ClinVar for Gene (Select 4853) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234952	NM_024408.4(NOTCH2):c.19G>T (p.Ala7Ser)	NOTCH2 (A7S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 3234143	NM_024408.4(NOTCH2):c.273A>G (p.Arg91=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201369	NM_024408.4(NOTCH2):c.6944T>A (p.Ile2315Asn)	NOTCH2 (I2315N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201368	NM_024408.4(NOTCH2):c.6055C>T (p.Arg2019Trp)	NOTCH2 (R2019W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201367	NM_024408.4(NOTCH2):c.4702G>T (p.Ala1568Ser)	NOTCH2 (A1568S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201366	NM_024408.4(NOTCH2):c.4616C>T (p.Pro1539Leu)	NOTCH2 (P1539L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201365	NM_024408.4(NOTCH2):c.4375A>G (p.Met1459Val)	NOTCH2 (M1459V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201364	NM_024408.4(NOTCH2):c.3695G>T (p.Gly1232Val)	NOTCH2 (G1232V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201363	NM_024408.4(NOTCH2):c.3469C>G (p.Pro1157Ala)	NOTCH2 (P1157A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201362	NM_024408.4(NOTCH2):c.3250G>A (p.Glu1084Lys)	NOTCH2 (E1084K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201361	NM_024408.4(NOTCH2):c.3137C>T (p.Thr1046Ile)	NOTCH2 (T1046I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201360	NM_024408.4(NOTCH2):c.298G>C (p.Asp100His)	NOTCH2 (D100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201359	NM_024408.4(NOTCH2):c.2659C>T (p.Leu887Phe)	NOTCH2 (L887F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201358	NM_024408.4(NOTCH2):c.16C>T (p.Pro6Ser)	NOTCH2 (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067701	NM_024408.4(NOTCH2):c.6918T>G (p.Thr2306=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065552	NM_024408.4(NOTCH2):c.2855_2858del (p.Glu952fs)	NOTCH2 (E952fs)	Deletion (frameshift variant)	Hajdu-Cheney syndrome	GLikely pathogenic
Select item 3063421	GRCh37/hg19 1p12(chr1:119425396-120523902)x3	ADAM30, HAO2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3062308	NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)	NOTCH2 (R2047fs)	Deletion (frameshift variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely pathogenic
Select item 3061954	NM_024408.4(NOTCH2):c.337C>T (p.Arg113Ter)	NOTCH2 (R113*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GLikely pathogenic
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 3061344	NM_024408.4(NOTCH2):c.3226G>C (p.Gly1076Arg)	NOTCH2 (G1076R)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3059703	NM_024408.4(NOTCH2):c.918C>T (p.Pro306=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
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 3057537	NM_024408.4(NOTCH2):c.6273C>T (p.Phe2091=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 3054054	NM_024408.4(NOTCH2):c.1308G>A (p.Thr436=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
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 3053683	NM_024408.4(NOTCH2):c.1986C>T (p.Gly662=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely 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 3051081	NM_024408.4(NOTCH2):c.3195T>C (p.Asn1065=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 3049837	NM_024408.4(NOTCH2):c.1067G>A (p.Arg356His)	NOTCH2 (R356H)	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 3048453	NM_024408.4(NOTCH2):c.6794A>G (p.Asn2265Ser)	NOTCH2 (N2265S)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3046934	NM_024408.4(NOTCH2):c.3654G>A (p.Arg1218=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
Select item 3045643	NM_024408.4(NOTCH2):c.1681+6A>G	NOTCH2	Single nucleotide variant (intron variant)	NOTCH2-related disorder	GLikely benign
Select item 3045057	NM_024408.4(NOTCH2):c.1350A>G (p.Gly450=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
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 3041902	NM_024408.4(NOTCH2):c.2928G>A (p.Gln976=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder	GLikely benign
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 3038247	NM_024408.4(NOTCH2):c.5619A>C (p.Thr1873=)	NOTCH2	Single nucleotide variant (synonymous variant)	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 3033260	NM_024408.4(NOTCH2):c.5615A>G (p.Gln1872Arg)	NOTCH2 (Q1872R)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
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 3032244	NM_024408.4(NOTCH2):c.5255C>T (p.Thr1752Ile)	NOTCH2 (T1752I)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3031174	NM_024408.4(NOTCH2):c.1325G>A (p.Cys442Tyr)	NOTCH2 (C442Y)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
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 3030094	NM_024408.4(NOTCH2):c.7127T>C (p.Phe2376Ser)	NOTCH2 (F2376S)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3029848	NM_024408.4(NOTCH2):c.874+4T>C	NOTCH2	Single nucleotide variant (intron variant)	NOTCH2-related disorder	GLikely benign
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 3029325	NM_024408.4(NOTCH2):c.6756T>C (p.Asp2252=)	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 3028996	NM_024408.4(NOTCH2):c.7412C>T (p.Ala2471Val)	NOTCH2 (A2471V)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 3022701	NM_024408.4(NOTCH2):c.1264+3G>A	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GUncertain significance
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 3020172	NM_024408.4(NOTCH2):c.2178C>T (p.Ser726=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3018371	NM_024408.4(NOTCH2):c.3089G>C (p.Ser1030Thr)	NOTCH2 (S1030T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3017717	NM_024408.4(NOTCH2):c.6284A>G (p.Lys2095Arg)	NOTCH2 (K2095R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3015003	NM_024408.4(NOTCH2):c.4851G>T (p.Glu1617Asp)	NOTCH2 (E1617D)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3014744	NM_024408.4(NOTCH2):c.3433T>C (p.Tyr1145His)	NOTCH2 (Y1145H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3014665	NM_024408.4(NOTCH2):c.859C>T (p.Pro287Ser)	NOTCH2 (P287S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3014600	NM_024408.4(NOTCH2):c.2480-20C>T	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3013508	NM_024408.4(NOTCH2):c.4515T>C (p.Tyr1505=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3012691	NM_024408.4(NOTCH2):c.3584C>T (p.Pro1195Leu)	NOTCH2 (P1195L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3011382	NM_024408.4(NOTCH2):c.4412C>T (p.Pro1471Leu)	NOTCH2 (P1471L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3011191	NM_024408.4(NOTCH2):c.2892C>T (p.Cys964=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3010709	NM_024408.4(NOTCH2):c.5987T>A (p.Leu1996Ter)	NOTCH2 (L1996*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 3010563	NM_024408.4(NOTCH2):c.5003-7C>A	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3010149	NM_024408.4(NOTCH2):c.5480-5T>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3008135	NM_024408.4(NOTCH2):c.2380G>A (p.Val794Met)	NOTCH2 (V794M)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3008112	NM_024408.4(NOTCH2):c.1994G>A (p.Arg665His)	NOTCH2 (R665H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3007995	NM_024408.4(NOTCH2):c.4249C>A (p.Pro1417Thr)	NOTCH2 (P1417T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3007567	NM_024408.4(NOTCH2):c.7390C>G (p.His2464Asp)	NOTCH2 (H2464D)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3007180	NM_024408.4(NOTCH2):c.3650C>T (p.Thr1217Ile)	NOTCH2 (T1217I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3006210	NM_024408.4(NOTCH2):c.5858G>T (p.Arg1953Leu)	NOTCH2 (R1953L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3006023	NM_024408.4(NOTCH2):c.1719C>T (p.Asn573=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3004609	NM_024408.4(NOTCH2):c.5824A>G (p.Asn1942Asp)	NOTCH2 (N1942D)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3004411	NM_024408.4(NOTCH2):c.3183+14T>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 3002698	NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 3001540	NM_024408.4(NOTCH2):c.3692G>A (p.Arg1231Gln)	NOTCH2 (R1231Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3001215	NM_024408.4(NOTCH2):c.1967A>G (p.His656Arg)	NOTCH2 (H656R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3001070	NM_024408.4(NOTCH2):c.7057T>C (p.Phe2353Leu)	NOTCH2 (F2353L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2997194	NM_024408.4(NOTCH2):c.4194C>T (p.Tyr1398=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2994868	NM_024408.4(NOTCH2):c.5310+7T>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2993761	NM_024408.4(NOTCH2):c.4624C>G (p.Leu1542Val)	NOTCH2 (L1542V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2993712	NM_024408.4(NOTCH2):c.2686A>C (p.Met896Leu)	NOTCH2 (M896L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2993161	NM_024408.4(NOTCH2):c.6342T>C (p.Thr2114=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2992875	NM_024408.4(NOTCH2):c.6710G>T (p.Ser2237Ile)	NOTCH2 (S2237I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2985728	NM_024408.4(NOTCH2):c.1373A>G (p.Asn458Ser)	NOTCH2 (N458S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2981902	NM_024408.4(NOTCH2):c.5911A>T (p.Asn1971Tyr)	NOTCH2 (N1971Y)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2980300	NM_024408.4(NOTCH2):c.2779A>G (p.Met927Val)	NOTCH2 (M927V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2980272	NM_024408.4(NOTCH2):c.3331A>G (p.Arg1111Gly)	NOTCH2 (R1111G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2979450	NM_024408.4(NOTCH2):c.1265-20T>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2976363	NM_024408.4(NOTCH2):c.4767G>T (p.Val1589=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2975404	NM_024408.4(NOTCH2):c.1426G>A (p.Gly476Arg)	NOTCH2 (G476R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2972224	NM_024408.4(NOTCH2):c.1314C>G (p.Gly438=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2967058	NM_024408.4(NOTCH2):c.1562C>G (p.Pro521Arg)	NOTCH2 (P521R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2966882	NM_024408.4(NOTCH2):c.4512-21_4512-19del	NOTCH2	Deletion (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2966167	NM_024408.4(NOTCH2):c.5306T>C (p.Val1769Ala)	NOTCH2 (V1769A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2962554	NM_024408.4(NOTCH2):c.2113C>T (p.Arg705Cys)	NOTCH2 (R705C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2961674	NM_024408.4(NOTCH2):c.1454-11G>T	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2960773	NM_024408.4(NOTCH2):c.3656-6C>T	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign

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