ZMIZ2[gene] and "single gene"[properties] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2510223	NM_031449.4(ZMIZ2):c.11T>C (p.Met4Thr)	ZMIZ2 (M4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366249	NM_031449.4(ZMIZ2):c.20T>G (p.Met7Arg)	ZMIZ2 (M7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601605	NM_031449.4(ZMIZ2):c.41C>T (p.Ala14Val)	ZMIZ2 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193743	NM_031449.4(ZMIZ2):c.94G>A (p.Ala32Thr)	ZMIZ2 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333755	NM_031449.4(ZMIZ2):c.151G>A (p.Ala51Thr)	ZMIZ2 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657437	NM_031449.4(ZMIZ2):c.162C>T (p.Ser54=)	ZMIZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3334793	NM_031449.4(ZMIZ2):c.178C>G (p.Pro60Ala)	ZMIZ2 (P60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334792	NM_031449.4(ZMIZ2):c.244G>A (p.Ala82Thr)	ZMIZ2 (A82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193737	NM_031449.4(ZMIZ2):c.322G>A (p.Val108Met)	ZMIZ2 (V108M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387244	NM_031449.4(ZMIZ2):c.322G>C (p.Val108Leu)	ZMIZ2 (V108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596623	NM_031449.4(ZMIZ2):c.332G>A (p.Arg111His)	ZMIZ2 (R79H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323843	NM_031449.4(ZMIZ2):c.367G>A (p.Gly123Arg)	ZMIZ2 (G123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193738	NM_031449.4(ZMIZ2):c.379G>A (p.Gly127Ser)	ZMIZ2 (G95S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322773	NM_031449.4(ZMIZ2):c.382C>G (p.Pro128Ala)	ZMIZ2 (P128A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193739	NM_031449.4(ZMIZ2):c.383C>T (p.Pro128Leu)	ZMIZ2 (P128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284285	NM_031449.4(ZMIZ2):c.395G>A (p.Gly132Asp)	ZMIZ2 (G100D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330524	NM_031449.4(ZMIZ2):c.400C>G (p.Pro134Ala)	ZMIZ2 (P102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618137	NM_031449.4(ZMIZ2):c.429C>G (p.Asp143Glu)	ZMIZ2 (D111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457170	NM_031449.4(ZMIZ2):c.467C>T (p.Ala156Val)	ZMIZ2 (A156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455857	NM_031449.4(ZMIZ2):c.551C>T (p.Ala184Val)	ZMIZ2 (A152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193741	NM_031449.4(ZMIZ2):c.616G>A (p.Val206Ile)	ZMIZ2 (V174I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596247	NM_031449.4(ZMIZ2):c.655A>G (p.Met219Val)	ZMIZ2 (M187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387252	NM_031449.4(ZMIZ2):c.676C>G (p.Pro226Ala)	ZMIZ2 (P226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193742	NM_031449.4(ZMIZ2):c.691C>T (p.Pro231Ser)	ZMIZ2 (P199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334795	NM_031449.4(ZMIZ2):c.751T>C (p.Tyr251His)	ZMIZ2 (Y251H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334794	NM_031449.4(ZMIZ2):c.776C>T (p.Pro259Leu)	ZMIZ2 (P259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553643	NM_031449.4(ZMIZ2):c.791G>C (p.Gly264Ala)	ZMIZ2 (G264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390200	NM_031449.4(ZMIZ2):c.808T>G (p.Ser270Ala)	ZMIZ2 (S238A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617718	NM_031449.4(ZMIZ2):c.851A>G (p.Tyr284Cys)	ZMIZ2 (Y284C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551473	NM_031449.4(ZMIZ2):c.878C>T (p.Pro293Leu)	ZMIZ2 (P261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193723	NM_031449.4(ZMIZ2):c.1025G>A (p.Ser342Asn)	ZMIZ2 (S342N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290299	NM_031449.4(ZMIZ2):c.1031A>G (p.Asn344Ser)	ZMIZ2 (N344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193724	NM_031449.4(ZMIZ2):c.1079G>A (p.Arg360His)	ZMIZ2 (R334H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335258	NM_031449.4(ZMIZ2):c.1097C>T (p.Pro366Leu)	ZMIZ2 (P308L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193725	NM_031449.4(ZMIZ2):c.1100G>C (p.Ser367Thr)	ZMIZ2 (S309T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193726	NM_031449.4(ZMIZ2):c.1246G>A (p.Gly416Arg)	ZMIZ2 (G416R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522386	NM_031449.4(ZMIZ2):c.1285G>C (p.Asp429His)	ZMIZ2 (D429H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252001	NM_031449.4(ZMIZ2):c.1348C>T (p.Gln450Ter)	ZMIZ2 (Q392* +2 more)	Single nucleotide variant (nonsense)	Death in infancy	GUncertain significance
Select item 2549616	NM_031449.4(ZMIZ2):c.1360T>C (p.Ser454Pro)	ZMIZ2 (S428P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657438	NM_031449.4(ZMIZ2):c.1404A>G (p.Gln468=)	ZMIZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299524	NM_031449.4(ZMIZ2):c.1504G>A (p.Asp502Asn)	ZMIZ2 (D502N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339455	NM_031449.4(ZMIZ2):c.1505A>G (p.Asp502Gly)	ZMIZ2 (D502G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334797	NM_031449.4(ZMIZ2):c.1630C>G (p.Pro544Ala)	ZMIZ2 (P518A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484544	NM_031449.4(ZMIZ2):c.1636G>A (p.Val546Ile)	ZMIZ2 (V546I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193728	NM_031449.4(ZMIZ2):c.1693A>G (p.Ile565Val)	ZMIZ2 (I507V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193729	NM_031449.4(ZMIZ2):c.1723G>A (p.Gly575Ser)	ZMIZ2 (G575S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786900	NM_031449.4(ZMIZ2):c.1905G>C (p.Gly635=)	ZMIZ2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488491	NM_031449.4(ZMIZ2):c.1937C>G (p.Ala646Gly)	ZMIZ2 (A588G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616579	NM_031449.4(ZMIZ2):c.2026C>T (p.Pro676Ser)	ZMIZ2 (P650S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193730	NM_031449.4(ZMIZ2):c.2030C>T (p.Thr677Met)	ZMIZ2 (T651M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365367	NM_031449.4(ZMIZ2):c.2045C>T (p.Pro682Leu)	ZMIZ2 (P656L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363379	NM_031449.4(ZMIZ2):c.2073C>G (p.Ile691Met)	ZMIZ2 (I691M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402136	NM_031449.4(ZMIZ2):c.2105G>A (p.Arg702His)	ZMIZ2 (R676H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334791	NM_031449.4(ZMIZ2):c.2164G>A (p.Ala722Thr)	ZMIZ2 (A722T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341808	NM_031449.4(ZMIZ2):c.2176G>A (p.Gly726Ser)	ZMIZ2 (G726S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544062	NM_031449.4(ZMIZ2):c.2192C>A (p.Ala731Asp)	ZMIZ2 (A705D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322423	NM_031449.4(ZMIZ2):c.2203C>T (p.Pro735Ser)	ZMIZ2 (P735S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546982	NM_031449.4(ZMIZ2):c.2288C>A (p.Pro763His)	ZMIZ2 (P763H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334796	NM_031449.4(ZMIZ2):c.2305C>T (p.Pro769Ser)	ZMIZ2 (P711S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193732	NM_031449.4(ZMIZ2):c.2324C>A (p.Thr775Asn)	ZMIZ2 (T717N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540720	NM_031449.4(ZMIZ2):c.2365A>G (p.Ser789Gly)	ZMIZ2 (S731G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292125	NM_031449.4(ZMIZ2):c.2393C>A (p.Thr798Asn)	ZMIZ2 (T740N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215041	NM_031449.4(ZMIZ2):c.2437C>T (p.Pro813Ser)	ZMIZ2 (P755S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224539	NM_031449.4(ZMIZ2):c.2471C>T (p.Thr824Ile)	ZMIZ2 (T766I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264137	NM_031449.4(ZMIZ2):c.2533C>T (p.Arg845Trp)	ZMIZ2 (R819W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554129	NM_031449.4(ZMIZ2):c.2578G>T (p.Ala860Ser)	ZMIZ2 (A802S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389843	NM_031449.4(ZMIZ2):c.2599G>A (p.Val867Met)	ZMIZ2 (V809M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193734	NM_031449.4(ZMIZ2):c.2609C>T (p.Pro870Leu)	ZMIZ2 (P870L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193735	NM_031449.4(ZMIZ2):c.2617A>G (p.Met873Val)	ZMIZ2 (M847V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193736	NM_031449.4(ZMIZ2):c.2638C>G (p.Pro880Ala)	ZMIZ2 (P854A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472187	NM_031449.4(ZMIZ2):c.2719A>G (p.Thr907Ala)	ZMIZ2 (T849A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289470	NM_031449.4(ZMIZ2):c.2732A>G (p.Asp911Gly)	ZMIZ2 (D853G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313745	NM_031449.4(ZMIZ2):c.2734G>A (p.Asp912Asn)	ZMIZ2 (D886N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612300	NM_031449.4(ZMIZ2):c.2744C>T (p.Ser915Phe)	ZMIZ2 (S857F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 74