DPY19L1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 2250686	NM_001366673.1(DPY19L1):c.2215G>A (p.Val739Ile)	DPY19L1 (V666I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493613	NM_001366673.1(DPY19L1):c.2138A>G (p.Asn713Ser)	DPY19L1 (N640S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085605	NM_001366673.1(DPY19L1):c.2084G>T (p.Arg695Ile)	DPY19L1 (R622I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085604	NM_001366673.1(DPY19L1):c.2029C>G (p.Leu677Val)	DPY19L1 (L604V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240596	NM_001366673.1(DPY19L1):c.2024G>A (p.Arg675Gln)	DPY19L1 (R675Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085603	NM_001366673.1(DPY19L1):c.2000G>A (p.Arg667Gln)	DPY19L1 (R594Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549813	NM_001366673.1(DPY19L1):c.1978A>G (p.Ile660Val)	DPY19L1 (I587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264766	NM_001366673.1(DPY19L1):c.1958G>C (p.Gly653Ala)	DPY19L1 (G653A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613808	NM_001366673.1(DPY19L1):c.1818G>T (p.Leu606Phe)	DPY19L1 (L533F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528682	NM_001366673.1(DPY19L1):c.1798G>A (p.Val600Ile)	DPY19L1 (V527I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612622	NM_001366673.1(DPY19L1):c.1793A>G (p.Asn598Ser)	DPY19L1 (N598S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273677	NM_001366673.1(DPY19L1):c.1763A>C (p.Gln588Pro)	DPY19L1 (Q515P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531526	NM_001366673.1(DPY19L1):c.1733T>C (p.Val578Ala)	DPY19L1 (V505A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273678	NM_001366673.1(DPY19L1):c.1626G>A (p.Met542Ile)	DPY19L1 (M542I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559994	NM_001366673.1(DPY19L1):c.1462G>A (p.Val488Ile)	DPY19L1 (V415I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614271	NM_001366673.1(DPY19L1):c.1237T>C (p.Trp413Arg)	DPY19L1 (W340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401900	NM_001366673.1(DPY19L1):c.1208T>C (p.Leu403Pro)	DPY19L1 (L403P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085608	NM_001366673.1(DPY19L1):c.1159T>G (p.Ser387Ala)	DPY19L1 (S387A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544037	NM_001366673.1(DPY19L1):c.1157C>T (p.Ala386Val)	DPY19L1 (A386V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223659	NM_001366673.1(DPY19L1):c.1135A>G (p.Met379Val)	DPY19L1 (M379V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085607	NM_001366673.1(DPY19L1):c.1090A>T (p.Met364Leu)	DPY19L1 (M364L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602475	NM_001366673.1(DPY19L1):c.1090A>G (p.Met364Val)	DPY19L1 (M291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236867	NM_001366673.1(DPY19L1):c.922A>C (p.Lys308Gln)	DPY19L1 (K308Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273676	NM_001366673.1(DPY19L1):c.899T>G (p.Val300Gly)	DPY19L1 (V227G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512612	NM_001366673.1(DPY19L1):c.787G>C (p.Val263Leu)	DPY19L1 (V190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273679	NM_001366673.1(DPY19L1):c.778G>A (p.Gly260Arg)	DPY19L1 (G260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613289	NM_001366673.1(DPY19L1):c.683C>T (p.Pro228Leu)	DPY19L1 (P155L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247275	NM_001366673.1(DPY19L1):c.604A>G (p.Ile202Val)	DPY19L1 (I129V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285708	NM_001366673.1(DPY19L1):c.531A>T (p.Arg177Ser)	DPY19L1 (R104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085606	NM_001366673.1(DPY19L1):c.440T>C (p.Ile147Thr)	DPY19L1 (I147T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085602	NM_001366673.1(DPY19L1):c.395C>T (p.Ala132Val)	DPY19L1 (A59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409923	NM_001366673.1(DPY19L1):c.356G>A (p.Arg119His)	DPY19L1 (R46H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085609	NM_001366673.1(DPY19L1):c.314T>C (p.Val105Ala)	DPY19L1 (V105A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302689	NM_015283.2(DPY19L1):c.77G>A (p.Arg26Lys)	DPY19L1, LOC129998233 (R26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517829	NM_015283.2(DPY19L1):c.40C>T (p.Arg14Cys)	DPY19L1, LOC129998233 (R14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215965	NM_015283.2(DPY19L1):c.34C>T (p.Pro12Ser)	DPY19L1, LOC129998233 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227904	NM_015283.2(DPY19L1):c.24A>C (p.Glu8Asp)	DPY19L1, LOC129998233 (E8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 988602	GRCh37/hg19 7p14.3-14.2(chr7:34952596-35078052)x3	DPY19L1	Copy number gain	See cases	GUncertain significance
Select item 814956	GRCh37/hg19 7p14.3-14.2(chr7:34859227-35374178)x1	TBX20, NPSR1-AS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814955	GRCh37/hg19 7p14.3-14.2(chr7:34432783-35083191)x1	NPSR1-AS1, NPSR1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 590950	GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)	DPY19L1, NPSR1 +1 more	Copy number gain	Aortic valve disease 1	GUncertain significance
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 60