ASPSCR1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 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 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2599737	NM_024083.4(ASPSCR1):c.26G>A (p.Gly9Asp)	ASPSCR1 (G9D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130516	NM_024083.4(ASPSCR1):c.52A>G (p.Asn18Asp)	ASPSCR1 (N18D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476137	NM_024083.4(ASPSCR1):c.116C>T (p.Thr39Met)	ASPSCR1 (T39M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130513	NM_024083.4(ASPSCR1):c.121C>T (p.Arg41Trp)	ASPSCR1 (R41W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618452	NM_024083.4(ASPSCR1):c.122G>A (p.Arg41Gln)	ASPSCR1 (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311216	NM_024083.4(ASPSCR1):c.128A>G (p.Gln43Arg)	ASPSCR1 (Q43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221744	NM_024083.4(ASPSCR1):c.187C>G (p.Leu63Val)	ASPSCR1 (L63V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483014	NM_024083.4(ASPSCR1):c.232A>C (p.Met78Leu)	ASPSCR1 (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481930	NM_024083.4(ASPSCR1):c.234G>A (p.Met78Ile)	ASPSCR1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331200	NM_024083.4(ASPSCR1):c.235G>A (p.Val79Met)	ASPSCR1 (V2M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222657	NM_024083.4(ASPSCR1):c.245C>T (p.Ser82Phe)	ASPSCR1 (S5F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600331	NM_024083.4(ASPSCR1):c.247C>T (p.Arg83Trp)	ASPSCR1 (R6W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211913	NM_024083.4(ASPSCR1):c.254G>A (p.Arg85His)	ASPSCR1 (R85H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343141	NM_024083.4(ASPSCR1):c.278G>T (p.Arg93Leu)	ASPSCR1 (R16L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593600	NM_024083.4(ASPSCR1):c.326G>T (p.Cys109Phe)	ASPSCR1 (C109F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356734	NM_024083.4(ASPSCR1):c.437C>T (p.Thr146Met)	ASPSCR1 (T146M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2386624	NM_024083.4(ASPSCR1):c.455G>A (p.Arg152Gln)	ASPSCR1 (R152Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306993	NM_024083.4(ASPSCR1):c.560C>T (p.Ser187Leu)	ASPSCR1 (S110L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130517	NM_024083.4(ASPSCR1):c.563C>T (p.Ser188Leu)	ASPSCR1 (S111L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519711	NM_024083.4(ASPSCR1):c.566C>T (p.Ala189Val)	ASPSCR1 (A189V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300143	NM_024083.4(ASPSCR1):c.571G>C (p.Ala191Pro)	ASPSCR1 (A191P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345918	NM_024083.4(ASPSCR1):c.592G>A (p.Ala198Thr)	ASPSCR1 (A198T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2211758	NM_024083.4(ASPSCR1):c.631G>A (p.Asp211Asn)	ASPSCR1 (D211N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130518	NM_024083.4(ASPSCR1):c.794C>T (p.Ser265Phe)	ASPSCR1 (S188F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130519	NM_024083.4(ASPSCR1):c.890A>G (p.Gln297Arg)	ASPSCR1 (Q220R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389877	NM_024083.4(ASPSCR1):c.920A>G (p.Gln307Arg)	ASPSCR1 (Q230R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130520	NM_024083.4(ASPSCR1):c.932G>A (p.Arg311Gln)	ASPSCR1 (R234Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289896	NM_024083.4(ASPSCR1):c.932G>T (p.Arg311Leu)	ASPSCR1 (R234L +1 more)	Single nucleotide variant (missense variant +1 more)	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 2479089	NM_024083.4(ASPSCR1):c.958C>T (p.Arg320Trp)	ASPSCR1 (R320W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211013	NM_024083.4(ASPSCR1):c.998T>A (p.Leu333Gln)	ASPSCR1 (L256Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354471	NM_024083.4(ASPSCR1):c.1061G>A (p.Arg354Lys)	ASPSCR1 (R277K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367973	NM_024083.4(ASPSCR1):c.1093C>T (p.Arg365Cys)	ASPSCR1 (R288C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412529	NM_024083.4(ASPSCR1):c.1198C>T (p.Arg400Cys)	ASPSCR1 (R400C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530154	NM_024083.4(ASPSCR1):c.1217T>G (p.Phe406Cys)	ASPSCR1 (F406C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214621	NM_024083.4(ASPSCR1):c.1222C>T (p.Arg408Cys)	ASPSCR1 (R331C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214326	NM_024083.4(ASPSCR1):c.1279C>T (p.Pro427Ser)	ASPSCR1 (P427S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540503	NM_024083.4(ASPSCR1):c.1337C>G (p.Thr446Arg)	ASPSCR1 (T446R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290618	NM_024083.4(ASPSCR1):c.1351C>G (p.Gln451Glu)	ASPSCR1 (Q451E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130514	NM_024083.4(ASPSCR1):c.1367C>T (p.Pro456Leu)	ASPSCR1 (P404L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462849	NM_024083.4(ASPSCR1):c.1433A>T (p.Glu478Val)	ASPSCR1 (E478V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210262	NM_024083.4(ASPSCR1):c.1459G>A (p.Asp487Asn)	ASPSCR1 (D581N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547454	NM_024083.4(ASPSCR1):c.1557G>T (p.Glu519Asp)	ASPSCR1 (E519D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618891	NM_024083.4(ASPSCR1):c.1562C>T (p.Ala521Val)	ASPSCR1 (A521V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367019	NM_024083.4(ASPSCR1):c.1592C>T (p.Thr531Met)	ASPSCR1 (T531M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508669	NM_024083.4(ASPSCR1):c.1603G>A (p.Val535Met)	ASPSCR1 (V629M +2 more)	Single nucleotide variant (missense variant +1 more)	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 2445210	Single allele	TBCD, TEX19 +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	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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

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Items: 71