ZMYM4[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 2521258	NM_005095.3(ZMYM4):c.25G>A (p.Gly9Ser)	ZMYM4 (G9S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3193795	NM_005095.3(ZMYM4):c.253G>A (p.Val85Ile)	ZMYM4, ZMYM4-AS1 (V85I +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3193800	NM_005095.3(ZMYM4):c.302T>C (p.Leu101Pro)	ZMYM4, ZMYM4-AS1 (L104P +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3334814	NM_005095.3(ZMYM4):c.429T>A (p.Asp143Glu)	ZMYM4, ZMYM4-AS1 (D143E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193807	NM_005095.3(ZMYM4):c.454C>T (p.Arg152Trp)	ZMYM4, ZMYM4-AS1 (R120W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541716	NM_005095.3(ZMYM4):c.459A>T (p.Lys153Asn)	ZMYM4, ZMYM4-AS1 (K153N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193808	NM_005095.3(ZMYM4):c.536G>A (p.Arg179His)	ZMYM4, ZMYM4-AS1 (R147H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229832	NM_005095.3(ZMYM4):c.545G>A (p.Arg182Gln)	ZMYM4, ZMYM4-AS1 (R185Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319963	NM_005095.3(ZMYM4):c.572A>G (p.Asp191Gly)	ZMYM4, ZMYM4-AS1 (D159G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588125	NM_005095.3(ZMYM4):c.743G>T (p.Arg248Ile)	ZMYM4, ZMYM4-AS1 (R216I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193809	NM_005095.3(ZMYM4):c.812A>G (p.Lys271Arg)	ZMYM4, ZMYM4-AS1 (K271R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193810	NM_005095.3(ZMYM4):c.937A>G (p.Thr313Ala)	ZMYM4 (T281A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292126	NM_005095.3(ZMYM4):c.944G>T (p.Gly315Val)	ZMYM4 (G318V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193790	NM_005095.3(ZMYM4):c.1027G>C (p.Gly343Arg)	ZMYM4 (G19R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193791	NM_005095.3(ZMYM4):c.1036A>C (p.Lys346Gln)	ZMYM4 (K314Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193792	NM_005095.3(ZMYM4):c.1147C>G (p.Pro383Ala)	ZMYM4 (P383A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541037	NM_005095.3(ZMYM4):c.1219T>A (p.Phe407Ile)	ZMYM4 (F375I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269825	NM_005095.3(ZMYM4):c.1580A>G (p.Lys527Arg)	ZMYM4 (K495R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268876	NM_005095.3(ZMYM4):c.1729G>A (p.Val577Ile)	ZMYM4 (V545I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286089	NM_005095.3(ZMYM4):c.1799G>A (p.Arg600His)	LOC129388494, ZMYM4 (R603H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235822	NM_005095.3(ZMYM4):c.1897G>A (p.Val633Ile)	ZMYM4 (V309I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334817	NM_005095.3(ZMYM4):c.1967C>T (p.Thr656Ile)	ZMYM4 (T332I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303762	NM_005095.3(ZMYM4):c.2002C>T (p.Arg668Cys)	ZMYM4 (R636C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257240	NM_005095.3(ZMYM4):c.2075G>A (p.Arg692His)	ZMYM4 (R368H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193793	NM_005095.3(ZMYM4):c.2077C>A (p.Leu693Ile)	ZMYM4 (L369I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280109	NM_005095.3(ZMYM4):c.2147C>G (p.Ser716Cys)	ZMYM4 (S392C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269782	NM_005095.3(ZMYM4):c.2192A>G (p.Tyr731Cys)	ZMYM4 (Y407C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193794	NM_005095.3(ZMYM4):c.2198A>G (p.Lys733Arg)	ZMYM4 (K701R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484455	NM_005095.3(ZMYM4):c.2314T>A (p.Cys772Ser)	ZMYM4 (C448S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193797	NM_005095.3(ZMYM4):c.2599A>G (p.Met867Val)	ZMYM4 (M543V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252768	NM_005095.3(ZMYM4):c.2726A>G (p.Gln909Arg)	ZMYM4 (Q877R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393497	NM_005095.3(ZMYM4):c.2782G>A (p.Asp928Asn)	ZMYM4 (D928N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193798	NM_005095.3(ZMYM4):c.2786C>T (p.Ala929Val)	ZMYM4 (A932V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478715	NM_005095.3(ZMYM4):c.2901A>C (p.Glu967Asp)	ZMYM4 (E935D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193799	NM_005095.3(ZMYM4):c.2935A>C (p.Ile979Leu)	ZMYM4 (I947L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334813	NM_005095.3(ZMYM4):c.2944G>A (p.Val982Met)	ZMYM4 (V658M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334815	NM_005095.3(ZMYM4):c.3035C>T (p.Pro1012Leu)	ZMYM4 (P1015L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334816	NM_005095.3(ZMYM4):c.3182A>C (p.Lys1061Thr)	ZMYM4 (K737T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520346	NM_005095.3(ZMYM4):c.3239A>G (p.Lys1080Arg)	ZMYM4 (K1083R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241671	NM_005095.3(ZMYM4):c.3258A>T (p.Gln1086His)	ZMYM4 (Q1089H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240633	NM_005095.3(ZMYM4):c.3491G>A (p.Arg1164Gln)	ZMYM4 (R1132Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255228	NM_005095.3(ZMYM4):c.3580G>A (p.Ala1194Thr)	ZMYM4 (A1162T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554130	NM_005095.3(ZMYM4):c.3604G>A (p.Gly1202Arg)	ZMYM4 (G1202R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569941	NM_005095.3(ZMYM4):c.3682G>C (p.Gly1228Arg)	ZMYM4 (G1228R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193802	NM_005095.3(ZMYM4):c.3741A>C (p.Leu1247Phe)	ZMYM4 (L1247F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193803	NM_005095.3(ZMYM4):c.3799C>T (p.Arg1267Cys)	ZMYM4 (R1235C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276864	NM_005095.3(ZMYM4):c.3841G>A (p.Ala1281Thr)	ZMYM4 (A1284T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334818	NM_005095.3(ZMYM4):c.3856G>A (p.Gly1286Ser)	ZMYM4 (G1286S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193804	NM_005095.3(ZMYM4):c.4186G>A (p.Val1396Ile)	ZMYM4 (V1072I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193805	NM_005095.3(ZMYM4):c.4196A>T (p.His1399Leu)	ZMYM4 (H1367L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490742	NM_005095.3(ZMYM4):c.4384A>G (p.Thr1462Ala)	ZMYM4 (T1462A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193806	NM_005095.3(ZMYM4):c.4490G>A (p.Arg1497His)	ZMYM4 (R1465H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 806420	GRCh37/hg19 1p34.3(chr1:35321300-35944813)x1	DLGAP3, KIAA0319L +6 more	Copy number loss	not provided	GUncertain significance
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 65