ClinVar for Gene (Select 285605) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086101	NM_173666.4(DTWD2):c.833C>G (p.Pro278Arg)	DTWD2 (P212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086099	NM_173666.4(DTWD2):c.652A>G (p.Asn218Asp)	DTWD2 (N152D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086098	NM_173666.4(DTWD2):c.646C>T (p.Pro216Ser)	DTWD2 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086097	NM_173666.4(DTWD2):c.382G>A (p.Gly128Ser)	DTWD2 (G62S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086096	NM_173666.4(DTWD2):c.209C>A (p.Thr70Asn)	DTWD2, LOC129994424 (T70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086094	NM_173666.4(DTWD2):c.124G>T (p.Ala42Ser)	DTWD2, LOC129994424 (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2622722	NM_173666.4(DTWD2):c.400G>A (p.Glu134Lys)	DTWD2 (E134K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619590	NM_173666.4(DTWD2):c.109G>A (p.Val37Met)	DTWD2, LOC129994424 (V37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614306	NM_173666.4(DTWD2):c.83A>C (p.Asp28Ala)	DTWD2, LOC129994424 (D28A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601992	NM_173666.4(DTWD2):c.104G>T (p.Gly35Val)	DTWD2, LOC129994424 (G35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599460	NM_173666.4(DTWD2):c.679G>A (p.Ala227Thr)	DTWD2 (A161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551781	NM_173666.4(DTWD2):c.806T>C (p.Leu269Pro)	DTWD2 (L203P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545291	NM_173666.4(DTWD2):c.302C>T (p.Pro101Leu)	DTWD2 (P101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542851	NM_173666.4(DTWD2):c.737G>A (p.Arg246His)	DTWD2 (R180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542741	NM_173666.4(DTWD2):c.202G>C (p.Glu68Gln)	DTWD2, LOC129994424 (E68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530668	NM_173666.4(DTWD2):c.278C>T (p.Thr93Ile)	DTWD2 (T27I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526531	NM_173666.4(DTWD2):c.722A>G (p.Gln241Arg)	DTWD2 (Q241R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496077	NM_173666.4(DTWD2):c.46C>G (p.Arg16Gly)	DTWD2 (R16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487079	NM_173666.4(DTWD2):c.788G>T (p.Arg263Leu)	DTWD2 (R263L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478918	NM_173666.4(DTWD2):c.316A>G (p.Lys106Glu)	DTWD2 (K40E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466482	NM_173666.4(DTWD2):c.418T>G (p.Ser140Ala)	DTWD2 (S74A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462093	NM_173666.4(DTWD2):c.325C>T (p.Arg109Cys)	DTWD2 (R43C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457779	NM_173666.4(DTWD2):c.158A>G (p.Asp53Gly)	DTWD2, LOC129994424 (D53G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401800	NM_173666.4(DTWD2):c.269A>T (p.His90Leu)	DTWD2 (H90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391797	NM_173666.4(DTWD2):c.326G>A (p.Arg109His)	DTWD2 (R43H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344229	NM_173666.4(DTWD2):c.520A>G (p.Ile174Val)	DTWD2 (I108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332998	NM_173666.4(DTWD2):c.682G>C (p.Ala228Pro)	DTWD2 (A228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303253	NM_173666.4(DTWD2):c.221G>A (p.Arg74Gln)	DTWD2 (R74Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283235	NM_173666.4(DTWD2):c.787C>T (p.Arg263Cys)	DTWD2 (R197C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266557	NM_173666.4(DTWD2):c.872T>G (p.Leu291Trp)	DTWD2 (L225W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265693	NM_173666.4(DTWD2):c.688G>A (p.Ala230Thr)	DTWD2 (A164T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215618	NM_173666.4(DTWD2):c.592A>G (p.Lys198Glu)	DTWD2 (K132E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211318	NM_173666.4(DTWD2):c.145G>A (p.Asp49Asn)	DTWD2, LOC129994424 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1808906	GRCh37/hg19 5q23.1(chr5:118190410-118345469)x1	DTWD2	Copy number loss	not provided	GUncertain significance
Select item 1807610	GRCh37/hg19 5q23.1(chr5:116399071-120032310)x3	DMXL1, DTWD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527189	GRCh37/hg19 5q23.1(chr5:118190889-118335717)	DTWD2	Copy number loss	not specified	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1340773	GRCh37/hg19 5q23.1(chr5:118266875-118375834)x1	DTWD2	Copy number loss	not provided	GUncertain significance
Select item 1340704	GRCh37/hg19 5q23.1(chr5:117870457-118190706)x1	DTWD2	Copy number loss	not provided	GUncertain significance
Select item 1340309	GRCh37/hg19 5q23.1(chr5:118117518-118208431)x1	DTWD2	Copy number loss	not provided	GUncertain significance
Select item 1340081	GRCh37/hg19 5q23.1(chr5:117953785-119242548)x3	DMXL1, DTWD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1177480	GRCh37/hg19 5q23.1(chr5:116419511-120022321)x3	DMXL1, DTWD2 +4 more	Copy number gain	not provided	Gnot provided
Select item 814736	GRCh37/hg19 5q23.1(chr5:118248051-118852095)x3	HSD17B4, DTWD2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814735	GRCh37/hg19 5q23.1(chr5:118200792-118529935)x1	DMXL1, DTWD2	Copy number loss	not provided	GUncertain significance
Select item 814734	GRCh37/hg19 5q23.1(chr5:117882619-118299216)x3	DTWD2	Copy number gain	not provided	GLikely benign
Select item 814733	GRCh37/hg19 5q23.1(chr5:117870457-118191141)x1	DTWD2	Copy number loss	not provided	GUncertain significance
Select item 688743	GRCh37/hg19 5q23.1(chr5:117373700-121001806)x1	DMXL1, DTWD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 152169	GRCh38/hg38 5q23.1(chr5:117869720-118942213)x1	DTWD2, LINC02147 +9 more	Copy number loss	See cases	GUncertain significance
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 144890	GRCh38/hg38 5q23.1(chr5:118945071-118989552)x1	DTWD2, LOC129994424 +1 more	Copy number loss	See cases	GLikely benign
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
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 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 71