"GeneDx"[submitter] AND "ZMYM3"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 381891	NM_201599.3(ZMYM3):c.4056G>A (p.Leu1352=)	ZMYM3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2442560	NM_201599.3(ZMYM3):c.3934C>T (p.Arg1312Trp)	ZMYM3 (R1300W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340748	NM_201599.3(ZMYM3):c.3820C>T (p.Arg1274Trp)	ZMYM3 (R1262W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2501969	NM_201599.3(ZMYM3):c.3712C>T (p.Arg1238Trp)	ZMYM3 (R1226W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253441	NM_201599.3(ZMYM3):c.3370C>G (p.Arg1124Gly)	ZMYM3 (R1112G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501963	NM_201599.3(ZMYM3):c.3281-2A>G	ZMYM3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3363754	NM_201599.3(ZMYM3):c.3136G>A (p.Glu1046Lys)	ZMYM3 (E1034K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582045	NM_201599.3(ZMYM3):c.3122G>A (p.Arg1041Gln)	ZMYM3 (R1029Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363316	NM_201599.3(ZMYM3):c.3016G>A (p.Asp1006Asn)	ZMYM3 (D1006N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365879	NM_201599.3(ZMYM3):c.2894T>C (p.Leu965Pro)	ZMYM3 (L953P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364384	NM_201599.3(ZMYM3):c.2861A>G (p.Asp954Gly)	ZMYM3 (D942G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136188	NM_201599.3(ZMYM3):c.2455C>G (p.Pro819Ala)	ZMYM3 (P819A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342365	NM_201599.3(ZMYM3):c.2255A>G (p.Tyr752Cys)	ZMYM3 (Y752C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3365026	NM_201599.3(ZMYM3):c.2092dup (p.Thr698fs)	ZMYM3 (T698fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2580111	NM_201599.3(ZMYM3):c.2000A>C (p.Asp667Ala)	ZMYM3 (D667A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661973	NM_201599.3(ZMYM3):c.1651C>T (p.Arg551Cys)	ZMYM3 (R551C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710149	NM_201599.3(ZMYM3):c.1322G>A (p.Arg441Gln)	ZMYM3 (R441Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3364516	NM_201599.3(ZMYM3):c.1279G>A (p.Val427Met)	ZMYM3 (V427M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444613	NM_201599.3(ZMYM3):c.1192C>T (p.Pro398Ser)	ZMYM3 (P398S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582120	NM_201599.3(ZMYM3):c.736G>A (p.Ala246Thr)	ZMYM3 (A246T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429659	NM_201599.3(ZMYM3):c.671_674dup (p.Leu226fs)	ZMYM3 (L226fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3365429	NM_201599.3(ZMYM3):c.403T>C (p.Cys135Arg)	ZMYM3 (C135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365409	NM_201599.3(ZMYM3):c.355C>G (p.Gln119Glu)	ZMYM3 (Q119E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446133	NM_201599.3(ZMYM3):c.205G>A (p.Asp69Asn)	ZMYM3 (D69N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580846	NM_201599.3(ZMYM3):c.141_142insT (p.Pro48fs)	ZMYM3 (P48fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2507381	NM_201599.3(ZMYM3):c.137C>T (p.Ala46Val)	ZMYM3 (A46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253757	GRCh37/hg19 Xq13.1(chrX:70459474-70654410)x2	ITGB1BP2, TAF1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3362033	NM_201599.3(ZMYM3):c.2684C>T (p.Pro895Leu)	ZMYM3 (P883L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362003	NM_201599.3(ZMYM3):c.134G>T (p.Trp45Leu)	ZMYM3 (W45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361555	NM_201599.3(ZMYM3):c.2314A>G (p.Ser772Gly)	ZMYM3 (S772G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361323	NM_201599.3(ZMYM3):c.3669G>C (p.Gln1223His)	ZMYM3 (Q1211H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 50