ClinVar for MedGen (Select 1645760) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358922	NM_133433.4(NIPBL):c.1036G>T (p.Asp346Tyr)	NIPBL (D346Y)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3340514	NM_133433.4(NIPBL):c.5684G>C (p.Arg1895Thr)	NIPBL (R1895T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3255021	NM_133433.4(NIPBL):c.874A>G (p.Arg292Gly)	NIPBL (R292G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3255020	NM_133433.4(NIPBL):c.5225_5225+6del	NIPBL	Deletion (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3254830	NM_133433.4(NIPBL):c.1259T>C (p.Leu420Ser)	NIPBL (L420S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3254583	NM_133433.4(NIPBL):c.8339del (p.Ser2780fs)	NIPBL (S2780fs)	Deletion (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3250445	NM_133433.4(NIPBL):c.3296C>A (p.Ala1099Asp)	NIPBL (A1099D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246419	NC_000005.9:g.(?_36992705)_(37000570_?)del	NIPBL	Deletion	Cornelia de Lange syndrome 1	GPathogenic
Select item 3246417	NC_000005.9:g.(?_36961566)_(37371079_?)dup	CPLANE1, NIPBL +1 more	Duplication	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246416	NC_000005.9:g.(?_36683946)_(37187964_?)dup	CPLANE1, NIPBL +1 more	Duplication	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246415	NC_000005.9:g.(?_37063872)_(37108593_?)del	CPLANE1, NIPBL	Deletion	Cornelia de Lange syndrome 1	GPathogenic
Select item 3235949	NM_133433.4(NIPBL):c.6763+1_6763+2del	NIPBL	Deletion (splice donor variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3235919	NM_133433.4(NIPBL):c.6440T>G (p.Val2147Gly)	NIPBL (V2147G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3235231	NM_133433.4(NIPBL):c.3923C>T (p.Ala1308Val)	NIPBL (A1308V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3233967	NM_133433.4(NIPBL):c.6706A>G (p.Asn2236Asp)	NIPBL (N2236D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3220904	NM_133433.4(NIPBL):c.4586_4589del (p.Asn1529fs)	NIPBL (N1529fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3075718	NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)	NIPBL (V1424fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3068817	NM_133433.4(NIPBL):c.3547dup (p.Ala1183fs)	NIPBL (A1183fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3066295	NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del)	NIPBL (G2351del)	Deletion (inframe deletion)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3065997	NM_133433.4(NIPBL):c.7375G>C (p.Val2459Leu)	NIPBL (V2459L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3065381	NM_133433.4(NIPBL):c.1708_1709del (p.Ile570fs)	NIPBL (I570fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 3061896	NM_133433.4(NIPBL):c.6694C>G (p.Gln2232Glu)	NIPBL (Q2232E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3029798	NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)	NIPBL (K927fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3024313	NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg)	NIPBL (Q1776R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 3020510	NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala)	NIPBL (T35A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3019309	NM_133433.4(NIPBL):c.843T>C (p.Pro281=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3018473	NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3017964	NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn)	NIPBL (S1150N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3016916	NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg)	NIPBL (K1034R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3015863	NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)	NIPBL (L1669I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3014126	NM_133433.4(NIPBL):c.4644-16A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3010931	NM_133433.4(NIPBL):c.3121+19A>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3007412	NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3007073	NM_133433.4(NIPBL):c.3664+11C>T	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1 +1 more	GLikely benign
Select item 3005858	NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GBenign
Select item 3004351	NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala)	NIPBL (D1095A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3001493	NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 3000475	NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2999100	NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser)	NIPBL (C1391S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2996532	NM_133433.4(NIPBL):c.1302G>T (p.Val434=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2991782	NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2989924	NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del)	NIPBL (E2636del)	Microsatellite (inframe_deletion)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2989325	NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2987366	NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp)	NIPBL (N1744D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2985912	NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2985895	NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2985408	NM_133433.4(NIPBL):c.297C>T (p.Val99=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2984138	NM_133433.4(NIPBL):c.4560+19G>T	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2983731	NM_133433.4(NIPBL):c.-315del	NIPBL	Deletion (5 prime UTR variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2981652	NM_133433.4(NIPBL):c.889C>G (p.Leu297Val)	NIPBL (L297V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2980240	NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2980197	NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile)	NIPBL (V2379I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2975973	NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser)	NIPBL (T196S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2973000	NM_133433.4(NIPBL):c.3122-17T>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2972565	NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu)	NIPBL (Q298L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2966028	NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr)	NIPBL (H1705Y)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2963128	NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val)	NIPBL (M1535V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2960638	NM_133433.4(NIPBL):c.868+4C>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2960521	NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2960018	NM_133433.4(NIPBL):c.6763+13A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2956167	NM_133433.4(NIPBL):c.45G>C (p.Gly15=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2920325	NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro)	NIPBL (L866P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2918313	NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2917307	NM_133433.4(NIPBL):c.193C>G (p.Leu65Val)	NIPBL (L65V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2917016	NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2916231	NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2916216	NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln)	NIPBL (R710Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2915652	NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2914780	NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2914304	NM_133433.4(NIPBL):c.3574+12_3574+16del	NIPBL	Deletion (intron variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2914095	NM_133433.4(NIPBL):c.6764-10G>A	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2913745	NM_133433.4(NIPBL):c.5010+18T>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2913117	NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)	NIPBL	Single nucleotide variant (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2911337	NM_133433.4(NIPBL):c.6764-6T>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2911222	NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2910932	NM_133433.4(NIPBL):c.5226-11T>C	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2910554	NM_133433.4(NIPBL):c.879A>G (p.Pro293=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2909818	NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2909786	NM_133433.4(NIPBL):c.4321-6A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2908551	NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala)	NIPBL (T1918A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2904478	NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr)	NIPBL (P1576T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2902559	NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys)	NIPBL (Y1676C)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2902061	NM_133433.4(NIPBL):c.4921-4A>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2901649	NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser)	NIPBL (N2415S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2899724	NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala)	NIPBL (T1409A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2898954	NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu)	NIPBL (P2500L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2898807	NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del)	NIPBL (N820del)	Microsatellite (inframe_deletion)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2897379	NM_133433.4(NIPBL):c.5011-19C>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2896789	NM_133433.4(NIPBL):c.611-8A>G	NIPBL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2895986	NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser)	NIPBL (A2777S)	Single nucleotide variant (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2895018	NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2893881	NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly)	NIPBL (D2764G)	Single nucleotide variant (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2893628	NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2893204	NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn)	NIPBL (D2517N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2892701	NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu)	NIPBL (P397L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2891112	NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2888223	NM_133433.4(NIPBL):c.460C>A (p.Arg154=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2887817	NM_133433.4(NIPBL):c.6249+17C>T	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2887536	NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)	NIPBL	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 2887291	NM_133433.4(NIPBL):c.1495+11C>G	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely benign

<< First< Prev

Page of 10