ZER1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 2300134	NM_006336.4(ZER1):c.2294C>T (p.Ser765Phe)	ZDHHC12-DT, ZER1 (S702F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334296	NM_006336.4(ZER1):c.2254G>A (p.Glu752Lys)	ZDHHC12-DT, ZER1 (E689K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247683	NM_006336.4(ZER1):c.2226G>C (p.Glu742Asp)	ZER1 (E679D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536500	NM_006336.4(ZER1):c.2208G>A (p.Met736Ile)	ZER1 (M673I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599717	NM_006336.4(ZER1):c.2205G>T (p.Lys735Asn)	ZER1 (K733N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253994	NM_006336.4(ZER1):c.2196C>G (p.Asp732Glu)	ZER1 (D730E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334299	NM_006336.4(ZER1):c.2107A>G (p.Thr703Ala)	ZER1 (T701A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398603	NM_006336.4(ZER1):c.2086C>G (p.Pro696Ala)	ZER1 (P696A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322990	NM_006336.4(ZER1):c.1994C>G (p.Ala665Gly)	ZER1 (A663G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487318	NM_006336.4(ZER1):c.1988T>C (p.Met663Thr)	ZER1 (M663T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222117	NM_006336.4(ZER1):c.1967G>A (p.Arg656His)	ZER1 (R654H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618136	NM_006336.4(ZER1):c.1706A>G (p.Asn569Ser)	ZER1 (N569S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334298	NM_006336.4(ZER1):c.1612A>G (p.Lys538Glu)	ZER1 (K536E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334292	NM_006336.4(ZER1):c.1573G>A (p.Val525Met)	ZER1 (V523M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192831	NM_006336.4(ZER1):c.1552G>A (p.Val518Met)	ZER1 (V516M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334295	NM_006336.4(ZER1):c.1498G>A (p.Val500Met)	ZER1 (V500M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476435	NM_006336.4(ZER1):c.1450A>G (p.Ser484Gly)	ZER1 (S482G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536316	NM_006336.4(ZER1):c.1427G>A (p.Arg476His)	ZER1 (R474H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192830	NM_006336.4(ZER1):c.1426C>T (p.Arg476Cys)	ZER1 (R474C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475445	NM_006336.4(ZER1):c.1382C>T (p.Thr461Met)	ZER1 (T461M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607198	NM_006336.4(ZER1):c.1294G>A (p.Val432Met)	ZER1 (V432M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305417	NM_006336.4(ZER1):c.1095G>C (p.Glu365Asp)	ZER1 (E365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274374	NM_006336.4(ZER1):c.1009T>G (p.Cys337Gly)	ZER1 (C337G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376232	NM_006336.4(ZER1):c.959G>A (p.Arg320Gln)	ZER1 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465874	NM_006336.4(ZER1):c.727G>A (p.Val243Met)	ZER1 (V243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192837	NM_006336.4(ZER1):c.724A>G (p.Ile242Val)	ZER1 (I242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292318	NM_006336.4(ZER1):c.632C>T (p.Thr211Met)	ZER1 (T211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334300	NM_006336.4(ZER1):c.613G>T (p.Asp205Tyr)	ZER1 (D205Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331636	NM_006336.4(ZER1):c.592C>A (p.Leu198Ile)	ZER1 (L198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250736	NM_006336.4(ZER1):c.589C>G (p.Pro197Ala)	ZER1 (P197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479009	NM_006336.4(ZER1):c.586C>T (p.Arg196Trp)	ZER1 (R196W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408876	NM_006336.4(ZER1):c.527G>A (p.Arg176His)	ZER1 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334297	NM_006336.4(ZER1):c.433G>C (p.Glu145Gln)	ZER1 (E145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512620	NM_006336.4(ZER1):c.301C>T (p.Arg101Cys)	ZER1 (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192836	NM_006336.4(ZER1):c.248C>G (p.Thr83Arg)	ZER1 (T83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192835	NM_006336.4(ZER1):c.233G>A (p.Arg78His)	ZER1 (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192834	NM_006336.4(ZER1):c.217C>T (p.Leu73Phe)	ZER1 (L73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284087	NM_006336.4(ZER1):c.193G>A (p.Glu65Lys)	ZER1 (E65K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279371	NM_006336.4(ZER1):c.145C>T (p.Arg49Trp)	ZER1 (R49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215644	NM_006336.4(ZER1):c.91A>G (p.Lys31Glu)	ZER1 (K31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239206	NM_006336.4(ZER1):c.4G>T (p.Ala2Ser)	ZER1 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063124	GRCh37/hg19 9q34.11(chr9:131282253-131530589)x1	DYNC2I2, GLE1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 988939	GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3	DOLK, DYNC2I2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 815298	GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3	GLE1, SH3GLB2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
Select item 687384	GRCh37/hg19 9q34.11(chr9:131433808-131537679)x1	PKN3, SET +2 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 441058	GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1	CERCAM, DYNC2I2 +7 more	Copy number loss	not provided	Gnot provided
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 81