ClinVar for Gene (Select 64118) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274017	NM_022156.5(DUS1L):c.17G>C (p.Gly6Ala)	DUS1L (G6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274016	NM_022156.5(DUS1L):c.685G>A (p.Val229Ile)	DUS1L (V229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274015	NM_022156.5(DUS1L):c.1253G>A (p.Arg418Gln)	DUS1L (R418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3086203	NM_022156.5(DUS1L):c.979G>A (p.Asp327Asn)	DUS1L (D327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086202	NM_022156.5(DUS1L):c.953G>A (p.Arg318Lys)	DUS1L (R318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086201	NM_022156.5(DUS1L):c.733C>T (p.Arg245Trp)	DUS1L (R245W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086200	NM_022156.5(DUS1L):c.694G>A (p.Ala232Thr)	DUS1L (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086199	NM_022156.5(DUS1L):c.620C>A (p.Ala207Asp)	DUS1L (A207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086197	NM_022156.5(DUS1L):c.592C>T (p.Arg198Trp)	DUS1L (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086196	NM_022156.5(DUS1L):c.541C>G (p.Gln181Glu)	DUS1L (Q181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086195	NM_022156.5(DUS1L):c.1055C>T (p.Ala352Val)	DUS1L (A352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086194	NM_022156.5(DUS1L):c.1016G>A (p.Arg339Gln)	DUS1L (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2620018	NM_022156.5(DUS1L):c.58G>A (p.Val20Ile)	DUS1L (V20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614555	NM_022156.5(DUS1L):c.1143C>A (p.His381Gln)	DUS1L (H381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610304	NM_022156.5(DUS1L):c.170A>C (p.Asp57Ala)	DUS1L (D57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609743	NM_022156.5(DUS1L):c.789C>A (p.His263Gln)	DUS1L (H263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596725	NM_022156.5(DUS1L):c.778G>A (p.Val260Met)	DUS1L (V260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593478	NM_022156.5(DUS1L):c.214G>A (p.Glu72Lys)	DUS1L (E72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563697	NM_022156.5(DUS1L):c.379G>C (p.Asp127His)	DUS1L (D127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523988	NM_022156.5(DUS1L):c.1385G>C (p.Gly462Ala)	DUS1L (G462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515387	NM_022156.5(DUS1L):c.182G>A (p.Arg61Gln)	DUS1L (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2492125	NM_022156.5(DUS1L):c.144G>A (p.Met48Ile)	DUS1L (M48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489088	NM_022156.5(DUS1L):c.1128G>T (p.Gln376His)	DUS1L (Q376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487725	NM_022156.5(DUS1L):c.557C>T (p.Ser186Leu)	DUS1L (S186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478242	NM_022156.5(DUS1L):c.1057C>T (p.Arg353Cys)	DUS1L (R353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2409525	NM_022156.5(DUS1L):c.1249A>C (p.Lys417Gln)	DUS1L (K417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379360	NM_022156.5(DUS1L):c.172G>A (p.Ala58Thr)	DUS1L (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352499	NM_022156.5(DUS1L):c.932G>A (p.Arg311Gln)	DUS1L (R311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316605	NM_022156.5(DUS1L):c.272C>T (p.Ala91Val)	DUS1L (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291279	NM_022156.5(DUS1L):c.427C>T (p.Pro143Ser)	DUS1L (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268685	NM_022156.5(DUS1L):c.817C>T (p.His273Tyr)	DUS1L (H273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260605	NM_022156.5(DUS1L):c.893T>G (p.Leu298Arg)	DUS1L (L298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258740	NM_022156.5(DUS1L):c.1288G>A (p.Gly430Arg)	DUS1L (G430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256826	NM_022156.5(DUS1L):c.976G>A (p.Gly326Ser)	DUS1L (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243388	NM_022156.5(DUS1L):c.814G>A (p.Ala272Thr)	DUS1L (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229338	NM_022156.5(DUS1L):c.181C>T (p.Arg61Trp)	DUS1L (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220638	NM_022156.5(DUS1L):c.739C>A (p.Pro247Thr)	DUS1L (P247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205475	NM_022156.5(DUS1L):c.1396G>A (p.Glu466Lys)	DUS1L (E466K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 65