ZSWIM4[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 3479495	NM_001367834.3(ZSWIM4):c.49G>A (p.Glu17Lys)	LOC130063729, ZSWIM4 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349156	NM_001367834.3(ZSWIM4):c.76G>A (p.Ala26Thr)	LOC130063729, ZSWIM4 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199545	NM_001367834.3(ZSWIM4):c.92G>C (p.Arg31Pro)	LOC130063729, ZSWIM4 (R31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525378	NM_001367834.3(ZSWIM4):c.172C>T (p.Arg58Trp)	ZSWIM4 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260131	NM_001367834.3(ZSWIM4):c.197G>A (p.Arg66His)	ZSWIM4 (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509404	NM_001367834.3(ZSWIM4):c.202G>A (p.Val68Met)	ZSWIM4 (V68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258959	NM_001367834.3(ZSWIM4):c.220C>T (p.Arg74Cys)	ZSWIM4 (R74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247602	NM_001367834.3(ZSWIM4):c.238T>C (p.Cys80Arg)	ZSWIM4 (C80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199536	NM_001367834.3(ZSWIM4):c.242T>C (p.Met81Thr)	ZSWIM4 (M81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260129	NM_001367834.3(ZSWIM4):c.290G>T (p.Arg97Leu)	ZSWIM4 (R97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199540	NM_001367834.3(ZSWIM4):c.304C>T (p.Arg102Cys)	ZSWIM4 (R102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199541	NM_001367834.3(ZSWIM4):c.328G>A (p.Gly110Arg)	ZSWIM4 (G110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260124	NM_001367834.3(ZSWIM4):c.377T>C (p.Ile126Thr)	ZSWIM4 (I126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591997	NM_001367834.3(ZSWIM4):c.382G>A (p.Glu128Lys)	ZSWIM4 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537011	NM_001367834.3(ZSWIM4):c.409C>T (p.Arg137Cys)	ZSWIM4 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295025	NM_001367834.3(ZSWIM4):c.443G>A (p.Cys148Tyr)	ZSWIM4 (C148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268662	NM_001367834.3(ZSWIM4):c.457G>C (p.Val153Leu)	ZSWIM4 (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260133	NM_001367834.3(ZSWIM4):c.572C>T (p.Thr191Met)	ZSWIM4 (T191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217392	NM_001367834.3(ZSWIM4):c.590G>C (p.Arg197Pro)	ZSWIM4 (R197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364799	NM_001367834.3(ZSWIM4):c.637A>C (p.Thr213Pro)	ZSWIM4 (T213P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260128	NM_001367834.3(ZSWIM4):c.662G>A (p.Arg221His)	ZSWIM4 (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199543	NM_001367834.3(ZSWIM4):c.745G>C (p.Glu249Gln)	ZSWIM4 (E249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479514	NM_001367834.3(ZSWIM4):c.745G>A (p.Glu249Lys)	ZSWIM4 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243191	NM_001367834.3(ZSWIM4):c.817G>A (p.Gly273Ser)	ZSWIM4 (G273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406079	NM_001367834.3(ZSWIM4):c.858C>G (p.Ser286Arg)	ZSWIM4 (S286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199544	NM_001367834.3(ZSWIM4):c.862G>A (p.Val288Met)	ZSWIM4 (V288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539729	NM_001367834.3(ZSWIM4):c.890C>G (p.Ser297Cys)	ZSWIM4 (S297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525529	NM_001367834.3(ZSWIM4):c.1105G>A (p.Asp369Asn)	ZSWIM4 (D369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199525	NM_001367834.3(ZSWIM4):c.1108G>A (p.Val370Ile)	ZSWIM4 (V370I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199526	NM_001367834.3(ZSWIM4):c.1130A>G (p.Asn377Ser)	ZSWIM4 (N377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560064	NM_001367834.3(ZSWIM4):c.1140C>G (p.Phe380Leu)	ZSWIM4 (F380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214731	NM_001367834.3(ZSWIM4):c.1141G>A (p.Asp381Asn)	ZSWIM4 (D381N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737178	NM_001367834.3(ZSWIM4):c.1158G>A (p.Gln386=)	ZSWIM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3479496	NM_001367834.3(ZSWIM4):c.1169C>G (p.Ala390Gly)	ZSWIM4 (A390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199527	NM_001367834.3(ZSWIM4):c.1601T>C (p.Ile534Thr)	ZSWIM4 (I417T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199528	NM_001367834.3(ZSWIM4):c.1642G>A (p.Glu548Lys)	ZSWIM4 (E431K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260130	NM_001367834.3(ZSWIM4):c.1646A>C (p.Glu549Ala)	ZSWIM4 (E432A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260127	NM_001367834.3(ZSWIM4):c.1814A>G (p.Gln605Arg)	ZSWIM4 (Q488R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479499	NM_001367834.3(ZSWIM4):c.1820A>G (p.Lys607Arg)	ZSWIM4 (K607R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264585	NM_001367834.3(ZSWIM4):c.1897C>T (p.Arg633Cys)	ZSWIM4 (R516C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225555	NM_001367834.3(ZSWIM4):c.1906G>A (p.Ala636Thr)	ZSWIM4 (A519T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199529	NM_001367834.3(ZSWIM4):c.1934T>G (p.Phe645Cys)	ZSWIM4 (F528C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545193	NM_001367834.3(ZSWIM4):c.1985G>A (p.Cys662Tyr)	ZSWIM4 (C545Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479488	NM_001367834.3(ZSWIM4):c.2005G>A (p.Ala669Thr)	ZSWIM4 (A552T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463792	NM_001367834.3(ZSWIM4):c.2048T>G (p.Leu683Arg)	ZSWIM4 (L683R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479493	NM_001367834.3(ZSWIM4):c.2065C>T (p.Pro689Ser)	ZSWIM4 (P689S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479494	NM_001367834.3(ZSWIM4):c.2066C>G (p.Pro689Arg)	ZSWIM4 (P689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262395	NM_001367834.3(ZSWIM4):c.2089G>A (p.Ala697Thr)	ZSWIM4 (A580T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479497	NM_001367834.3(ZSWIM4):c.2092G>A (p.Gly698Arg)	ZSWIM4 (G581R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260125	NM_001367834.3(ZSWIM4):c.2099C>T (p.Pro700Leu)	ZSWIM4 (P583L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199530	NM_001367834.3(ZSWIM4):c.2143C>T (p.Arg715Cys)	ZSWIM4 (R598C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199531	NM_001367834.3(ZSWIM4):c.2144G>A (p.Arg715His)	ZSWIM4 (R715H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199533	NM_001367834.3(ZSWIM4):c.2302G>A (p.Ala768Thr)	ZSWIM4 (A651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260134	NM_001367834.3(ZSWIM4):c.2327G>A (p.Ser776Asn)	ZSWIM4 (S659N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260126	NM_001367834.3(ZSWIM4):c.2358C>G (p.Ile786Met)	ZSWIM4 (I786M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479491	NM_001367834.3(ZSWIM4):c.2384T>C (p.Met795Thr)	ZSWIM4 (M678T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465289	NM_001367834.3(ZSWIM4):c.2414G>A (p.Arg805Gln)	ZSWIM4 (R805Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308364	NM_001367834.3(ZSWIM4):c.2417G>A (p.Arg806Gln)	ZSWIM4 (R806Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342268	NM_001367834.3(ZSWIM4):c.2432G>A (p.Arg811His)	ZSWIM4 (R694H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260132	NM_001367834.3(ZSWIM4):c.2524G>A (p.Ala842Thr)	ZSWIM4 (A725T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649399	NM_001367834.3(ZSWIM4):c.2532C>T (p.Ile844=)	ZSWIM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457551	NM_001367834.3(ZSWIM4):c.2556C>G (p.His852Gln)	ZSWIM4 (H735Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237941	NM_001367834.3(ZSWIM4):c.2570G>A (p.Arg857Gln)	ZSWIM4 (R857Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199534	NM_001367834.3(ZSWIM4):c.2605T>C (p.Trp869Arg)	ZSWIM4 (W752R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479498	NM_001367834.3(ZSWIM4):c.2607G>C (p.Trp869Cys)	ZSWIM4 (W869C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258601	NM_001367834.3(ZSWIM4):c.2615C>T (p.Ala872Val)	ZSWIM4 (A755V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649400	NM_001367834.3(ZSWIM4):c.2616C>T (p.Ala872=)	ZSWIM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393382	NM_001367834.3(ZSWIM4):c.2645A>C (p.Lys882Thr)	ZSWIM4 (K882T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558646	NM_001367834.3(ZSWIM4):c.2671G>T (p.Ala891Ser)	ZSWIM4 (A774S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604003	NM_001367834.3(ZSWIM4):c.2804C>G (p.Pro935Arg)	ZSWIM4 (P935R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479490	NM_001367834.3(ZSWIM4):c.2810G>A (p.Arg937Gln)	ZSWIM4 (R820Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294089	NM_001367834.3(ZSWIM4):c.2906C>G (p.Ser969Cys)	ZSWIM4 (S852C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479492	NM_001367834.3(ZSWIM4):c.3017C>T (p.Ser1006Leu)	ZSWIM4 (S889L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334194	NM_001367834.3(ZSWIM4):c.3053C>T (p.Ala1018Val)	ZSWIM4 (A1018V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323314	NM_001367834.3(ZSWIM4):c.3083C>T (p.Pro1028Leu)	ZSWIM4 (P911L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592769	NM_001367834.3(ZSWIM4):c.3139C>T (p.Arg1047Cys)	ZSWIM4 (R930C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199537	NM_001367834.3(ZSWIM4):c.3146C>T (p.Thr1049Met)	ZSWIM4 (T1049M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199539	NM_001367834.3(ZSWIM4):c.3220C>G (p.Pro1074Ala)	ZSWIM4 (P957A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479487	NM_001367834.3(ZSWIM4):c.3226G>A (p.Gly1076Arg)	ZSWIM4 (G959R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3479489	NM_001367834.3(ZSWIM4):c.3292A>G (p.Met1098Val)	ZSWIM4 (M1098V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 253840	GRCh37/hg19 19p13.2-13.12(chr19:13802749-14003761)x3	MIR24-2, C19orf53 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 95