ClinVar for Gene (Select 286148) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273695	NM_181787.3(DPY19L4):c.1067G>A (p.Cys356Tyr)	DPY19L4 (C356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273694	NM_181787.3(DPY19L4):c.19C>A (p.Pro7Thr)	DPY19L4 (P7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273693	NM_181787.3(DPY19L4):c.1852T>C (p.Tyr618His)	DPY19L4 (Y618H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273692	NM_181787.3(DPY19L4):c.2073A>T (p.Lys691Asn)	DPY19L4 (K691N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085635	NM_181787.3(DPY19L4):c.966T>A (p.Ser322Arg)	DPY19L4 (S322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085634	NM_181787.3(DPY19L4):c.315T>A (p.Asp105Glu)	DPY19L4 (D105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085633	NM_181787.3(DPY19L4):c.2121C>G (p.Asn707Lys)	DPY19L4 (N707K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085632	NM_181787.3(DPY19L4):c.2099A>G (p.Tyr700Cys)	DPY19L4 (Y700C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085631	NM_181787.3(DPY19L4):c.2015G>A (p.Cys672Tyr)	DPY19L4 (C672Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085630	NM_181787.3(DPY19L4):c.1819G>C (p.Asp607His)	DPY19L4 (D607H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085629	NM_181787.3(DPY19L4):c.1736C>T (p.Ala579Val)	DPY19L4 (A579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085628	NM_181787.3(DPY19L4):c.163G>A (p.Gly55Ser)	DPY19L4 (G55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085627	NM_181787.3(DPY19L4):c.1314A>T (p.Gln438His)	DPY19L4 (Q438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2673156	NM_181787.3(DPY19L4):c.949G>T (p.Val317Leu)	DPY19L4 (V317L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2673155	NM_181787.3(DPY19L4):c.871-7A>C	DPY19L4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2559911	NM_181787.3(DPY19L4):c.1591A>G (p.Met531Val)	DPY19L4 (M531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558308	NM_181787.3(DPY19L4):c.1211C>A (p.Ser404Tyr)	DPY19L4 (S404Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556798	NM_181787.3(DPY19L4):c.112G>A (p.Glu38Lys)	DPY19L4 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541201	NM_181787.3(DPY19L4):c.1186A>G (p.Met396Val)	DPY19L4 (M396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518043	NM_181787.3(DPY19L4):c.1957C>T (p.Pro653Ser)	DPY19L4 (P653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508741	NM_181787.3(DPY19L4):c.2110G>A (p.Val704Ile)	DPY19L4 (V704I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2480325	NM_181787.3(DPY19L4):c.850T>C (p.Ser284Pro)	DPY19L4 (S284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479709	NM_181787.3(DPY19L4):c.1379T>C (p.Ile460Thr)	DPY19L4 (I460T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410355	NM_181787.3(DPY19L4):c.491A>G (p.Tyr164Cys)	DPY19L4 (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409941	NM_181787.3(DPY19L4):c.1717A>G (p.Arg573Gly)	DPY19L4 (R573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374514	NM_181787.3(DPY19L4):c.560G>A (p.Ser187Asn)	DPY19L4 (S187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364906	NM_181787.3(DPY19L4):c.689C>T (p.Ala230Val)	DPY19L4 (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353162	NM_181787.3(DPY19L4):c.623C>T (p.Thr208Ile)	DPY19L4 (T208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336773	NM_181787.3(DPY19L4):c.2153T>A (p.Val718Glu)	DPY19L4 (V718E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311226	NM_181787.3(DPY19L4):c.1361C>G (p.Thr454Ser)	DPY19L4 (T454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306367	NM_181787.3(DPY19L4):c.1488G>C (p.Met496Ile)	DPY19L4 (M496I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285268	NM_181787.3(DPY19L4):c.1441A>T (p.Met481Leu)	DPY19L4 (M481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260604	NM_181787.3(DPY19L4):c.352G>C (p.Glu118Gln)	DPY19L4 (E118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254365	NM_181787.3(DPY19L4):c.1769C>T (p.Ala590Val)	DPY19L4 (A590V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979843	GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3	CFAP418, CCNE2 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 720311	NM_181787.3(DPY19L4):c.1633-9del	DPY19L4	Deletion (intron variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441773	GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1	CCNE2, CDH17 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75