2431[HGNC] - ClinVar

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Items: 45

	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 2263428	NM_001316.4(CSE1L):c.106G>A (p.Val36Ile)	CSE1L (V36I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077973	NM_001316.4(CSE1L):c.227T>G (p.Ile76Ser)	CSE1L (I76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248265	NM_001316.4(CSE1L):c.283A>G (p.Asn95Asp)	CSE1L (N95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394849	NM_001316.4(CSE1L):c.410G>A (p.Arg137His)	CSE1L (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077974	NM_001316.4(CSE1L):c.533A>T (p.Asp178Val)	CSE1L (D178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326560	NM_001316.4(CSE1L):c.535G>T (p.Ala179Ser)	CSE1L (A179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600029	NM_001316.4(CSE1L):c.569C>T (p.Ala190Val)	CSE1L (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297618	NM_001316.4(CSE1L):c.687A>T (p.Glu229Asp)	CSE1L (E229D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269737	NM_001316.4(CSE1L):c.689T>A (p.Phe230Tyr)	CSE1L (F230Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527047	NM_001316.4(CSE1L):c.703A>G (p.Met235Val)	CSE1L (M235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485988	NM_001316.4(CSE1L):c.717G>A (p.Met239Ile)	CSE1L (M239I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531837	NM_001316.4(CSE1L):c.883A>G (p.Thr295Ala)	CSE1L (T295A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269736	NM_001316.4(CSE1L):c.910A>G (p.Thr304Ala)	CSE1L (T304A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266788	NM_001316.4(CSE1L):c.920A>G (p.Glu307Gly)	CSE1L (E307G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269735	NM_001316.4(CSE1L):c.947A>G (p.Asn316Ser)	CSE1L (N260S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077967	NM_001316.4(CSE1L):c.1054A>G (p.Met352Val)	CSE1L (M296V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269738	NM_001316.4(CSE1L):c.1120T>G (p.Leu374Val)	CSE1L (L318V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077968	NM_001316.4(CSE1L):c.1184A>G (p.Lys395Arg)	CSE1L (K339R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077969	NM_001316.4(CSE1L):c.1249G>A (p.Ala417Thr)	CSE1L (A417T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550812	NM_001316.4(CSE1L):c.1489A>G (p.Lys497Glu)	CSE1L (K497E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077970	NM_001316.4(CSE1L):c.1508C>T (p.Ser503Leu)	CSE1L (S503L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607280	NM_001316.4(CSE1L):c.1582C>T (p.Arg528Trp)	CSE1L (R472W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077971	NM_001316.4(CSE1L):c.1585C>T (p.Leu529Phe)	CSE1L (L473F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300377	NM_001316.4(CSE1L):c.1628C>T (p.Ala543Val)	CSE1L (A543V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287821	NM_001316.4(CSE1L):c.1687C>A (p.Leu563Ile)	CSE1L (L507I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604999	NM_001316.4(CSE1L):c.1813G>A (p.Val605Ile)	CSE1L (V549I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549862	NM_001316.4(CSE1L):c.1987G>A (p.Val663Ile)	CSE1L (V607I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263790	NM_001316.4(CSE1L):c.2078T>G (p.Val693Gly)	CSE1L (V693G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077972	NM_001316.4(CSE1L):c.2155A>C (p.Ile719Leu)	CSE1L (I719L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489696	NM_001316.4(CSE1L):c.2318T>C (p.Leu773Pro)	CSE1L (L717P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467911	NM_001316.4(CSE1L):c.2345A>G (p.Lys782Arg)	CSE1L (K726R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527276	NM_001316.4(CSE1L):c.2810C>T (p.Thr937Ile)	CSE1L (T881I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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: 45