"NOTCH2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032797	NM_024408.4(NOTCH2):c.*9A>C	NOTCH2	Single nucleotide variant (3 prime UTR variant)	NOTCH2-related disorder	GLikely benign
Select item 196924	NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3028996	NM_024408.4(NOTCH2):c.7412C>T (p.Ala2471Val)	NOTCH2 (A2471V)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2068546	NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +1 more	GLikely benign
Select item 289980	NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +5 more	GBenign/Likely benign
Select item 497629	NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)	NOTCH2 (R2400Q)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2096763	NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr)	NOTCH2 (P2387T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1616924	NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +1 more	GLikely benign
Select item 1574670	NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GLikely benign
Select item 3030094	NM_024408.4(NOTCH2):c.7127T>C (p.Phe2376Ser)	NOTCH2 (F2376S)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3049088	NM_024408.4(NOTCH2):c.7090C>T (p.Gln2364Ter)	NOTCH2 (Q2364*)	Single nucleotide variant (nonsense)	NOTCH2-related disorder	GLikely pathogenic
Select item 596091	NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1561094	NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 593210	NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser)	NOTCH2 (P2329S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 498688	NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 196925	NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val)	NOTCH2 (A2319V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 2630613	NM_024408.4(NOTCH2):c.6947C>T (p.Ala2316Val)	NOTCH2 (A2316V)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 291198	NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)	NOTCH2 (R2298Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1440665	NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro)	NOTCH2 (H2293P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 2630625	NM_024408.4(NOTCH2):c.6851C>A (p.Pro2284His)	NOTCH2 (P2284H)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3048453	NM_024408.4(NOTCH2):c.6794A>G (p.Asn2265Ser)	NOTCH2 (N2265S)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 499864	NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)	NOTCH2 (R2256H)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +4 more	GUncertain significance
Select item 196926	NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)	NOTCH2 (R2256C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3029325	NM_024408.4(NOTCH2):c.6756T>C (p.Asp2252=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 1643888	NM_024408.4(NOTCH2):c.6711T>C (p.Ser2237=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +1 more	GLikely benign
Select item 594888	NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)	NOTCH2 (A2188T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 598276	NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3030329	NM_024408.4(NOTCH2):c.6513A>G (p.Thr2171=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 288692	NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 946387	NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs)	NOTCH2 (L2135fs)	Microsatellite (frameshift variant)	Hajdu-Cheney syndrome +1 more	GPathogenic
Select item 291023	NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)	NOTCH2 (K2121N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1395647	NM_024408.4(NOTCH2):c.6343A>G (p.Ser2115Gly)	NOTCH2 (S2115G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 595680	NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)	NOTCH2 (S2103T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3057537	NM_024408.4(NOTCH2):c.6273C>T (p.Phe2091=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 134985	NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)	NOTCH2 (V2075M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 829922	NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys)	NOTCH2 (R2060C)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 2573613	NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 501328	NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln)	NOTCH2 (R2051Q)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +2 more	GUncertain significance
Select item 2631769	NM_024408.4(NOTCH2):c.6106C>G (p.Arg2036Gly)	NOTCH2 (R2036G)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 286650	NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)	NOTCH2 (H2032N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 288194	NM_024408.4(NOTCH2):c.6028-4G>A	NOTCH2	Single nucleotide variant (intron variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2631510	NM_024408.4(NOTCH2):c.5975C>T (p.Ala1992Val)	NOTCH2 (A1992V)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3040140	NM_024408.4(NOTCH2):c.5924A>C (p.Asp1975Ala)	NOTCH2 (D1975A)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2636754	NM_024408.4(NOTCH2):c.5878G>A (p.Val1960Met)	NOTCH2 (V1960M)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +1 more	GUncertain significance
Select item 289122	NM_024408.4(NOTCH2):c.5781+10A>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3038247	NM_024408.4(NOTCH2):c.5619A>C (p.Thr1873=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 3033260	NM_024408.4(NOTCH2):c.5615A>G (p.Gln1872Arg)	NOTCH2 (Q1872R)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2632636	NM_024408.4(NOTCH2):c.5542G>A (p.Asp1848Asn)	NOTCH2 (D1848N)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3044806	NM_024408.4(NOTCH2):c.5484C>G (p.Gly1828=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 2180719	NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys)	NOTCH2 (R1824C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 2880814	NM_024408.4(NOTCH2):c.5403G>T (p.Arg1801Ser)	NOTCH2 (R1801S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2152570	NM_024408.4(NOTCH2):c.5401A>G (p.Arg1801Gly)	NOTCH2 (R1801G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GBenign/Likely benign
Select item 3032244	NM_024408.4(NOTCH2):c.5255C>T (p.Thr1752Ile)	NOTCH2 (T1752I)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 1590104	NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GBenign/Likely benign
Select item 597278	NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)	NOTCH2 (R1726H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134979	NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)	NOTCH2 (A1721T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2082140	NM_024408.4(NOTCH2):c.5148T>C (p.Thr1716=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 594392	NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)	NOTCH2 (I1692V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134978	NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe)	NOTCH2 (I1689F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2630641	NM_024408.4(NOTCH2):c.5050G>A (p.Val1684Ile)	NOTCH2 (V1684I)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2060165	NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)	NOTCH2 (R1675H)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +1 more	GUncertain significance
Select item 1596662	NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GLikely benign
Select item 2170063	NM_024408.4(NOTCH2):c.4996G>A (p.Val1666Ile)	NOTCH2 (V1666I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 597587	NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 593276	NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)	NOTCH2 (T1658I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3061726	NM_024408.4(NOTCH2):c.4967A>G (p.Gln1656Arg)	NOTCH2 (Q1656R)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2757235	NM_024408.4(NOTCH2):c.4959C>T (p.His1653=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +1 more	GLikely benign
Select item 500754	NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1430909	NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr)	NOTCH2 (K1641T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 283843	NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)	NOTCH2 (V1633I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3020444	NM_024408.4(NOTCH2):c.4889G>A (p.Arg1630His)	NOTCH2 (R1630H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 195987	NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 598586	NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His)	NOTCH2 (R1578H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 2628498	NM_024408.4(NOTCH2):c.4700G>A (p.Arg1567Gln)	NOTCH2 (R1567Q)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2631206	NM_024408.4(NOTCH2):c.4657A>T (p.Met1553Leu)	NOTCH2 (M1553L)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3029739	NM_024408.4(NOTCH2):c.4596G>A (p.Leu1532=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 3029066	NM_024408.4(NOTCH2):c.4541A>G (p.Lys1514Arg)	NOTCH2 (K1514R)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2718075	NM_024408.4(NOTCH2):c.4512-3T>G	NOTCH2	Single nucleotide variant (intron variant)	NOTCH2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 796083	NM_024408.4(NOTCH2):c.4458G>A (p.Thr1486=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 2144608	NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)	NOTCH2 (G1452E)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 288470	NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)	NOTCH2 (V1438I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288219	NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met)	NOTCH2 (T1415M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 134975	NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)	NOTCH2 (L1413H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1924464	NM_024408.4(NOTCH2):c.4197C>G (p.Ser1399=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 445514	NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His)	NOTCH2 (R1393H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593827	NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)	NOTCH2 (H1390R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +4 more	GUncertain significance
Select item 288465	NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2628445	NM_024408.4(NOTCH2):c.4099T>G (p.Phe1367Val)	NOTCH2 (F1367V)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 598511	NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 595890	NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134973	NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His)	NOTCH2 (R1332H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 3058584	NM_024408.4(NOTCH2):c.3900C>T (p.His1300=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 499364	NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 593600	NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3053998	NM_024408.4(NOTCH2):c.3655+62T>G	NOTCH2	Single nucleotide variant (3 prime UTR variant +1 more)	NOTCH2-related disorder	GLikely benign
Select item 1287858	NM_024408.4(NOTCH2):c.3655+54A>G	NOTCH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3051694	NM_024408.4(NOTCH2):c.3655+35G>T	NOTCH2	Single nucleotide variant (synonymous variant +1 more)	NOTCH2-related disorder	GLikely benign
Select item 3037566	NM_024408.4(NOTCH2):c.3655+35G>A	NOTCH2	Single nucleotide variant (synonymous variant +1 more)	NOTCH2-related disorder	GLikely benign
Select item 3046934	NM_024408.4(NOTCH2):c.3654G>A (p.Arg1218=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign

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