"Ambry Genetics"[submitter] AND "ZMYM2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2352145	NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)	ZMYM2 (L190*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GPathogenic
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 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 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 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 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 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 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 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 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 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 2409857	NM_197968.4(ZMYM2):c.1615del (p.Cys539fs)	ZMYM2 (C452fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 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 2281815	NM_197968.4(ZMYM2):c.2203A>G (p.Lys735Glu)	ZMYM2 (K648E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325743	NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)	ZMYM2 (R693* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2559859	NM_197968.4(ZMYM2):c.2459A>C (p.Asp820Ala)	ZMYM2 (D820A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601656	NM_197968.4(ZMYM2):c.2490G>A (p.Met830Ile)	ZMYM2 (M765I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618734	NM_197968.4(ZMYM2):c.2602C>G (p.Gln868Glu)	ZMYM2 (Q868E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300685	NM_197968.4(ZMYM2):c.2727dup (p.Val910fs)	ZMYM2 (V823fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2263871	NM_197968.4(ZMYM2):c.2867T>A (p.Met956Lys)	ZMYM2 (M956K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232480	NM_197968.4(ZMYM2):c.2905A>G (p.Ile969Val)	ZMYM2 (I882V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411623	NM_197968.4(ZMYM2):c.2932A>G (p.Ile978Val)	ZMYM2 (I891V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267709	NM_197968.4(ZMYM2):c.3200G>T (p.Ser1067Ile)	ZMYM2 (S1067I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336328	NM_197968.4(ZMYM2):c.3224G>T (p.Gly1075Val)	ZMYM2 (G1010V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360181	NM_197968.4(ZMYM2):c.3387C>G (p.Ile1129Met)	ZMYM2 (I1129M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256528	NM_197968.4(ZMYM2):c.3404A>G (p.Glu1135Gly)	ZMYM2 (E1048G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224844	NM_197968.4(ZMYM2):c.3407A>C (p.Asn1136Thr)	ZMYM2 (N1136T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248789	NM_197968.4(ZMYM2):c.3455A>G (p.Tyr1152Cys)	ZMYM2 (Y1065C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389148	NM_197968.4(ZMYM2):c.3620T>C (p.Leu1207Pro)	ZMYM2 (L1120P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271110	NM_197968.4(ZMYM2):c.4072G>A (p.Val1358Ile)	ZMYM2 (V1271I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336242	NM_197968.4(ZMYM2):c.4084A>G (p.Lys1362Glu)	ZMYM2 (K1275E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 40