ZMYM1[gene] - ClinVar

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Items: 61

	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 2354081	NM_024772.5(ZMYM1):c.85G>A (p.Asp29Asn)	ZMYM1 (D29N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193758	NM_024772.5(ZMYM1):c.244A>G (p.Thr82Ala)	ZMYM1 (T7A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411238	NM_024772.5(ZMYM1):c.466A>G (p.Thr156Ala)	ZMYM1 (T156A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193762	NM_024772.5(ZMYM1):c.541A>G (p.Ile181Val)	ZMYM1 (I106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278383	NM_024772.5(ZMYM1):c.641G>A (p.Ser214Asn)	ZMYM1 (S214N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193763	NM_024772.5(ZMYM1):c.685A>G (p.Met229Val)	ZMYM1 (M154V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319708	NM_024772.5(ZMYM1):c.739C>G (p.His247Asp)	ZMYM1 (H247D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317422	NM_024772.5(ZMYM1):c.810A>T (p.Lys270Asn)	ZMYM1 (K270N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398503	NM_024772.5(ZMYM1):c.877A>T (p.Thr293Ser)	ZMYM1 (T218S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193764	NM_024772.5(ZMYM1):c.878C>T (p.Thr293Met)	ZMYM1 (T218M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535675	NM_024772.5(ZMYM1):c.898G>C (p.Glu300Gln)	ZMYM1 (E225Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318362	NM_024772.5(ZMYM1):c.994A>G (p.Thr332Ala)	ZMYM1 (T257A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543361	NM_024772.5(ZMYM1):c.1063G>A (p.Asp355Asn)	ZMYM1 (D280N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334803	NM_024772.5(ZMYM1):c.1083G>A (p.Met361Ile)	ZMYM1 (M1I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611043	NM_024772.5(ZMYM1):c.1097T>C (p.Leu366Ser)	ZMYM1 (L6S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515323	NM_024772.5(ZMYM1):c.1129G>A (p.Ala377Thr)	ZMYM1 (A358T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212037	NM_024772.5(ZMYM1):c.1213G>A (p.Val405Ile)	ZMYM1 (V330I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193749	NM_024772.5(ZMYM1):c.1236C>G (p.Phe412Leu)	ZMYM1 (F337L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334804	NM_024772.5(ZMYM1):c.1420G>T (p.Val474Leu)	ZMYM1 (V114L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193750	NM_024772.5(ZMYM1):c.1490C>T (p.Thr497Ile)	ZMYM1 (T478I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193751	NM_024772.5(ZMYM1):c.1495G>A (p.Gly499Arg)	ZMYM1 (G139R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479765	NM_024772.5(ZMYM1):c.1621T>G (p.Ser541Ala)	ZMYM1 (S466A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388627	NM_024772.5(ZMYM1):c.1835A>G (p.Tyr612Cys)	ZMYM1 (Y252C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496578	NM_024772.5(ZMYM1):c.1862T>C (p.Ile621Thr)	ZMYM1 (I602T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193752	NM_024772.5(ZMYM1):c.1870A>G (p.Ile624Val)	ZMYM1 (I264V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537486	NM_024772.5(ZMYM1):c.1933A>G (p.Ile645Val)	ZMYM1 (I285V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193753	NM_024772.5(ZMYM1):c.1936A>G (p.Ile646Val)	ZMYM1 (I286V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213976	NM_024772.5(ZMYM1):c.2134C>A (p.His712Asn)	ZMYM1 (H352N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266663	NM_024772.5(ZMYM1):c.2176T>C (p.Phe726Leu)	ZMYM1 (F366L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595866	NM_024772.5(ZMYM1):c.2229A>G (p.Ile743Met)	ZMYM1 (I668M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235218	NM_024772.5(ZMYM1):c.2256A>C (p.Leu752Phe)	ZMYM1 (L392F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193755	NM_024772.5(ZMYM1):c.2260A>G (p.Ile754Val)	ZMYM1 (I735V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193756	NM_024772.5(ZMYM1):c.2296A>G (p.Ser766Gly)	ZMYM1 (S691G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193757	NM_024772.5(ZMYM1):c.2322G>C (p.Leu774Phe)	ZMYM1 (L414F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193759	NM_024772.5(ZMYM1):c.2531A>T (p.Asp844Val)	ZMYM1 (D769V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193760	NM_024772.5(ZMYM1):c.2552C>T (p.Thr851Ile)	ZMYM1 (T491I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325579	NM_024772.5(ZMYM1):c.2833G>A (p.Val945Ile)	ZMYM1 (V945I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235436	NM_024772.5(ZMYM1):c.2857A>G (p.Met953Val)	ZMYM1 (M878V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334802	NM_024772.5(ZMYM1):c.2951C>T (p.Ser984Leu)	ZMYM1 (S909L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403405	NM_024772.5(ZMYM1):c.3063G>C (p.Glu1021Asp)	ZMYM1 (E946D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193761	NM_024772.5(ZMYM1):c.3073C>G (p.Pro1025Ala)	ZMYM1 (P1006A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559802	NM_024772.5(ZMYM1):c.3092G>A (p.Arg1031Gln)	ZMYM1 (R1012Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361967	NM_024772.5(ZMYM1):c.3142G>A (p.Val1048Ile)	ZMYM1 (V973I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211382	NM_024772.5(ZMYM1):c.3151G>A (p.Gly1051Ser)	ZMYM1 (G1032S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232220	NM_024772.5(ZMYM1):c.3157T>G (p.Leu1053Val)	ZMYM1 (L1053V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334805	NM_024772.5(ZMYM1):c.3305G>T (p.Gly1102Val)	ZMYM1 (G1027V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357740	NM_024772.5(ZMYM1):c.3406A>G (p.Ile1136Val)	ZMYM1 (I1117V +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
Select item 221777	GRCh37/hg19 1p34.3(chr1:35570364-35656664)x3	SFPQ, ZMYM1	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 61