cases	GUncertain significance
Select item 151330	GRCh38/hg38 1p36.33(chr1:917483-1072906)x3	AGRN, HES4 +35 more	Copy number gain	See cases	GBenign
Select item 972363	NM_001385641.1(SAMD11):c.658C>T (p.Arg220Trp)	SAMD11 (R41W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1484446	NM_001385641.1(SAMD11):c.767C>T (p.Pro256Leu)	SAMD11 (P77L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1367641	NM_001385641.1(SAMD11):c.778A>G (p.Ile260Val)	SAMD11 (I260V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157634	NM_001385641.1(SAMD11):c.779T>C (p.Ile260Thr)	SAMD11 (I260T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157635	NM_001385641.1(SAMD11):c.782T>C (p.Met261Thr)	SAMD11 (M261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 843786	NM_001385641.1(SAMD11):c.791G>A (p.Arg264Lys)	SAMD11 (R85K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934773	NM_001385641.1(SAMD11):c.791+1G>A	SAMD11	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 943630	NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr)	SAMD11 (H89Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047625	NM_001385641.1(SAMD11):c.827G>A (p.Arg276Gln)	SAMD11 (R97Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1108252	NM_001385641.1(SAMD11):c.1195+72_1195+73insCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATC	SAMD11	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 1462272	NM_001385641.1(SAMD11):c.1195+96_1195+97insGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCACCTCCCCAGCCAC	SAMD11	Microsatellite (intron variant +1 more)	not provided	GUncertain significance
Select item 151320	GRCh38/hg38 1p36.33(chr1:955565-1072906)x3	AGRN, HES4 +29 more	Copy number gain	See cases	GBenign
Select item 3300215	NM_015658.4(NOC2L):c.299C>T (p.Ser100Leu)	NOC2L (S100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200951	NM_015658.4(NOC2L):c.275A>G (p.Gln92Arg)	NOC2L (Q92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214031	NM_015658.4(NOC2L):c.263A>G (p.Gln88Arg)	NOC2L (Q88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353397	NM_015658.4(NOC2L):c.184C>G (p.Arg62Gly)	NOC2L (R62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115507	NM_198317.3(KLHL17):c.16G>C (p.Glu6Gln)	KLHL17, LOC129929064 (E6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288912	NM_198317.3(KLHL17):c.136C>A (p.Gln46Lys)	KLHL17 (Q46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115502	NM_198317.3(KLHL17):c.145C>T (p.Pro49Ser)	KLHL17 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288901	NM_198317.3(KLHL17):c.152C>G (p.Ala51Gly)	KLHL17 (A51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378213	NM_198317.3(KLHL17):c.152C>T (p.Ala51Val)	KLHL17 (A51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308800	NM_198317.3(KLHL17):c.184C>T (p.Arg62Cys)	KLHL17 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273289	NM_198317.3(KLHL17):c.187G>A (p.Glu63Lys)	KLHL17 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230643	NM_198317.3(KLHL17):c.194A>C (p.His65Pro)	KLHL17 (H65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256501	NM_198317.3(KLHL17):c.198C>G (p.Ser66Arg)	KLHL17 (S66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286750	NM_198317.3(KLHL17):c.212C>G (p.Ser71Cys)	KLHL17 (S71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288911	NM_198317.3(KLHL17):c.223T>A (p.Tyr75Asn)	KLHL17 (Y75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288908	NM_198317.3(KLHL17):c.226C>T (p.His76Tyr)	KLHL17 (H76Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782832	NM_198317.3(KLHL17):c.368A>G (p.Asn123Ser)	KLHL17 (N123S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622406	NM_198317.3(KLHL17):c.375G>A (p.Met125Ile)	KLHL17 (M125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288900	NM_198317.3(KLHL17):c.457G>T (p.Ala153Ser)	KLHL17 (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288905	NM_198317.3(KLHL17):c.478G>A (p.Gly160Ser)	KLHL17 (G160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333582	NM_198317.3(KLHL17):c.484G>A (p.Val162Met)	KLHL17 (V162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714060	NM_198317.3(KLHL17):c.489+3G>A	KLHL17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2267574	NM_198317.3(KLHL17):c.510T>A (p.Ser170Arg)	KLHL17 (S170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384970	NM_198317.3(KLHL17):c.569A>G (p.Asp190Gly)	KLHL17 (D190G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469111	NM_198317.3(KLHL17):c.637G>A (p.Ala213Thr)	KLHL17 (A213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495893	NM_198317.3(KLHL17):c.649G>T (p.Val217Leu)	KLHL17 (V217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288903	NM_198317.3(KLHL17):c.682G>A (p.Glu228Lys)	KLHL17 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784924	NM_198317.3(KLHL17):c.712-9C>T	KLHL17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3288904	NM_198317.3(KLHL17):c.728C>G (p.Ser243Cys)	KLHL17 (S243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283849	NM_198317.3(KLHL17):c.737G>C (p.Ser246Thr)	KLHL17 (S246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616698	NM_198317.3(KLHL17):c.763G>A (p.Val255Ile)	KLHL17 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463671	NM_198317.3(KLHL17):c.770G>A (p.Arg257Gln)	KLHL17 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246810	NM_198317.3(KLHL17):c.792A>T (p.Lys264Asn)	KLHL17 (K264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225854	NM_198317.3(KLHL17):c.808C>T (p.Arg270Cys)	KLHL17 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378902	NM_198317.3(KLHL17):c.826C>T (p.Arg276Trp)	KLHL17 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115509	NM_198317.3(KLHL17):c.833T>C (p.Met278Thr)	KLHL17 (M278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481786	NM_198317.3(KLHL17):c.838T>G (p.Cys280Gly)	KLHL17 (C280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787730	NM_198317.3(KLHL17):c.864C>T (p.Arg288=)	KLHL17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2508617	NM_198317.3(KLHL17):c.882C>G (p.His294Gln)	KLHL17 (H294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637979	NM_198317.3(KLHL17):c.898C>A (p.Leu300Met)	KLHL17 (L300M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3115510	NM_198317.3(KLHL17):c.939G>C (p.Glu313Asp)	KLHL17 (E313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115511	NM_198317.3(KLHL17):c.976G>A (p.Val326Ile)	KLHL17 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398896	NM_198317.3(KLHL17):c.992G>A (p.Arg331His)	KLHL17 (R331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367722	NM_198317.3(KLHL17):c.1007G>A (p.Arg336His)	KLHL17 (R336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553506	NM_198317.3(KLHL17):c.1014G>T (p.Glu338Asp)	KLHL17 (E338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747957	NM_198317.3(KLHL17):c.1042+10C>T	KLHL17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920761	NM_198317.3(KLHL17):c.1043-22C>T	KLHL17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2535952	NM_198317.3(KLHL17):c.1052G>A (p.Ser351Asn)	KLHL17 (S351N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601776	NM_198317.3(KLHL17):c.1091C>G (p.Thr364Arg)	KLHL17 (T364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115494	NM_198317.3(KLHL17):c.1130C>T (p.Thr377Met)	KLHL17 (T377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115495	NM_198317.3(KLHL17):c.1132C>T (p.Arg378Cys)	KLHL17 (R378C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775485	NM_198317.3(KLHL17):c.1167C>T (p.Asn389=)	KLHL17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750077	NM_198317.3(KLHL17):c.1200C>G (p.Thr400=)	KLHL17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115496	NM_198317.3(KLHL17):c.1213A>G (p.Thr405Ala)	KLHL17 (T405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364600	NM_198317.3(KLHL17):c.1258G>T (p.Val420Leu)	KLHL17 (V420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519648	NM_198317.3(KLHL17):c.1321G>A (p.Ala441Thr)	KLHL17 (A441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773624	NM_198317.3(KLHL17):c.1323C>T (p.Ala441=)	KLHL17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594101	NM_198317.3(KLHL17):c.1340C>T (p.Ala447Val)	KLHL17 (A447V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115498	NM_198317.3(KLHL17):c.1352A>C (p.Asn451Thr)	KLHL17 (N451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115499	NM_198317.3(KLHL17):c.1364G>A (p.Arg455His)	KLHL17 (R455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296705	NM_198317.3(KLHL17):c.1369G>A (p.Asp457Asn)	KLHL17 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115500	NM_198317.3(KLHL17):c.1381G>A (p.Gly461Arg)	KLHL17 (G461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461635	NM_198317.3(KLHL17):c.1399G>A (p.Ala467Thr)	KLHL17 (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115501	NM_198317.3(KLHL17):c.1433T>C (p.Val478Ala)	KLHL17 (V478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582848	NM_198317.3(KLHL17):c.1473C>T (p.Tyr491=)	KLHL17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288906	NM_198317.3(KLHL17):c.1514C>T (p.Pro505Leu)	KLHL17 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288902	NM_198317.3(KLHL17):c.1525G>A (p.Val509Met)	KLHL17 (V509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275279	NM_198317.3(KLHL17):c.1532C>T (p.Ser511Leu)	KLHL17 (S511L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115504	NM_198317.3(KLHL17):c.1591G>T (p.Ala531Ser)	KLHL17 (A531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115505	NM_198317.3(KLHL17):c.1609G>A (p.Gly537Ser)	KLHL17 (G537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288910	NM_198317.3(KLHL17):c.1679T>C (p.Val560Ala)	KLHL17 (V560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525474	NM_198317.3(KLHL17):c.1681G>A (p.Ala561Thr)	KLHL17 (A561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600290	NM_198317.3(KLHL17):c.1682C>T (p.Ala561Val)	KLHL17 (A561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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