ZMYM5[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 146898	GRCh38/hg38 13q12.11(chr13:19503409-20005117)x3	LOC130009290, LOC130009291 +22 more	Copy number gain	See cases	GUncertain significance
Select item 147859	GRCh38/hg38 13q12.11(chr13:19632400-20005117)x3	LOC130009295, LOC130009296 +15 more	Copy number gain	See cases	GUncertain significance
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 151250	GRCh38/hg38 13q12.11(chr13:19818088-19947849)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 152752	GRCh38/hg38 13q12.11(chr13:19823314-19857140)x3	ZMYM5	Copy number gain	See cases	GUncertain significance
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 2342482	NM_001142684.2(ZMYM5):c.1114G>A (p.Ala372Thr)	ZMYM5 (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402061	NM_001142684.2(ZMYM5):c.1084A>G (p.Ser362Gly)	ZMYM5 (S362G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303590	NM_001142684.2(ZMYM5):c.1067T>A (p.Val356Glu)	ZMYM5 (V356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193813	NM_001142684.2(ZMYM5):c.1064A>T (p.Asn355Ile)	ZMYM5 (N355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334820	NM_001142684.2(ZMYM5):c.1043G>A (p.Arg348His)	ZMYM5 (R348H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 147957	GRCh38/hg38 13q12.11(chr13:19837395-19956562)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GBenign
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 3193812	NM_001142684.2(ZMYM5):c.1000A>C (p.Asn334His)	ZMYM5 (N334H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2541366	NM_001142684.2(ZMYM5):c.892G>T (p.Ala298Ser)	ZMYM5 (A298S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334821	NM_001142684.2(ZMYM5):c.884C>T (p.Thr295Ile)	ZMYM5 (Q200* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2488287	NM_001142684.2(ZMYM5):c.883A>G (p.Thr295Ala)	ZMYM5 (T295A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2262594	NM_001142684.2(ZMYM5):c.875A>T (p.Asp292Val)	ZMYM5 (D292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604224	NM_001142684.2(ZMYM5):c.803G>T (p.Cys268Phe)	ZMYM5 (C268F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193817	NM_001142684.2(ZMYM5):c.761G>A (p.Gly254Glu)	ZMYM5 (G78E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488999	NM_001142684.2(ZMYM5):c.710C>A (p.Thr237Asn)	ZMYM5 (T61N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351485	NM_001142684.2(ZMYM5):c.624T>G (p.Asn208Lys)	ZMYM5 (N208K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154794	GRCh38/hg38 13q12.11(chr13:19841545-19871196)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 149733	GRCh38/hg38 13q12.11(chr13:19841545-19873832)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 146141	GRCh38/hg38 13q12.11(chr13:19844993-19871321)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GBenign
Select item 150958	GRCh38/hg38 13q12.11(chr13:19845210-19871196)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 148127	GRCh38/hg38 13q12.11(chr13:19851311-19871180)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GBenign
Select item 3334819	NM_001142684.2(ZMYM5):c.451A>G (p.Asn151Asp)	ZMYM5 (N151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556910	NM_001142684.2(ZMYM5):c.443A>G (p.Asn148Ser)	ZMYM5 (N148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193815	NM_001142684.2(ZMYM5):c.342T>G (p.Ser114Arg)	ZMYM5 (S114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544243	NM_001142684.2(ZMYM5):c.304T>G (p.Ser102Ala)	ZMYM5 (S102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459049	NM_001142684.2(ZMYM5):c.304T>C (p.Ser102Pro)	ZMYM5 (S102P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211580	NM_001142684.2(ZMYM5):c.179T>A (p.Val60Asp)	ZMYM5 (V60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193814	NM_001142684.2(ZMYM5):c.176A>G (p.Asp59Gly)	ZMYM5 (D59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773691	NM_001142684.2(ZMYM5):c.146C>G (p.Ser49Ter)	ZMYM5 (S49*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2588119	NM_001142684.2(ZMYM5):c.88G>A (p.Asp30Asn)	ZMYM5 (D30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193816	NM_001142684.2(ZMYM5):c.70A>G (p.Met24Val)	ZMYM5 (M24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277387	NM_001142684.2(ZMYM5):c.42G>C (p.Gln14His)	ZMYM5 (Q14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244561	NM_001142684.2(ZMYM5):c.14C>T (p.Ser5Leu)	ZMYM5 (S5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146055	GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3	GJA3, GJB2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 3148926	GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	GJA3, GJB2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2684691	GRCh37/hg19 13q12.11(chr13:20050099-20602627)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1809104	GRCh37/hg19 13q12.11(chr13:20225258-20529450)x3	PSPC1, ZMYM5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808773	GRCh37/hg19 13q12.11(chr13:20252847-20659661)x1	PSPC1, ZMYM2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808759	GRCh37/hg19 13q12.11(chr13:20121619-20501716)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981007	GRCh37/hg19 13q12.11(chr13:20085212-20571450)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 981006	GRCh37/hg19 13q12.11(chr13:20403443-20494393)x1	ZMYM5	Copy number loss	not provided	GLikely benign
Select item 815567	GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	MPHOSPH8, FGF9 +27 more	Copy number loss	not provided	GPathogenic
Select item 815566	GRCh37/hg19 13q11-12.11(chr13:19436286-20886867)x3	ZMYM5, TUBA3C +7 more	Copy number gain	not provided	GUncertain significance
Select item 688667	GRCh37/hg19 13q12.11(chr13:20127464-20545714)x3	MPHOSPH8, PSPC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 686506	GRCh37/hg19 13q12.11(chr13:20195934-20466702)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685478	GRCh37/hg19 13q12.11(chr13:20403443-20593736)x3	ZMYM2, ZMYM5	Copy number gain	not provided	GUncertain significance
Select item 685307	GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GPathogenic
Select item 625812	GRCh37/hg19 13q12.11(chr13:19540031-22849981)	CRYL1, EEF1AKMT1 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564075	GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	ATP12A, C1QTNF9 +30 more	Copy number loss	not provided	GPathogenic
Select item 564041	GRCh37/hg19 13q12.11(chr13:20225257-20776711)x3	PSPC1, MPHOSPH8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564020	GRCh37/hg19 13q12.11(chr13:20269414-20543343)x1	ZMYM5, PSPC1 +1 more	Copy number loss	not provided	GLikely benign
Select item 443440	GRCh37/hg19 13q12.11(chr13:20095295-20608465)x3	MPHOSPH8, PSPC1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 441598	GRCh37/hg19 13q12.11(chr13:20321760-21255354)x3	CRYL1, GJA3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 395513	GRCh37/hg19 13q12.11(chr13:20208069-20530643)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	See cases	GLikely benign
Select item 395492	GRCh37/hg19 13q12.11(chr13:20398449-20436518)x3	ZMYM5	Copy number gain	See cases	GBenign
Select item 394927	GRCh37/hg19 13q12.11(chr13:20208069-20436518)x3	MPHOSPH8, PSPC1 +1 more	Copy number gain	See cases	GLikely benign
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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Items: 94