29299[HGNC] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 154768	GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3	EIF2B3, HECTD3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3199561	NM_020883.2(ZSWIM5):c.3548G>A (p.Arg1183His)	ZSWIM5 (R1183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467713	NM_020883.2(ZSWIM5):c.3490G>A (p.Asp1164Asn)	ZSWIM5 (D1164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347364	NM_020883.2(ZSWIM5):c.3427A>G (p.Ser1143Gly)	ZSWIM5 (S1143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199559	NM_020883.2(ZSWIM5):c.3410A>G (p.Glu1137Gly)	ZSWIM5 (E1137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320279	NM_020883.2(ZSWIM5):c.3402C>A (p.His1134Gln)	ZSWIM5 (H1134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473833	NM_020883.2(ZSWIM5):c.3398G>A (p.Arg1133His)	ZSWIM5 (R1133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260143	NM_020883.2(ZSWIM5):c.3392G>A (p.Ser1131Asn)	ZSWIM5 (S1131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199558	NM_020883.2(ZSWIM5):c.3284G>A (p.Arg1095Gln)	ZSWIM5 (R1095Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366478	NM_020883.2(ZSWIM5):c.3281G>A (p.Arg1094His)	ZSWIM5 (R1094H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2554187	NM_020883.2(ZSWIM5):c.3280C>T (p.Arg1094Cys)	ZSWIM5 (R1094C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408662	NM_020883.2(ZSWIM5):c.3238C>T (p.Arg1080Cys)	ZSWIM5 (R1080C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496138	NM_020883.2(ZSWIM5):c.3236G>A (p.Arg1079Gln)	ZSWIM5 (R1079Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387157	NM_020883.2(ZSWIM5):c.3119A>G (p.Asn1040Ser)	ZSWIM5 (N1040S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315156	NM_020883.2(ZSWIM5):c.3038C>T (p.Pro1013Leu)	ZSWIM5 (P1013L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199557	NM_020883.2(ZSWIM5):c.3029G>A (p.Arg1010His)	ZSWIM5 (R1010H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260139	NM_020883.2(ZSWIM5):c.3014G>A (p.Arg1005His)	ZSWIM5 (R1005H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260142	NM_020883.2(ZSWIM5):c.2908C>T (p.Leu970Phe)	ZSWIM5 (L970F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199556	NM_020883.2(ZSWIM5):c.2828G>A (p.Arg943Gln)	ZSWIM5 (R943Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199555	NM_020883.2(ZSWIM5):c.2798T>C (p.Ile933Thr)	ZSWIM5 (I933T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316030	NM_020883.2(ZSWIM5):c.2713A>T (p.Ser905Cys)	ZSWIM5 (S905C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260135	NM_020883.2(ZSWIM5):c.2690A>C (p.Glu897Ala)	ZSWIM5 (E897A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389814	NM_020883.2(ZSWIM5):c.2621G>A (p.Arg874Gln)	ZSWIM5 (R874Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540666	NM_020883.2(ZSWIM5):c.2560G>A (p.Asp854Asn)	ZSWIM5 (D854N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622864	NM_020883.2(ZSWIM5):c.2441C>G (p.Ala814Gly)	ZSWIM5 (A814G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621339	NM_020883.2(ZSWIM5):c.2389C>T (p.Leu797Phe)	ZSWIM5 (L797F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394403	NM_020883.2(ZSWIM5):c.2378G>A (p.Arg793His)	ZSWIM5 (R793H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199552	NM_020883.2(ZSWIM5):c.2368C>T (p.Arg790Cys)	ZSWIM5 (R790C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536567	NM_020883.2(ZSWIM5):c.2347A>G (p.Met783Val)	ZSWIM5 (M783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480653	NM_020883.2(ZSWIM5):c.2285C>T (p.Ala762Val)	ZSWIM5 (A762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210364	NM_020883.2(ZSWIM5):c.2125C>G (p.Leu709Val)	ZSWIM5 (L709V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260140	NM_020883.2(ZSWIM5):c.2056T>C (p.Cys686Arg)	ZSWIM5 (C686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356348	NM_020883.2(ZSWIM5):c.2041G>A (p.Ala681Thr)	ZSWIM5 (A681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322884	NM_020883.2(ZSWIM5):c.1976C>T (p.Ser659Leu)	ZSWIM5 (S659L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231719	NM_020883.2(ZSWIM5):c.1922A>T (p.Tyr641Phe)	ZSWIM5 (Y641F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533253	NM_020883.2(ZSWIM5):c.1897A>G (p.Met633Val)	ZSWIM5 (M633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385092	NM_020883.2(ZSWIM5):c.1649G>A (p.Arg550His)	ZSWIM5 (R550H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260137	NM_020883.2(ZSWIM5):c.1642G>A (p.Ala548Thr)	ZSWIM5 (A548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199550	NM_020883.2(ZSWIM5):c.1550C>T (p.Ala517Val)	ZSWIM5 (A517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199549	NM_020883.2(ZSWIM5):c.1541C>T (p.Thr514Ile)	ZSWIM5 (T514I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199548	NM_020883.2(ZSWIM5):c.1540A>G (p.Thr514Ala)	ZSWIM5 (T514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355300	NM_020883.2(ZSWIM5):c.1499A>G (p.Gln500Arg)	ZSWIM5 (Q500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260144	NM_020883.2(ZSWIM5):c.1474A>G (p.Ile492Val)	ZSWIM5 (I492V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491402	NM_020883.2(ZSWIM5):c.1454G>A (p.Arg485Gln)	ZSWIM5 (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483144	NM_020883.2(ZSWIM5):c.1448C>T (p.Pro483Leu)	ZSWIM5 (P483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300776	NM_020883.2(ZSWIM5):c.1355C>G (p.Pro452Arg)	ZSWIM5 (P452R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260136	NM_020883.2(ZSWIM5):c.1354C>G (p.Pro452Ala)	ZSWIM5 (P452A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199547	NM_020883.2(ZSWIM5):c.1228T>C (p.Cys410Arg)	ZSWIM5 (C410R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718486	NM_020883.2(ZSWIM5):c.1222G>A (p.Asp408Asn)	ZSWIM5 (D408N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2337115	NM_020883.2(ZSWIM5):c.1138G>C (p.Ala380Pro)	ZSWIM5 (A380P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465803	NM_020883.2(ZSWIM5):c.1085A>G (p.Asn362Ser)	ZSWIM5 (N362S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360457	NM_020883.2(ZSWIM5):c.1039C>T (p.Leu347Phe)	ZSWIM5 (L347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304945	NM_020883.2(ZSWIM5):c.935A>C (p.Glu312Ala)	ZSWIM5 (E312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589242	NM_020883.2(ZSWIM5):c.869C>A (p.Ala290Glu)	ZSWIM5 (A290E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199567	NM_020883.2(ZSWIM5):c.821A>G (p.Gln274Arg)	ZSWIM5 (Q274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199566	NM_020883.2(ZSWIM5):c.794G>A (p.Arg265His)	ZSWIM5 (R265H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199565	NM_020883.2(ZSWIM5):c.770G>A (p.Arg257His)	ZSWIM5 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315438	NM_020883.2(ZSWIM5):c.736G>T (p.Ala246Ser)	ZSWIM5 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247264	NM_020883.2(ZSWIM5):c.680G>A (p.Arg227Gln)	ZSWIM5 (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556122	NM_020883.2(ZSWIM5):c.596G>A (p.Gly199Asp)	ZSWIM5 (G199D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156736	NM_020883.2(ZSWIM5):c.595+26359_595+34536del	ZSWIM5	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 3199564	NM_020883.2(ZSWIM5):c.544C>T (p.Arg182Trp)	ZSWIM5 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468331	NM_020883.2(ZSWIM5):c.496G>T (p.Ala166Ser)	ZSWIM5 (A166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303552	NM_020883.2(ZSWIM5):c.455C>T (p.Ala152Val)	ZSWIM5 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215827	NM_020883.2(ZSWIM5):c.437C>G (p.Ala146Gly)	ZSWIM5 (A146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199562	NM_020883.2(ZSWIM5):c.421C>T (p.Pro141Ser)	ZSWIM5 (P141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520123	NM_020883.2(ZSWIM5):c.398C>T (p.Ser133Leu)	ZSWIM5 (S133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534809	NM_020883.2(ZSWIM5):c.397T>C (p.Ser133Pro)	ZSWIM5 (S133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271568	NM_020883.2(ZSWIM5):c.391G>A (p.Gly131Arg)	ZSWIM5 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255004	NM_020883.2(ZSWIM5):c.263G>A (p.Arg88Gln)	ZSWIM5 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199554	NM_020883.2(ZSWIM5):c.242G>A (p.Arg81Gln)	ZSWIM5 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260138	NM_020883.2(ZSWIM5):c.163G>C (p.Gly55Arg)	ZSWIM5 (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546857	NM_020883.2(ZSWIM5):c.106T>C (p.Ser36Pro)	ZSWIM5 (S36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478948	NM_020883.2(ZSWIM5):c.89C>T (p.Ala30Val)	ZSWIM5 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260141	NM_020883.2(ZSWIM5):c.82C>G (p.Pro28Ala)	ZSWIM5 (P28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474852	NM_020883.2(ZSWIM5):c.31C>T (p.Leu11Phe)	ZSWIM5 (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685800	GRCh37/hg19 1p34.1(chr1:45665404-45955823)x3	HPDL, MUTYH +3 more	Copy number gain	not provided	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 830540	NC_000001.11:g.(?_44822405)_(45340264_?)dup	EIF2B3, HECTD3 +6 more	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 814071	GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1	MUTYH, PRDX1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814070	GRCh37/hg19 1p34.1(chr1:45337007-45554100)x3	EIF2B3, HECTD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 91