53616[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 773214	NM_001324418.2(ADAM22):c.14T>G (p.Val5Gly)	ADAM22, LOC129998760 (V5G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745123	NM_001324418.2(ADAM22):c.24C>T (p.Ser8=)	ADAM22, LOC129998760	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372577	NM_001324418.2(ADAM22):c.71G>C (p.Arg24Pro)	ADAM22, LOC129998760 (R24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401856	NM_001324418.2(ADAM22):c.77G>T (p.Gly26Val)	ADAM22, LOC129998760 (G26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370262	NM_001324418.2(ADAM22):c.77G>A (p.Gly26Asp)	ADAM22, LOC129998760 (G26D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773743	NM_001324418.2(ADAM22):c.85+9G>A	ADAM22, LOC129998760	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579021	NM_001324418.2(ADAM22):c.95C>T (p.Ser32Leu)	ADAM22 (S31L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2571281	NM_001324418.2(ADAM22):c.106C>T (p.Leu36=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265831	NM_001324418.2(ADAM22):c.127C>T (p.Arg43Cys)	ADAM22 (R42C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713100	NM_001324418.2(ADAM22):c.133G>A (p.Val45Met)	ADAM22 (V44M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 61 +1 more	GBenign/Likely benign
Select item 3045964	NM_001324418.2(ADAM22):c.163C>T (p.Leu55Phe)	ADAM22 (L54F +1 more)	Single nucleotide variant (missense variant)	ADAM22-related disorder	GBenign
Select item 3144990	NM_001324418.2(ADAM22):c.197G>A (p.Arg66Gln)	ADAM22 (R65Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145000	NM_001324418.2(ADAM22):c.227G>T (p.Gly76Val)	ADAM22 (G76V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657660	NM_001324418.2(ADAM22):c.241C>G (p.Pro81Ala)	ADAM22 (P80A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1188945	NM_001324418.2(ADAM22):c.242C>G (p.Pro81Arg)	ADAM22 (P80R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 61 +1 more	GBenign
Select item 717926	NM_001324418.2(ADAM22):c.355C>T (p.His119Tyr)	ADAM22 (H118Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2274915	NM_001324418.2(ADAM22):c.359T>C (p.Ile120Thr)	ADAM22 (I137T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340254	NM_001324418.2(ADAM22):c.367G>A (p.Gly123Arg)	ADAM22 (G122R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038107	NM_001324418.2(ADAM22):c.382G>A (p.Glu128Lys)	ADAM22 (E127K +2 more)	Single nucleotide variant (missense variant)	ADAM22-related disorder	GBenign
Select item 728071	NM_001324418.2(ADAM22):c.426A>G (p.Arg142=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325136	NM_001324418.2(ADAM22):c.433C>T (p.Pro145Ser)	ADAM22 (P144S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035880	NM_001324418.2(ADAM22):c.462C>T (p.Cys154=)	ADAM22	Single nucleotide variant (synonymous variant)	ADAM22-related disorder	GLikely benign
Select item 2571701	NM_001324418.2(ADAM22):c.481T>C (p.Phe161Leu)	ADAM22 (F160L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657661	NM_001324418.2(ADAM22):c.516A>G (p.Pro172=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773215	NM_001324418.2(ADAM22):c.581A>C (p.Glu194Ala)	ADAM22 (E194A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721631	NM_001324418.2(ADAM22):c.589T>C (p.Leu197=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060180	NM_001324418.2(ADAM22):c.619G>A (p.Val207Ile)	ADAM22 (V206I +2 more)	Single nucleotide variant (missense variant)	ADAM22-related disorder	GBenign
Select item 771412	NM_001324418.2(ADAM22):c.659C>G (p.Pro220Arg)	ADAM22 (P219R +2 more)	Single nucleotide variant (missense variant)	See cases +1 more	GBenign/Likely benign
Select item 2363099	NM_001324418.2(ADAM22):c.665G>T (p.Arg222Met)	ADAM22 (R222M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790601	NM_001324418.2(ADAM22):c.678G>A (p.Gln226=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044419	NM_001324418.2(ADAM22):c.703GAA[4] (p.Glu237_Thr238insGlu)	ADAM22	Microsatellite (intron variant)	ADAM22-related disorder	GLikely benign
Select item 3265809	NM_001324418.2(ADAM22):c.732G>T (p.Met244Ile)	ADAM22 (M243I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468678	NM_001324418.2(ADAM22):c.734T>C (p.Ile245Thr)	ADAM22 (I245T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224473	NM_001324418.2(ADAM22):c.775G>A (p.Val259Ile)	ADAM22 (V258I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328403	NM_001324418.2(ADAM22):c.794A>C (p.Tyr265Ser)	ADAM22 (Y282S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721588	NM_001324418.2(ADAM22):c.798G>A (p.Ala266=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033656	NM_001324418.2(ADAM22):c.826-7A>G	ADAM22	Single nucleotide variant (intron variant)	ADAM22-related disorder	GLikely benign
Select item 59622	GRCh38/hg38 7q21.12-21.13(chr7:88131360-88520102)x3	ADAM22, LOC121740690 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3145049	NM_001324418.2(ADAM22):c.985C>T (p.Leu329Phe)	ADAM22 (L346F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344456	NM_001324418.2(ADAM22):c.992C>T (p.Ser331Leu)	ADAM22 (S323L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334480	NM_001324418.2(ADAM22):c.1132A>C (p.Ile378Leu)	ADAM22 (I378L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331585	NM_001324418.2(ADAM22):c.1141A>G (p.Ile381Val)	ADAM22 (I381V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337784	NM_001324418.2(ADAM22):c.1193G>C (p.Trp398Ser)	ADAM22 (W390S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2657662	NM_001324418.2(ADAM22):c.1197C>T (p.Ser399=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 518457	NM_001324418.2(ADAM22):c.1202G>A (p.Cys401Tyr)	ADAM22 (C401Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 61	GPathogenic
Select item 3144969	NM_001324418.2(ADAM22):c.1283G>T (p.Ser428Ile)	ADAM22 (S420I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 681530	NM_001324418.2(ADAM22):c.1321-5C>T	ADAM22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690838	NM_001324418.2(ADAM22):c.1388C>T (p.Pro463Leu)	ADAM22 (P455L +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 61	GUncertain significance
Select item 711003	NM_001324418.2(ADAM22):c.1393-7T>G	ADAM22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188946	NM_001324418.2(ADAM22):c.1393-3T>C	ADAM22	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 61 +1 more	GBenign
Select item 3265789	NM_001324418.2(ADAM22):c.1441C>G (p.Gln481Glu)	ADAM22 (Q480E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265820	NM_001324418.2(ADAM22):c.1459G>A (p.Asp487Asn)	ADAM22 (D479N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050581	NM_001324418.2(ADAM22):c.1486-8C>T	ADAM22	Single nucleotide variant (intron variant)	ADAM22-related disorder	GLikely benign
Select item 2657663	NM_001324418.2(ADAM22):c.1545G>A (p.Thr515=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722123	NM_001324418.2(ADAM22):c.1566+8A>T	ADAM22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033508	NM_001324418.2(ADAM22):c.1567-4C>T	ADAM22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2386143	NM_001324418.2(ADAM22):c.1573C>A (p.Pro525Thr)	ADAM22 (P524T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726770	NM_001324418.2(ADAM22):c.1617G>A (p.Gln539=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770740	NM_001324418.2(ADAM22):c.1618-7G>A	ADAM22	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3348279	NM_001324418.2(ADAM22):c.1618-5T>C	ADAM22	Single nucleotide variant (intron variant)	ADAM22-related disorder	GLikely benign
Select item 3144971	NM_001324418.2(ADAM22):c.1693T>G (p.Ser565Ala)	ADAM22 (S582A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276336	NM_001324418.2(ADAM22):c.1700A>G (p.Lys567Arg)	ADAM22 (K584R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431595	NM_001324418.2(ADAM22):c.1733C>T (p.Thr578Met)	ADAM22 (T570M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 61	GUncertain significance
Select item 3043175	NM_001324418.2(ADAM22):c.1743T>C (p.Gly581=)	ADAM22	Single nucleotide variant (synonymous variant)	ADAM22-related disorder	GLikely benign
Select item 3057473	NM_001324418.2(ADAM22):c.1767A>G (p.Thr589=)	ADAM22	Single nucleotide variant (synonymous variant)	ADAM22-related disorder	GLikely benign
Select item 2473773	NM_001324418.2(ADAM22):c.1790A>C (p.Asp597Ala)	ADAM22 (D589A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144975	NM_001324418.2(ADAM22):c.1816A>G (p.Thr606Ala)	ADAM22 (T598A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782022	NM_001324418.2(ADAM22):c.1821T>C (p.Asn607=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 769722	NM_001324418.2(ADAM22):c.1827C>T (p.Gly609=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2557358	NM_001324418.2(ADAM22):c.1848A>C (p.Glu616Asp)	ADAM22 (E633D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712003	NM_001324418.2(ADAM22):c.1851C>T (p.Leu617=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2411525	NM_001324418.2(ADAM22):c.1889G>A (p.Gly630Glu)	ADAM22 (G630E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488926	NM_001324418.2(ADAM22):c.1893A>C (p.Arg631Ser)	ADAM22 (R623S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734042	NM_001324418.2(ADAM22):c.1934A>T (p.Asp645Val)	ADAM22 (D645V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 992726	NM_001324418.2(ADAM22):c.1981dup (p.Met661fs)	ADAM22 (M660fs +1 more)	Duplication (frameshift variant)	Seizure +1 more	GLikely pathogenic
Select item 2407776	NM_001324418.2(ADAM22):c.2026T>C (p.Phe676Leu)	ADAM22 (F693L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265854	NM_001324418.2(ADAM22):c.2048A>G (p.Lys683Arg)	ADAM22 (K683R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265843	NM_001324418.2(ADAM22):c.2095A>C (p.Lys699Gln)	ADAM22 (K691Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755263	NM_001324418.2(ADAM22):c.2153A>G (p.Asn718Ser)	ADAM22 (N717S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2483743	NM_001324418.2(ADAM22):c.2165A>C (p.Lys722Thr)	ADAM22 (K722T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515932	NM_001324418.2(ADAM22):c.2190T>A (p.Asn730Lys)	ADAM22 (N729K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547202	NM_001324418.2(ADAM22):c.2191+6T>C	ADAM22	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2606694	NM_001324418.2(ADAM22):c.2249C>T (p.Ala750Val)	ADAM22 (A749V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144999	NM_001324418.2(ADAM22):c.2251C>G (p.Leu751Val)	ADAM22 (L751V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032420	NM_001324418.2(ADAM22):c.2255_2259del (p.Ile752fs)	ADAM22 (I744fs +3 more)	Deletion (frameshift variant)	ADAM22-related disorder	GLikely pathogenic
Select item 748893	NM_001324418.2(ADAM22):c.2271G>A (p.Ala757=)	ADAM22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058529	NM_001324418.2(ADAM22):c.2280T>C (p.Tyr760=)	ADAM22	Single nucleotide variant (synonymous variant)	ADAM22-related disorder	GLikely benign
Select item 3065798	NM_001324418.2(ADAM22):c.2283-2del	ADAM22	Deletion (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 61	GLikely pathogenic
Select item 2673112	NM_001324418.2(ADAM22):c.2291G>A (p.Arg764Gln)	ADAM22 (R756Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2334913	NM_001324418.2(ADAM22):c.2303A>G (p.Gln768Arg)	ADAM22 (Q768R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265800	NM_001324418.2(ADAM22):c.2371G>A (p.Gly791Arg)	ADAM22 (G790R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 518458	NM_001324418.2(ADAM22):c.2396del (p.Ser799fs)	ADAM22 (S798fs +1 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 61	GPathogenic
Select item 1188947	NM_001324418.2(ADAM22):c.2596+35T>C	ADAM22	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 61 +1 more	GBenign
Select item 2488621	NM_001324418.2(ADAM22):c.2647C>T (p.Arg883Trp)	ADAM22 (R817W +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295536	NM_001324418.2(ADAM22):c.2738G>A (p.Gly913Glu)	ADAM22 (G902E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3145009	NM_001324418.2(ADAM22):c.2794A>G (p.Ile932Val)	ADAM22 (I855V +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 724144	NM_001324418.2(ADAM22):c.2854G>A (p.Val952Met)	ADAM22 (V857M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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