ZMYM2[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 193

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157267	CM000675.1:g.20470071_20509959dup	ZMYM2	Duplication	Large for gestational age	Gnot provided
Select item 3057622	NM_197968.4(ZMYM2):c.-7C>T	ZMYM2	Single nucleotide variant (5 prime UTR variant +2 more)	ZMYM2-related disorder	GLikely benign
Select item 2496065	NM_197968.4(ZMYM2):c.41A>C (p.Gln14Pro)	ZMYM2 (Q14P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2636847	NM_197968.4(ZMYM2):c.46C>A (p.Pro16Thr)	ZMYM2 (P16T +1 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 2511822	NM_197968.4(ZMYM2):c.115G>A (p.Ala39Thr)	ZMYM2 (A39T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368768	NM_197968.4(ZMYM2):c.140A>G (p.Asn47Ser)	ZMYM2 (N47S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407396	NM_197968.4(ZMYM2):c.155C>T (p.Ser52Leu)	ZMYM2 (S52L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613581	NM_197968.4(ZMYM2):c.244A>G (p.Ile82Val)	ZMYM2 (I104V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2497925	NM_197968.4(ZMYM2):c.273A>T (p.Glu91Asp)	ZMYM2 (E113D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1709647	NM_197968.4(ZMYM2):c.275_278dup (p.Gln93fs)	ZMYM2 (Q115fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 771461	NM_197968.4(ZMYM2):c.276A>G (p.Leu92=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	ZMYM2-related disorder +1 more	GBenign/Likely benign
Select item 2581699	NM_197968.4(ZMYM2):c.289T>G (p.Ser97Ala)	ZMYM2 (S119A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1804249	NM_197968.4(ZMYM2):c.332G>A (p.Gly111Glu)	ZMYM2 (G111E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1710427	NM_197968.4(ZMYM2):c.337del (p.Ser112_Val113insTer)	ZMYM2	Deletion (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 3039966	NM_197968.4(ZMYM2):c.369G>A (p.Glu123=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	ZMYM2-related disorder	GLikely benign
Select item 2497781	NM_197968.4(ZMYM2):c.371A>T (p.Asp124Val)	ZMYM2 (D124V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2396225	NM_197968.4(ZMYM2):c.391C>T (p.Gln131Ter)	ZMYM2 (Q153* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3048386	NM_197968.4(ZMYM2):c.421C>T (p.Arg141Ter)	ZMYM2 (R141* +1 more)	Single nucleotide variant (nonsense +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 3193776	NM_197968.4(ZMYM2):c.437C>G (p.Thr146Ser)	ZMYM2 (T146S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710811	NM_197968.4(ZMYM2):c.454G>C (p.Asp152His)	ZMYM2 (D152H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2352145	NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)	ZMYM2 (L190*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 1344767	NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter)	ZMYM2 (R208*)	Single nucleotide variant (nonsense +2 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 2635041	NM_197968.4(ZMYM2):c.628A>G (p.Met210Val)	ZMYM2 (M210V)	Single nucleotide variant (missense variant +2 more)	ZMYM2-related disorder	GUncertain significance
Select item 2269686	NM_197968.4(ZMYM2):c.638T>C (p.Met213Thr)	ZMYM2 (M213T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1800812	NM_197968.4(ZMYM2):c.640_641dup (p.Thr215fs)	ZMYM2 (T215fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2523090	NM_197968.4(ZMYM2):c.695T>A (p.Leu232Gln)	ZMYM2 (L232Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2247079	NM_197968.4(ZMYM2):c.728C>T (p.Thr243Ile)	ZMYM2 (T243I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1264314	NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer)	ZMYM2	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 2637211	NM_197968.4(ZMYM2):c.799G>T (p.Ala267Ser)	ZMYM2 (A180S +2 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 2477438	NM_197968.4(ZMYM2):c.910T>A (p.Leu304Ile)	ZMYM2 (L217I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233750	NM_197968.4(ZMYM2):c.919G>A (p.Val307Met)	ZMYM2 (V220M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637601	NM_197968.4(ZMYM2):c.950C>T (p.Pro317Leu)	ZMYM2 (P230L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286418	NM_197968.4(ZMYM2):c.953C>T (p.Ser318Phe)	ZMYM2 (S318F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803263	NM_197968.4(ZMYM2):c.978del (p.Val327fs)	ZMYM2 (V240fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 1687427	NM_197968.4(ZMYM2):c.1008_1009insG (p.Pro337fs)	ZMYM2 (P250fs +2 more)	Insertion (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1804385	NM_197968.4(ZMYM2):c.1009C>A (p.Pro337Thr)	ZMYM2 (P250T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627843	NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter)	ZMYM2 (L251* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GPathogenic
Select item 1701910	NM_197968.4(ZMYM2):c.1020_1024dup (p.Gln342fs)	ZMYM2 (Q255fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2226845	NM_197968.4(ZMYM2):c.1026_1027del (p.Gln342fs)	ZMYM2 (Q255fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2506120	NM_197968.4(ZMYM2):c.1039C>T (p.Arg347Ter)	ZMYM2 (R260* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 2620406	NM_197968.4(ZMYM2):c.1057C>T (p.Leu353Phe)	ZMYM2 (L266F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2575740	NM_197968.4(ZMYM2):c.1088T>C (p.Phe363Ser)	ZMYM2 (F276S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1373966	NM_197968.4(ZMYM2):c.1095del (p.His365fs)	ZMYM2 (H365fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3029199	NM_197968.4(ZMYM2):c.1111A>T (p.Lys371Ter)	ZMYM2 (K284* +2 more)	Single nucleotide variant (nonsense +1 more)	ZMYM2-related disorder	GLikely pathogenic
Select item 3075724	NM_197968.4(ZMYM2):c.1120_1121del (p.Val374fs)	ZMYM2 (V287fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 2210008	NM_197968.4(ZMYM2):c.1129A>T (p.Lys377Ter)	ZMYM2 (K312* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2518350	NM_197968.4(ZMYM2):c.1171G>A (p.Val391Met)	ZMYM2 (V391M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717358	NM_197968.4(ZMYM2):c.1173G>A (p.Val391=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1344768	NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter)	ZMYM2 (Q311* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 690285	NM_197968.4(ZMYM2):c.1193A>G (p.Gln398Arg)	ZMYM2 (Q311R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505678	NM_197968.4(ZMYM2):c.1208C>T (p.Thr403Ile)	ZMYM2 (T316I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3193765	NM_197968.4(ZMYM2):c.1211C>G (p.Ser404Cys)	ZMYM2 (S404C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053833	NM_197968.4(ZMYM2):c.1212T>G (p.Ser404=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	ZMYM2-related disorder	GLikely benign
Select item 784266	NM_197968.4(ZMYM2):c.1233C>T (p.Asp411=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1700561	NM_197968.4(ZMYM2):c.1262A>G (p.Asn421Ser)	ZMYM2 (N334S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497835	NM_197968.4(ZMYM2):c.1274G>A (p.Cys425Tyr)	ZMYM2 (C338Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1309049	NM_197968.4(ZMYM2):c.1299+1G>T	ZMYM2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2663008	NM_197968.4(ZMYM2):c.1303C>G (p.Arg435Gly)	ZMYM2 (R348G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2268149	NM_197968.4(ZMYM2):c.1304G>T (p.Arg435Leu)	ZMYM2 (R348L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1804076	NM_197968.4(ZMYM2):c.1309G>T (p.Glu437Ter)	ZMYM2 (E350* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 2601405	NM_197968.4(ZMYM2):c.1328T>C (p.Met443Thr)	ZMYM2 (M378T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1344769	NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter)	ZMYM2 (Y369* +2 more)	Duplication (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1701909	NM_197968.4(ZMYM2):c.1397dup (p.Cys466fs)	ZMYM2 (C379fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1804077	NM_197968.4(ZMYM2):c.1398C>A (p.Cys466Ter)	ZMYM2 (C379* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 2315493	NM_197968.4(ZMYM2):c.1426A>G (p.Ser476Gly)	ZMYM2 (S476G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2662742	NM_197968.4(ZMYM2):c.1516G>T (p.Gly506Cys)	ZMYM2 (G419C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643666	NM_197968.4(ZMYM2):c.1557G>A (p.Met519Ile)	ZMYM2 (M432I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 783676	NM_197968.4(ZMYM2):c.1593A>G (p.Gly531=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1712900	NM_197968.4(ZMYM2):c.1598T>C (p.Leu533Pro)	ZMYM2 (L446P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1264313	NM_197968.4(ZMYM2):c.1607del (p.Cys536fs)	ZMYM2 (C449fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 2409857	NM_197968.4(ZMYM2):c.1615del (p.Cys539fs)	ZMYM2 (C452fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1264312	NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter)	ZMYM2 (R540* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1344770	NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs)	ZMYM2 (C456fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 2662049	NM_197968.4(ZMYM2):c.1633T>C (p.Phe545Leu)	ZMYM2 (F458L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2469362	NM_197968.4(ZMYM2):c.1642A>G (p.Met548Val)	ZMYM2 (M461V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1455391	NM_197968.4(ZMYM2):c.1648C>T (p.Gln550Ter)	ZMYM2 (Q550* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1302270	NM_197968.4(ZMYM2):c.1654A>G (p.Ile552Val)	ZMYM2 (I465V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504219	NM_197968.4(ZMYM2):c.1718A>C (p.Lys573Thr)	ZMYM2 (K486T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2549649	NM_197968.4(ZMYM2):c.1726A>G (p.Lys576Glu)	ZMYM2 (K511E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570855	NM_197968.4(ZMYM2):c.1730C>G (p.Ser577Ter)	ZMYM2 (S490* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1306345	NM_197968.4(ZMYM2):c.1735+1G>A	ZMYM2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 982430	NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)	ZMYM2 (R502* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2504133	NM_197968.4(ZMYM2):c.1798C>T (p.Pro600Ser)	ZMYM2 (P513S +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2578277	NM_197968.4(ZMYM2):c.1818C>G (p.Asn606Lys)	ZMYM2 (N519K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575566	NM_197968.4(ZMYM2):c.1831A>G (p.Ser611Gly)	ZMYM2 (S524G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663331	NM_197968.4(ZMYM2):c.1837G>T (p.Val613Leu)	ZMYM2 (V526L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708147	NM_197968.4(ZMYM2):c.1856dup (p.Ser620fs)	ZMYM2 (S533fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 2501512	NM_197968.4(ZMYM2):c.1871C>T (p.Ser624Phe)	ZMYM2 (S537F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3193766	NM_197968.4(ZMYM2):c.1898G>T (p.Ser633Ile)	ZMYM2 (S546I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2633392	NM_197968.4(ZMYM2):c.1898G>A (p.Ser633Asn)	ZMYM2 (S546N +2 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 2636180	NM_197968.4(ZMYM2):c.1928A>G (p.Lys643Arg)	ZMYM2 (K556R +2 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 2430059	NM_197968.4(ZMYM2):c.1943C>G (p.Ser648Ter)	ZMYM2 (S561* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1309975	NM_197968.4(ZMYM2):c.1981C>T (p.Gln661Ter)	ZMYM2 (Q574* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3193767	NM_197968.4(ZMYM2):c.1990A>G (p.Ser664Gly)	ZMYM2 (S599G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2431769	NM_197968.4(ZMYM2):c.2003C>G (p.Ser668Ter)	ZMYM2 (S581* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1312065	NM_197968.4(ZMYM2):c.2035dup (p.Thr679fs)	ZMYM2 (T592fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1254735	NM_197968.4(ZMYM2):c.2040T>C (p.Tyr680=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2442527	NM_197968.4(ZMYM2):c.2054_2055del (p.Gln685fs)	ZMYM2 (Q598fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1723738	NM_197968.4(ZMYM2):c.2073T>G (p.His691Gln)	ZMYM2 (H604Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3058569	NM_197968.4(ZMYM2):c.2082A>G (p.Val694=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	ZMYM2-related disorder	GLikely benign

<< First< Prev

Page of 2