11370[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 146041	GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3	DDX27, KCNB1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2310358	NM_017453.4(STAU1):c.1637C>T (p.Ala546Val)	STAU1 (A505V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406719	NM_017453.4(STAU1):c.1448A>G (p.His483Arg)	STAU1 (H408R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366292	NM_017453.4(STAU1):c.1411A>G (p.Ile471Val)	STAU1 (I396V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491244	NM_017453.4(STAU1):c.1360A>T (p.Met454Leu)	STAU1 (M373L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524435	NM_017453.4(STAU1):c.1346C>A (p.Ala449Asp)	STAU1 (A408D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309857	NM_017453.4(STAU1):c.1316T>C (p.Phe439Ser)	STAU1 (F404S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292496	NM_017453.4(STAU1):c.1070C>T (p.Pro357Leu)	STAU1 (P276L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366386	NM_017453.4(STAU1):c.1028A>C (p.Asn343Thr)	STAU1 (N268T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525559	NM_017453.4(STAU1):c.935G>C (p.Gly312Ala)	STAU1 (G237A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323195	NM_017453.4(STAU1):c.850G>A (p.Gly284Arg)	STAU1 (G209R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470789	NM_017453.4(STAU1):c.832A>C (p.Ser278Arg)	STAU1 (S278R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171142	NM_017453.4(STAU1):c.657G>C (p.Lys219Asn)	STAU1 (K144N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323196	NM_017453.4(STAU1):c.637A>T (p.Met213Leu)	STAU1 (M219L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323194	NM_017453.4(STAU1):c.586C>T (p.Arg196Trp)	STAU1 (R155W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171141	NM_017453.4(STAU1):c.545A>G (p.Asn182Ser)	STAU1 (N141S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769472	NM_017453.4(STAU1):c.344+9T>G	STAU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2397993	NM_017453.4(STAU1):c.337C>T (p.Pro113Ser)	STAU1 (P32S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323197	NM_017453.4(STAU1):c.308A>C (p.Tyr103Ser)	STAU1 (Y103S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324394	NM_017453.4(STAU1):c.302C>A (p.Ser101Tyr)	STAU1 (S60Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471571	NM_017453.4(STAU1):c.296T>C (p.Met99Thr)	STAU1 (M99T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317070	NM_017453.4(STAU1):c.115A>G (p.Thr39Ala)	STAU1 (T39A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2460929	NM_017453.4(STAU1):c.52A>C (p.Ser18Arg)	STAU1 (S18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184395	NC_000020.11:g.49212886_49410642dup	DDX27, KCNB1 +12 more	Duplication	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 1340859	GRCh37/hg19 20q13.13(chr20:46721299-47873110)x3	ARFGEF2, CSE1L +4 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 830763	NC_000020.11:g.(?_48921870)_(49482500_?)del	ARFGEF2, CSE1L +4 more	Deletion	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443006	GRCh37/hg19 20q13.13(chr20:46856288-47737187)x3	ARFGEF2, CSE1L +2 more	Copy number gain	See cases	GLikely benign
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442309	GRCh37/hg19 20q13.13(chr20:47427610-48085774)x3	ARFGEF2, CSE1L +5 more	Copy number gain	See cases	GUncertain significance
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 38