Related gene-specific medical variations for Gene (Select 23036) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372473	NM_015021.3(ZNF292):c.168+4A>T	LOC129996783, ZNF292	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3362458	NM_015021.3(ZNF292):c.995T>C (p.Phe332Ser)	ZNF292 (F192S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3361621	NM_015021.3(ZNF292):c.5285T>C (p.Ile1762Thr)	ZNF292 (I1622T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361489	NM_015021.3(ZNF292):c.4746T>A (p.Asn1582Lys)	ZNF292 (N1442K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360753	NM_015021.3(ZNF292):c.4493G>T (p.Gly1498Val)	ZNF292 (G1358V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359453	NM_015021.3(ZNF292):c.554C>T (p.Ala185Val)	ZNF292 (A185V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239098	NM_015021.3(ZNF292):c.48C>A (p.Gly16=)	LOC129996783, ZNF292	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3067823	NM_015021.3(ZNF292):c.6239G>T (p.Arg2080Leu)	ZNF292 (R1940L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3065419	NM_015021.3(ZNF292):c.5845T>C (p.Cys1949Arg)	ZNF292 (C1809R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3064908	NM_015021.3(ZNF292):c.4153A>T (p.Thr1385Ser)	ZNF292 (T1245S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 3055234	NM_015021.3(ZNF292):c.39C>T (p.Cys13=)	LOC129996783, ZNF292	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF292-related disorder	GLikely benign
Select item 3032452	NM_015021.3(ZNF292):c.19G>A (p.Glu7Lys)	LOC129996783, ZNF292 (E7K)	Single nucleotide variant (5 prime UTR variant +1 more)	ZNF292-related disorder	GUncertain significance
Select item 2690463	NM_015021.3(ZNF292):c.4594A>G (p.Thr1532Ala)	ZNF292 (T1392A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2582508	NM_015021.3(ZNF292):c.4717A>C (p.Asn1573His)	ZNF292 (N1433H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2581099	NM_015021.3(ZNF292):c.2038_2041del (p.Glu680fs)	ZNF292 (E540fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 2579139	NM_015021.3(ZNF292):c.1021-3C>T	ZNF292	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2576756	NM_015021.3(ZNF292):c.79G>C (p.Glu27Gln)	LOC129996783, ZNF292 (E27Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2576539	NM_015021.3(ZNF292):c.61G>C (p.Glu21Gln)	LOC129996783, ZNF292 (E21Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 2573037	NM_015021.3(ZNF292):c.2T>G (p.Met1Arg)	LOC129996783, ZNF292 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438680	NM_015021.3(ZNF292):c.505A>C (p.Ile169Leu)	ZNF292 (I169L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438678	NM_015021.3(ZNF292):c.5492C>T (p.Ser1831Leu)	ZNF292 (S1691L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438677	NM_015021.3(ZNF292):c.3736C>G (p.Leu1246Val)	ZNF292 (L1106V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438676	NM_015021.3(ZNF292):c.6905T>C (p.Met2302Thr)	ZNF292 (M2162T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438675	NM_015021.3(ZNF292):c.5149G>A (p.Ala1717Thr)	ZNF292 (A1577T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438674	NM_015021.3(ZNF292):c.3761A>G (p.Asn1254Ser)	ZNF292 (N1114S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438673	NM_015021.3(ZNF292):c.3903T>G (p.Ile1301Met)	ZNF292 (I1161M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2438672	NM_015021.3(ZNF292):c.5218_5220delinsGTG (p.Ile1740Val)	ZNF292 (I1600V +1 more)	Indel (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GUncertain significance
Select item 2429942	NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)	ZNF292 (E2024fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 64	GLikely pathogenic
Select item 2390018	NM_015021.3(ZNF292):c.47G>C (p.Gly16Ala)	LOC129996783, ZNF292 (G16A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386548	NM_015021.3(ZNF292):c.58G>A (p.Ala20Thr)	LOC129996783, ZNF292 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2349899	NM_015021.3(ZNF292):c.68A>C (p.Gln23Pro)	LOC129996783, ZNF292 (Q23P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2250076	NM_015021.3(ZNF292):c.40G>A (p.Gly14Ser)	LOC129996783, ZNF292 (G14S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700144	NM_015021.3(ZNF292):c.2291dup (p.Tyr764Ter)	ZNF292 (Y624* +1 more)	Duplication (nonsense)	Neurodevelopmental delay	GPathogenic
Select item 1676475	NM_015021.3(ZNF292):c.7021T>A (p.Leu2341Ile)	ZNF292 (L2201I +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1319773	NM_015021.3(ZNF292):c.6884dup (p.Leu2295fs)	ZNF292 (L2155fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1318490	NM_015021.3(ZNF292):c.118C>T (p.Arg40Trp)	LOC129996783, ZNF292 (R40W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1315681	NM_015021.3(ZNF292):c.82C>T (p.Arg28Trp)	LOC129996783, ZNF292 (R28W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 987255	NM_015021.3(ZNF292):c.6220_6223del (p.Asn2074fs)	ZNF292 (N1934fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987142	NM_015021.3(ZNF292):c.1711del (p.Cys571fs)	ZNF292 (C431fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986926	NM_015021.3(ZNF292):c.3014T>G (p.Leu1005Ter)	ZNF292 (L1005* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 932591	NM_015021.3(ZNF292):c.5675_5678del (p.Ile1892fs)	ZNF292 (I1892fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Links from Gene

Items: 41