ZMYND8[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2471296	NM_001281775.3(ZMYND8):c.3689A>C (p.Asp1230Ala)	ZMYND8 (D1131A +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193863	NM_001281775.3(ZMYND8):c.3667C>T (p.Leu1223Phe)	ZMYND8 (L1149F +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334850	NM_001281775.3(ZMYND8):c.3641A>G (p.Asn1214Ser)	ZMYND8 (N1087S +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049108	NM_001281775.3(ZMYND8):c.3623C>T (p.Ser1208Leu)	ZMYND8 (S1028L +17 more)	Single nucleotide variant (missense variant)	ZMYND8-related disorder	GLikely benign
Select item 3193862	NM_001281775.3(ZMYND8):c.3551A>G (p.Asn1184Ser)	ZMYND8 (N1057S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334849	NM_001281775.3(ZMYND8):c.3542C>T (p.Pro1181Leu)	ZMYND8 (P1110L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193861	NM_001281775.3(ZMYND8):c.3446C>T (p.Thr1149Met)	ZMYND8 (T1022M +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652373	NM_001281775.3(ZMYND8):c.3435C>T (p.Gly1145=)	ZMYND8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483590	NM_001281775.3(ZMYND8):c.3386C>T (p.Thr1129Met)	ZMYND8 (T1063M +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408090	NM_001281775.3(ZMYND8):c.3367G>A (p.Ala1123Thr)	ZMYND8 (A1057T +12 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389232	NM_001281775.3(ZMYND8):c.3332C>T (p.Ser1111Leu)	ZMYND8 (S1086L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364437	NM_001281775.3(ZMYND8):c.3155A>G (p.Lys1052Arg)	ZMYND8 (K1027R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472521	NM_001281775.3(ZMYND8):c.3115G>A (p.Val1039Met)	ZMYND8 (V1014M +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235857	NM_001281775.3(ZMYND8):c.3075C>G (p.Ala1025=)	ZMYND8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2136253	NM_001281775.3(ZMYND8):c.3030_3040del (p.Met1012fs)	ZMYND8 (M1019fs +12 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2391639	NM_001281775.3(ZMYND8):c.2941C>T (p.Arg981Cys)	ZMYND8 (R854C +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334847	NM_001281775.3(ZMYND8):c.2791G>A (p.Ala931Thr)	ZMYND8 (A813T +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632684	NM_001281775.3(ZMYND8):c.2791G>T (p.Ala931Ser)	ZMYND8 (A617S +11 more)	Single nucleotide variant (missense variant)	ZMYND8-related disorder	GUncertain significance
Select item 3193860	NM_001281775.3(ZMYND8):c.2766G>T (p.Met922Ile)	ZMYND8 (M770I +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574875	NM_001281775.3(ZMYND8):c.2759G>A (p.Gly920Glu)	ZMYND8 (G606E +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334854	NM_001281775.3(ZMYND8):c.2738C>T (p.Ser913Leu)	ZMYND8 (S795L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 431111	NM_001281775.3(ZMYND8):c.2629C>T (p.Gln877Ter)	ZMYND8 (Q877* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability	GUncertain significance
Select item 3373559	NM_001281775.3(ZMYND8):c.2597_2617del (p.Gln866_Gln872del)	ZMYND8	Deletion (intron variant)	not provided	GUncertain significance
Select item 2476493	NM_001281775.3(ZMYND8):c.2488A>G (p.Thr830Ala)	ZMYND8 (T758A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3376813	NM_001281775.3(ZMYND8):c.2447G>A (p.Gly816Glu)	ZMYND8 (G548E +5 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2211156	NM_001281775.3(ZMYND8):c.2440G>A (p.Ala814Thr)	ZMYND8 (A546T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383720	NM_001281775.3(ZMYND8):c.2435C>G (p.Pro812Arg)	ZMYND8 (P740R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272031	NM_001281775.3(ZMYND8):c.2428C>T (p.Pro810Ser)	ZMYND8 (P738S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635927	NM_001281775.3(ZMYND8):c.2405C>T (p.Ser802Phe)	ZMYND8 (S534F +5 more)	Single nucleotide variant (missense variant +1 more)	ZMYND8-related disorder	GUncertain significance
Select item 2631752	NM_001281775.3(ZMYND8):c.2386A>C (p.Thr796Pro)	ZMYND8 (T528P +5 more)	Single nucleotide variant (missense variant +1 more)	ZMYND8-related disorder	GUncertain significance
Select item 2457073	NM_001281775.3(ZMYND8):c.2375C>T (p.Ala792Val)	ZMYND8 (A524V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387679	NM_001281775.3(ZMYND8):c.2363C>T (p.Ala788Val)	ZMYND8 (A520V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482046	NM_001281775.3(ZMYND8):c.2317G>A (p.Gly773Ser)	ZMYND8 (G701S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771780	NM_001281775.3(ZMYND8):c.2313G>A (p.Thr771=)	ZMYND8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1690418	NM_001281775.3(ZMYND8):c.2285-3T>C	ZMYND8	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2603676	NM_001281775.3(ZMYND8):c.2230C>T (p.Arg744Trp)	ZMYND8 (R744W +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221697	NM_001281775.3(ZMYND8):c.2147C>T (p.Thr716Met)	ZMYND8 (T448M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342757	NM_001281775.3(ZMYND8):c.2129T>C (p.Leu710Pro)	ZMYND8 (L442P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363946	NM_001281775.3(ZMYND8):c.2060C>T (p.Ala687Val)	ZMYND8 (A419V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334848	NM_001281775.3(ZMYND8):c.2038C>T (p.Pro680Ser)	ZMYND8 (P655S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024541	NM_001281775.3(ZMYND8):c.1964dup (p.Pro656fs)	ZMYND8 (P388fs +5 more)	Duplication (frameshift variant)	ZMYND8-associated neurodevelopmental disorder	GUncertain significance
Select item 2692521	NM_001281775.3(ZMYND8):c.1960_1964del (p.Lys654fs)	ZMYND8 (K634fs +5 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 2315153	NM_001281775.3(ZMYND8):c.1931A>G (p.Gln644Arg)	ZMYND8 (Q644R +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536105	NM_001281775.3(ZMYND8):c.1864T>C (p.Tyr622His)	ZMYND8 (Y550H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582139	NM_001281775.3(ZMYND8):c.1834T>C (p.Ser612Pro)	ZMYND8 (S344P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334855	NM_001281775.3(ZMYND8):c.1690C>A (p.Pro564Thr)	ZMYND8 (P539T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777918	NM_001281775.3(ZMYND8):c.1687G>C (p.Val563Leu)	ZMYND8 (V538L +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2236023	NM_001281775.3(ZMYND8):c.1677G>T (p.Gln559His)	ZMYND8 (Q539H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513398	NM_001281775.3(ZMYND8):c.1568C>T (p.Thr523Met)	ZMYND8 (T255M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531649	NM_001281775.3(ZMYND8):c.1559C>G (p.Ala520Gly)	ZMYND8 (A495G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193857	NM_001281775.3(ZMYND8):c.1525G>A (p.Gly509Ser)	ZMYND8 (G241S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786438	NM_001281775.3(ZMYND8):c.1480+10G>A	ZMYND8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2342849	NM_001281775.3(ZMYND8):c.1464C>G (p.Phe488Leu)	ZMYND8 (F463L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511874	NM_001281775.3(ZMYND8):c.1424C>T (p.Thr475Met)	ZMYND8 (T207M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372973	NM_001281775.3(ZMYND8):c.1396G>A (p.Val466Met)	ZMYND8 (V446M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314761	NM_001281775.3(ZMYND8):c.1361T>C (p.Met454Thr)	ZMYND8 (M186T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297678	NM_001281775.3(ZMYND8):c.1334C>T (p.Ser445Phe)	ZMYND8 (S452F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348580	NM_001281775.3(ZMYND8):c.1299G>T (p.Lys433Asn)	ZMYND8 (K165N +4 more)	Single nucleotide variant (missense variant)	ZMYND8-related disorder	GUncertain significance
Select item 3338494	NM_001281775.3(ZMYND8):c.1198G>C (p.Asp400His)	ZMYND8 (D132H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712278	NM_001281775.3(ZMYND8):c.990A>G (p.Gln330=)	ZMYND8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652374	NM_001281775.3(ZMYND8):c.948A>G (p.Leu316=)	ZMYND8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3364909	NM_001281775.3(ZMYND8):c.882+6T>C	ZMYND8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365480	NM_001281775.3(ZMYND8):c.856C>T (p.Arg286Ter)	ZMYND8 (R18* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1703939	NM_001281775.3(ZMYND8):c.805A>G (p.Met269Val)	ZMYND8 (M1V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3365704	NM_001281775.3(ZMYND8):c.787A>G (p.Lys263Glu)	ZMYND8 (K238E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366054	NM_001281775.3(ZMYND8):c.749G>A (p.Gly250Glu)	ZMYND8 (G225E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1700853	NM_001281775.3(ZMYND8):c.730T>C (p.Cys244Arg)	ZMYND8 (C219R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3193864	NM_001281775.3(ZMYND8):c.708T>A (p.Asp236Glu)	ZMYND8 (D236E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234745	NM_001281775.3(ZMYND8):c.689C>A (p.Thr230Lys)	ZMYND8 (T205K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501605	NM_001281775.3(ZMYND8):c.661A>C (p.Asn221His)	ZMYND8 (N196H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 786680	NM_001281775.3(ZMYND8):c.660+10C>T	ZMYND8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319165	NM_001281775.3(ZMYND8):c.639G>A (p.Met213Ile)	ZMYND8 (M188I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483259	NM_001281775.3(ZMYND8):c.503T>C (p.Met168Thr)	ZMYND8 (M143T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307040	NM_001281775.3(ZMYND8):c.426G>C (p.Glu142Asp)	ZMYND8 (E117D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334851	NM_001281775.3(ZMYND8):c.306G>A (p.Pro102=)	ZMYND8	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3253257	NM_001281775.3(ZMYND8):c.190A>C (p.Lys64Gln)	ZMYND8 (K44Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3193859	NM_001281775.3(ZMYND8):c.184A>G (p.Ile62Val)	ZMYND8 (I69V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212892	NM_001281775.3(ZMYND8):c.149A>G (p.Asn50Ser)	ZMYND8 (N30S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554499	NM_001281775.3(ZMYND8):c.33A>G (p.Ile11Met)	ZMYND8 (I18M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249570	NM_001281775.3(ZMYND8):c.18G>T (p.Leu6Phe)	ZMYND8 (L11F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340350	GRCh37/hg19 20q13.12(chr20:45626379-46257019)x3	EYA2, NCOA3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 561977	GRCh37/hg19 20q13.12(chr20:45756621-45846429)x3	ZMYND8, EYA2	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 3361795	NM_001281775.3(ZMYND8):c.637A>G (p.Met213Val)	ZMYND8 (M188V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359760	NM_001281775.3(ZMYND8):c.3183G>A (p.Trp1061Ter)	ZMYND8 (W1015* +12 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 91