ZNF532[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062566, LOC130062567 +87 more	Duplication	not provided	GUncertain significance
Select item 3258572	NM_001375912.1(ZNF532):c.146A>G (p.Asp49Gly)	ZNF532 (D49G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648764	NM_001375912.1(ZNF532):c.150C>T (p.Asp50=)	ZNF532	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3258569	NM_001375912.1(ZNF532):c.257G>A (p.Gly86Asp)	ZNF532 (G86D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778773	NM_001375912.1(ZNF532):c.426G>A (p.Glu142=)	ZNF532	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2615414	NM_001375912.1(ZNF532):c.459G>C (p.Glu153Asp)	ZNF532 (E153D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771773	NM_001375912.1(ZNF532):c.500C>T (p.Ser167Leu)	ZNF532 (S167L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3258570	NM_001375912.1(ZNF532):c.581A>G (p.Asn194Ser)	ZNF532 (N194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258571	NM_001375912.1(ZNF532):c.584T>C (p.Val195Ala)	ZNF532 (V195A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196519	NM_001375912.1(ZNF532):c.598G>T (p.Ala200Ser)	ZNF532 (A200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648765	NM_001375912.1(ZNF532):c.660C>T (p.Val220=)	ZNF532	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2466092	NM_001375912.1(ZNF532):c.665A>C (p.Lys222Thr)	ZNF532 (K222T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258573	NM_001375912.1(ZNF532):c.696C>A (p.Asp232Glu)	ZNF532 (D232E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 773073	NM_001375912.1(ZNF532):c.757C>G (p.Leu253Val)	ZNF532 (L253V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024966	NM_001375912.1(ZNF532):c.765C>T (p.Ser255=)	ZNF532	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2407050	NM_001375912.1(ZNF532):c.770C>T (p.Ala257Val)	ZNF532 (A257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593503	NM_001375912.1(ZNF532):c.803C>T (p.Ser268Leu)	ZNF532 (S268L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480693	NM_001375912.1(ZNF532):c.872T>C (p.Val291Ala)	ZNF532 (V291A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299660	NM_001375912.1(ZNF532):c.887A>C (p.Glu296Ala)	ZNF532 (E296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196520	NM_001375912.1(ZNF532):c.967G>A (p.Gly323Arg)	ZNF532 (G323R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231700	NM_001375912.1(ZNF532):c.1054G>A (p.Ala352Thr)	ZNF532 (A352T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242988	NM_001375912.1(ZNF532):c.1180G>A (p.Glu394Lys)	ZNF532 (E394K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292627	NM_001375912.1(ZNF532):c.1258C>A (p.Pro420Thr)	ZNF532 (P420T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773895	NM_001375912.1(ZNF532):c.1494C>T (p.Asn498=)	ZNF532	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2490747	NM_001375912.1(ZNF532):c.1541A>G (p.Asn514Ser)	ZNF532 (N514S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258574	NM_001375912.1(ZNF532):c.1622G>A (p.Arg541His)	ZNF532 (R541H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316984	NM_001375912.1(ZNF532):c.1687C>T (p.Pro563Ser)	ZNF532 (P563S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222273	NM_001375912.1(ZNF532):c.1703C>G (p.Ser568Cys)	ZNF532 (S568C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196512	NM_001375912.1(ZNF532):c.1721C>T (p.Ser574Leu)	ZNF532 (S574L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458450	NM_001375912.1(ZNF532):c.1838C>T (p.Thr613Met)	ZNF532 (T613M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261808	NM_001375912.1(ZNF532):c.1895C>T (p.Thr632Ile)	ZNF532 (T632I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620678	NM_001375912.1(ZNF532):c.2015G>A (p.Gly672Glu)	ZNF532 (G672E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233891	NM_001375912.1(ZNF532):c.2078C>G (p.Ser693Cys)	ZNF532 (S693C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212246	NM_001375912.1(ZNF532):c.2110A>G (p.Thr704Ala)	ZNF532 (T704A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528801	NM_001375912.1(ZNF532):c.2260C>G (p.Leu754Val)	ZNF532 (L754V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648766	NM_001375912.1(ZNF532):c.2269T>C (p.Leu757=)	ZNF532	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2282399	NM_001375912.1(ZNF532):c.2272G>C (p.Glu758Gln)	ZNF532 (E758Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196513	NM_001375912.1(ZNF532):c.2326G>T (p.Ala776Ser)	ZNF532 (A776S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279000	NM_001375912.1(ZNF532):c.2587G>T (p.Gly863Cys)	ZNF532 (G863C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388933	NM_001375912.1(ZNF532):c.2620A>G (p.Ile874Val)	ZNF532 (I874V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 147767	GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3	CCBE1, CPLX4 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2623132	NM_001375912.1(ZNF532):c.2812T>G (p.Cys938Gly)	ZNF532 (C879G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287144	NM_001375912.1(ZNF532):c.2962A>G (p.Asn988Asp)	ZNF532 (N988D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272877	NM_001375912.1(ZNF532):c.3028C>G (p.Pro1010Ala)	ZNF532 (P1010A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258576	NM_001375912.1(ZNF532):c.3043A>G (p.Met1015Val)	ZNF532 (M841V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2384898	NM_001375912.1(ZNF532):c.3068C>T (p.Pro1023Leu)	ZNF532 (P849L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258577	NM_001375912.1(ZNF532):c.3101T>A (p.Phe1034Tyr)	ZNF532 (F1034Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515690	NM_001375912.1(ZNF532):c.3110G>A (p.Arg1037Lys)	ZNF532 (R1037K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335627	NM_001375912.1(ZNF532):c.3124T>A (p.Ser1042Thr)	ZNF532 (S1042T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335628	NM_001375912.1(ZNF532):c.3125C>T (p.Ser1042Phe)	ZNF532 (S868F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370931	NM_001375912.1(ZNF532):c.3130G>A (p.Val1044Met)	ZNF532 (V1044M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378194	NM_001375912.1(ZNF532):c.3230A>C (p.Lys1077Thr)	ZNF532 (K1018T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681673	NM_001375912.1(ZNF532):c.3256G>T (p.Ala1086Ser)	ZNF532 (A1027S +3 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2410165	NM_001375912.1(ZNF532):c.3362T>C (p.Met1121Thr)	ZNF532 (M853T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354410	NM_001375912.1(ZNF532):c.3377A>G (p.Asn1126Ser)	ZNF532 (N1067S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323713	NM_001375912.1(ZNF532):c.3419G>T (p.Ser1140Ile)	LOC126862765, ZNF532 (S962I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684520	NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs)	ZNF532, LOC126862765 (V1086fs +6 more)	Duplication (frameshift variant +1 more)	Autism +1 more	GUncertain significance
Select item 2222715	NM_001375912.1(ZNF532):c.3464C>A (p.Pro1155His)	LOC126862765, ZNF532 (P887H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365590	NM_001375912.1(ZNF532):c.3585G>T (p.Gln1195His)	LOC126862765, ZNF532 (Q1017H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483664	NM_001375912.1(ZNF532):c.3616C>G (p.Arg1206Gly)	LOC126862765, ZNF532 (R1147G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196514	NM_001375912.1(ZNF532):c.3617G>A (p.Arg1206Gln)	LOC126862765, ZNF532 (R1028Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196515	NM_001375912.1(ZNF532):c.3673G>T (p.Val1225Leu)	LOC126862765, ZNF532 (V1051L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258575	NM_001375912.1(ZNF532):c.3756C>G (p.His1252Gln)	LOC126862765, ZNF532 (H1252Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542291	NM_001375912.1(ZNF532):c.3757G>A (p.Glu1253Lys)	LOC126862765, ZNF532 (E1190K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234640	NM_001375912.1(ZNF532):c.3772G>A (p.Asp1258Asn)	LOC126862765, ZNF532 (D1258N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256560	NM_001375912.1(ZNF532):c.3778G>A (p.Ala1260Thr)	LOC126862765, ZNF532 (A1082T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196517	NM_001375912.1(ZNF532):c.3808G>A (p.Ala1270Thr)	LOC126862765, ZNF532 (A1092T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196518	NM_001375912.1(ZNF532):c.3829G>A (p.Ala1277Thr)	LOC126862765, ZNF532 (A1214T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342484	NM_001375912.1(ZNF532):c.3902A>C (p.Lys1301Thr)	LOC126862765, ZNF532 (K1033T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2506541	GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)	GRP, MALT1 +10 more	Copy number loss	Cholestasis	GPathogenic

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