ClinVar for MedGen (Select 182961) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247716	NC_000001.10:g.(?_120254646)_(120512387_?)dup	ADAM30, HMGCS2 +3 more	Duplication	Hajdu-Cheney syndrome	GUncertain significance
Select item 3247715	NC_000001.10:g.(?_120457929)_(120529725_?)dup	NOTCH2	Duplication	Hajdu-Cheney syndrome	GUncertain significance
Select item 3065552	NM_024408.4(NOTCH2):c.2855_2858del (p.Glu952fs)	NOTCH2 (E952fs)	Deletion (frameshift variant)	Hajdu-Cheney syndrome	GLikely pathogenic
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 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	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)	not provided +1 more	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)	not provided +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
Select item 2959332	NM_024408.4(NOTCH2):c.2496A>G (p.Thr832=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2956728	NM_024408.4(NOTCH2):c.6909C>T (p.Pro2303=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2956277	NM_024408.4(NOTCH2):c.6172A>G (p.Ile2058Val)	NOTCH2 (I2058V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2956048	NM_024408.4(NOTCH2):c.1278T>A (p.Pro426=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2955028	NM_024408.4(NOTCH2):c.2982-20T>A	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2954902	NM_024408.4(NOTCH2):c.1785C>T (p.Cys595=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2954598	NM_024408.4(NOTCH2):c.5968G>A (p.Val1990Met)	NOTCH2 (V1990M)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2919451	NM_024408.4(NOTCH2):c.1108+12_1108+14del	NOTCH2	Deletion (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2919395	NM_024408.4(NOTCH2):c.5017C>G (p.Pro1673Ala)	NOTCH2 (P1673A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2918961	NM_024408.4(NOTCH2):c.875-18G>A	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2918369	NM_024408.4(NOTCH2):c.5877G>T (p.Met1959Ile)	NOTCH2 (M1959I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2917943	NM_024408.4(NOTCH2):c.875-15A>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2917421	NM_024408.4(NOTCH2):c.7224C>T (p.Leu2408=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2917361	NM_024408.4(NOTCH2):c.5174A>G (p.Lys1725Arg)	NOTCH2 (K1725R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2917173	NM_024408.4(NOTCH2):c.2126C>T (p.Pro709Leu)	NOTCH2 (P709L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2916427	NM_024408.4(NOTCH2):c.875-8C>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2915305	NM_024408.4(NOTCH2):c.3481G>A (p.Gly1161Arg)	NOTCH2 (G1161R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2915134	NM_024408.4(NOTCH2):c.5814T>C (p.Asp1938=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2914436	NM_024408.4(NOTCH2):c.5357G>A (p.Arg1786Gln)	NOTCH2 (R1786Q)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2913628	NM_024408.4(NOTCH2):c.1993C>T (p.Arg665Cys)	NOTCH2 (R665C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2913424	NM_024408.4(NOTCH2):c.1681+13_1681+14delinsCA	NOTCH2	Indel (intron variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2913423	NM_024408.4(NOTCH2):c.1681+16_1681+29del	NOTCH2	Deletion (intron variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2913151	NM_024408.4(NOTCH2):c.5412G>A (p.Ser1804=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2911883	NM_024408.4(NOTCH2):c.4758A>G (p.Glu1586=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2911780	NM_024408.4(NOTCH2):c.4171C>A (p.Pro1391Thr)	NOTCH2 (P1391T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2911023	NM_024408.4(NOTCH2):c.7077C>T (p.Pro2359=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2910796	NM_024408.4(NOTCH2):c.6960G>T (p.Gly2320=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2910265	NM_024408.4(NOTCH2):c.4531G>C (p.Asp1511His)	NOTCH2 (D1511H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2909459	NM_024408.4(NOTCH2):c.2594G>T (p.Trp865Leu)	NOTCH2 (W865L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2908548	NM_024408.4(NOTCH2):c.3244A>G (p.Lys1082Glu)	NOTCH2 (K1082E)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2908304	NM_024408.4(NOTCH2):c.1591A>G (p.Ile531Val)	NOTCH2 (I531V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2904586	NM_024408.4(NOTCH2):c.6200T>C (p.Val2067Ala)	NOTCH2 (V2067A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2904280	NM_024408.4(NOTCH2):c.6394AAG[1] (p.Lys2133del)	NOTCH2 (K2133del)	Microsatellite (inframe_deletion)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2903924	NM_024408.4(NOTCH2):c.5509C>T (p.Leu1837Phe)	NOTCH2 (L1837F)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2901726	NM_024408.4(NOTCH2):c.6485C>T (p.Ser2162Phe)	NOTCH2 (S2162F)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2901054	NM_024408.4(NOTCH2):c.4247C>G (p.Ala1416Gly)	NOTCH2 (A1416G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2900579	NM_024408.4(NOTCH2):c.1454-9T>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2899732	NM_024408.4(NOTCH2):c.5003-11T>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2898215	NM_024408.4(NOTCH2):c.4497C>T (p.Asn1499=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2897878	NM_024408.4(NOTCH2):c.5032C>T (p.Leu1678Phe)	NOTCH2 (L1678F)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2897825	NM_024408.4(NOTCH2):c.1567+19del	NOTCH2	Deletion (intron variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2897741	NM_024408.4(NOTCH2):c.4123G>A (p.Glu1375Lys)	NOTCH2 (E1375K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2897386	NM_024408.4(NOTCH2):c.7364C>T (p.Pro2455Leu)	NOTCH2 (P2455L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2897292	NM_024408.4(NOTCH2):c.4058A>G (p.Lys1353Arg)	NOTCH2 (K1353R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2897042	NM_024408.4(NOTCH2):c.4814T>C (p.Met1605Thr)	NOTCH2 (M1605T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2896496	NM_024408.4(NOTCH2):c.2108G>T (p.Gly703Val)	NOTCH2 (G703V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance

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