26286[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992968, LOC129992986 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2273720	NM_024590.4(ARSJ):c.1796G>T (p.Gly599Val)	ARSJ (G599V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619797	NM_024590.4(ARSJ):c.1781C>T (p.Ser594Leu)	ARSJ (S594L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227419	NM_024590.4(ARSJ):c.1772C>G (p.Thr591Ser)	ARSJ (T591S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291932	NM_024590.4(ARSJ):c.1759G>C (p.Val587Leu)	ARSJ (V471L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129928	NM_024590.4(ARSJ):c.1607C>A (p.Pro536His)	ARSJ (P536H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352309	NM_024590.4(ARSJ):c.1532G>A (p.Arg511Lys)	ARSJ (R395K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129927	NM_024590.4(ARSJ):c.1531A>T (p.Arg511Trp)	ARSJ (R395W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337990	NM_024590.4(ARSJ):c.1465A>G (p.Thr489Ala)	ARSJ (T373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129926	NM_024590.4(ARSJ):c.1358A>G (p.His453Arg)	ARSJ (H337R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129925	NM_024590.4(ARSJ):c.1309G>C (p.Gly437Arg)	ARSJ (G321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730947	NM_024590.4(ARSJ):c.1244G>A (p.Arg415Gln)	ARSJ (R299Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2359213	NM_024590.4(ARSJ):c.1219A>G (p.Ile407Val)	ARSJ (I291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262467	NM_024590.4(ARSJ):c.1154T>C (p.Ile385Thr)	ARSJ (I385T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129924	NM_024590.4(ARSJ):c.1004G>A (p.Gly335Glu)	ARSJ (G219E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392694	NM_024590.4(ARSJ):c.998C>T (p.Thr333Met)	ARSJ (T217M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291229	NM_024590.4(ARSJ):c.980A>G (p.Asp327Gly)	ARSJ (D327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558512	NM_024590.4(ARSJ):c.974C>T (p.Ser325Phe)	ARSJ (S209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322929	NM_024590.4(ARSJ):c.883G>T (p.Ala295Ser)	ARSJ (A179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398918	NM_024590.4(ARSJ):c.853A>G (p.Ile285Val)	ARSJ (I169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129934	NM_024590.4(ARSJ):c.848G>T (p.Arg283Leu)	ARSJ (R167L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129933	NM_024590.4(ARSJ):c.838G>C (p.Glu280Gln)	ARSJ (E164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129932	NM_024590.4(ARSJ):c.838G>A (p.Glu280Lys)	ARSJ (E164K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129931	NM_024590.4(ARSJ):c.767C>T (p.Thr256Ile)	ARSJ (T256I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471544	NM_024590.4(ARSJ):c.736G>A (p.Val246Ile)	ARSJ (V130I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129930	NM_024590.4(ARSJ):c.725A>G (p.Tyr242Cys)	ARSJ (Y126C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208743	NM_024590.4(ARSJ):c.598C>T (p.Leu200Phe)	ARSJ (L200F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316625	NM_024590.4(ARSJ):c.536T>G (p.Leu179Trp)	ARSJ (L179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391983	NM_024590.4(ARSJ):c.520G>A (p.Val174Ile)	ARSJ (V174I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129929	NM_024590.4(ARSJ):c.331G>A (p.Val111Ile)	ARSJ (V111I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257092	NM_024590.4(ARSJ):c.286T>G (p.Ser96Ala)	ARSJ (S96A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352622	NM_024590.4(ARSJ):c.232C>G (p.Leu78Val)	ARSJ (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565328	NM_024590.4(ARSJ):c.23G>A (p.Gly8Glu)	ARSJ (G8E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481536	NM_024590.4(ARSJ):c.23G>C (p.Gly8Ala)	ARSJ (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233573	NM_024590.4(ARSJ):c.20C>A (p.Ala7Glu)	ARSJ (A7E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685126	GRCh37/hg19 4q26(chr4:114874186-114954676)x1	ARSJ	Copy number loss	not provided	GUncertain significance
Select item 1809196	GRCh37/hg19 4q26(chr4:114535234-115262363)x1	ARSJ, CAMK2D	Copy number loss	not provided	GUncertain significance
Select item 1808356	GRCh37/hg19 4q26(chr4:114635932-115251586)x3	ARSJ, CAMK2D	Copy number gain	not provided	GUncertain significance
Select item 1807853	GRCh37/hg19 4q26(chr4:114661111-115170981)x3	ARSJ, CAMK2D	Copy number gain	not provided	GUncertain significance
Select item 1527117	GRCh37/hg19 4q25-26(chr4:112849108-115434557)	ALPK1, ANK2 +13 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 814601	GRCh37/hg19 4q26(chr4:114868539-114954676)x1	ARSJ	Copy number loss	not provided	GUncertain significance
Select item 814600	GRCh37/hg19 4q26(chr4:114868539-115175427)x1	ARSJ	Copy number loss	not provided	GUncertain significance
Select item 685838	GRCh37/hg19 4q26(chr4:114579245-115640604)x3	ARSJ, CAMK2D +1 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 426095	t(4;14)(q26;q12)	ARSJ, FOXG1	Translocation	Rett syndrome, congenital variant	GPathogenic

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Items: 56