ClinVar for Gene (Select 157570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209016	NM_018492.4(PBK):c.796T>G (p.Phe266Val)	ESCO2, PBK (F266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090431	NM_001017420.3(ESCO2):c.863A>G (p.Asp288Gly)	ESCO2 (D288G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090430	NM_001017420.3(ESCO2):c.856A>G (p.Ile286Val)	ESCO2 (I286V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090429	NM_001017420.3(ESCO2):c.812A>G (p.Lys271Arg)	ESCO2 (K271R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090428	NM_001017420.3(ESCO2):c.299A>G (p.Lys100Arg)	ESCO2 (K100R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090426	NM_001017420.3(ESCO2):c.1178G>A (p.Gly393Asp)	ESCO2 (G393D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3090425	NM_001017420.3(ESCO2):c.1112C>A (p.Thr371Lys)	ESCO2 (T371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3057323	NM_001017420.3(ESCO2):c.54-14_54-11del	ESCO2	Deletion (intron variant)	ESCO2-related condition	GLikely benign
Select item 3045897	NM_001017420.3(ESCO2):c.834C>T (p.Ser278=)	ESCO2	Single nucleotide variant (synonymous variant)	ESCO2-related condition	GLikely benign
Select item 3015993	NM_001017420.3(ESCO2):c.1673+16G>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015828	NM_001017420.3(ESCO2):c.118_119del (p.Asn39_Ser40insTer)	ESCO2	Deletion (nonsense)	not provided	GPathogenic
Select item 3013914	NM_001017420.3(ESCO2):c.862-14A>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009860	NM_001017420.3(ESCO2):c.1410T>G (p.Pro470=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002735	NM_001017420.3(ESCO2):c.1498-19C>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000126	NM_001017420.3(ESCO2):c.956-20_956-18del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 3000124	NM_001017420.3(ESCO2):c.54-16_54-15del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 2995240	NM_001017420.3(ESCO2):c.956-11dup	ESCO2	Duplication (intron variant)	not provided	GBenign
Select item 2989104	NM_001017420.3(ESCO2):c.1674-11T>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986234	NM_001017420.3(ESCO2):c.519G>A (p.Lys173=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979853	NM_001017420.3(ESCO2):c.1014-12T>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979815	NM_001017420.3(ESCO2):c.1209T>C (p.Asp403=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978071	NM_001017420.3(ESCO2):c.1354-18G>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975942	NM_001017420.3(ESCO2):c.955+17A>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973599	NM_001017420.3(ESCO2):c.1263+11A>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963797	NM_001017420.3(ESCO2):c.1092C>T (p.Thr364=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962127	NM_001017420.3(ESCO2):c.1509C>G (p.Val503=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960545	NM_001017420.3(ESCO2):c.1671C>G (p.Leu557=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959959	NM_001017420.3(ESCO2):c.955+19G>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959734	NM_001017420.3(ESCO2):c.1014-19A>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919236	NM_001017420.3(ESCO2):c.969C>A (p.Ser323=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918114	NM_001017420.3(ESCO2):c.1264-16T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915447	NM_001017420.3(ESCO2):c.955+15G>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914694	NM_001017420.3(ESCO2):c.1131+17C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913244	NM_001017420.3(ESCO2):c.1132-14C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909062	NM_001017420.3(ESCO2):c.956-15T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908574	NM_001017420.3(ESCO2):c.1132-9del	ESCO2	Deletion (intron variant)	not provided	GBenign
Select item 2899823	NM_001017420.3(ESCO2):c.1140T>C (p.Gly380=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896078	NM_001017420.3(ESCO2):c.1354-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2891001	NM_001017420.3(ESCO2):c.1131+1G>T	ESCO2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2890353	NM_001017420.3(ESCO2):c.1014-13T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889658	NM_001017420.3(ESCO2):c.1014-20_1014-17del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 2888315	NM_001017420.3(ESCO2):c.144T>C (p.His48=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887306	NM_001017420.3(ESCO2):c.1263+18C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884401	NM_001017420.3(ESCO2):c.1131+17C>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882338	NM_001017420.3(ESCO2):c.955+21del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 2877937	NM_001017420.3(ESCO2):c.1014-9T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877760	NM_001017420.3(ESCO2):c.956-17G>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875800	NM_001017420.3(ESCO2):c.1155G>A (p.Gly385=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875537	NM_001017420.3(ESCO2):c.21del (p.Lys8fs)	ESCO2 (K8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2870088	NM_001017420.3(ESCO2):c.81T>C (p.Phe27=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870029	NM_001017420.3(ESCO2):c.897_898del (p.His299fs)	ESCO2 (H299fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2868417	NM_001017420.3(ESCO2):c.1432del (p.Thr478fs)	ESCO2 (T478fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2867929	NM_001017420.3(ESCO2):c.862-11C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867003	NM_001017420.3(ESCO2):c.800_836dup (p.Ser279fs)	ESCO2 (S279fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2866722	NM_001017420.3(ESCO2):c.1264-10C>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865726	NM_001017420.3(ESCO2):c.292G>T (p.Glu98Ter)	ESCO2 (E98*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865186	NM_001017420.3(ESCO2):c.1152T>C (p.Phe384=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863090	NM_001017420.3(ESCO2):c.955+12C>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861180	NM_001017420.3(ESCO2):c.1653A>G (p.Arg551=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860235	NM_001017420.3(ESCO2):c.1662T>G (p.Val554=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860062	NM_001017420.3(ESCO2):c.687A>C (p.Ser229=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858728	NM_001017420.3(ESCO2):c.1626A>G (p.Arg542=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858442	NM_001017420.3(ESCO2):c.441G>A (p.Lys147=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856786	NM_001017420.3(ESCO2):c.660A>G (p.Arg220=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855497	NM_001017420.3(ESCO2):c.1254C>T (p.Ile418=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853213	NM_001017420.3(ESCO2):c.474A>T (p.Val158=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851900	NM_001017420.3(ESCO2):c.808T>C (p.Leu270=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849535	NM_001017420.3(ESCO2):c.952del (p.Thr318fs)	ESCO2 (T318fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2847034	NM_001017420.3(ESCO2):c.315T>C (p.Ser105=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846824	NM_001017420.3(ESCO2):c.1013+16_1013+18del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 2845382	NM_001017420.3(ESCO2):c.1673+11A>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842921	NM_001017420.3(ESCO2):c.123T>C (p.Asp41=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842504	NM_001017420.3(ESCO2):c.1803T>C (p.Ser601=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841553	NM_001017420.3(ESCO2):c.653_657del (p.Ser217_Ser218insTer)	ESCO2	Deletion (nonsense)	not provided	GPathogenic
Select item 2841449	NM_001017420.3(ESCO2):c.1263+17T>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840753	NM_001017420.3(ESCO2):c.1673+11A>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840096	NM_001017420.3(ESCO2):c.1497+14G>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838486	NM_001017420.3(ESCO2):c.1497+12T>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838113	NM_001017420.3(ESCO2):c.1497+18T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837771	NM_001017420.3(ESCO2):c.453G>A (p.Lys151=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837678	NM_001017420.3(ESCO2):c.1225C>T (p.Gln409Ter)	ESCO2 (Q409*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2837279	NM_001017420.3(ESCO2):c.615C>A (p.Leu205=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835189	NM_001017420.3(ESCO2):c.991_1001del (p.Ala331fs)	ESCO2 (A331fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2834329	NM_001017420.3(ESCO2):c.116del (p.Asn39fs)	ESCO2 (N39fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2833184	NM_001017420.3(ESCO2):c.510dup (p.Ile171fs)	ESCO2 (I171fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2831951	NM_001017420.3(ESCO2):c.951G>A (p.Lys317=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831235	NM_001017420.3(ESCO2):c.15T>A (p.Thr5=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830417	NM_001017420.3(ESCO2):c.837T>C (p.Ser279=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829097	NM_001017420.3(ESCO2):c.387dup (p.Pro130fs)	ESCO2 (P130fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2828475	NM_001017420.3(ESCO2):c.1132-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2822790	NM_001017420.3(ESCO2):c.1132-12C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822421	NM_001017420.3(ESCO2):c.360C>T (p.Pro120=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819223	NM_001017420.3(ESCO2):c.585G>A (p.Leu195=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815369	NM_001017420.3(ESCO2):c.282C>T (p.Leu94=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813120	NM_001017420.3(ESCO2):c.261C>A (p.Tyr87Ter)	ESCO2 (Y87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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