CBX2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1413266	NM_005189.3(CBX2):c.10C>G (p.Leu4Val)	CBX2, LOC130061877 (L4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421844	NM_005189.3(CBX2):c.48C>T (p.Cys16=)	CBX2, LOC130061877	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069107	NM_005189.3(CBX2):c.69C>A (p.Arg23=)	CBX2, LOC130061877	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1600780	NM_005189.3(CBX2):c.72+25del	CBX2, LOC130061877	Deletion (intron variant)	not provided	GBenign
Select item 2974727	NM_005189.3(CBX2):c.73-19C>G	CBX2, LOC130061878	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358800	NM_005189.3(CBX2):c.73-7C>A	CBX2, LOC130061878	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2300499	NM_005189.3(CBX2):c.82G>C (p.Glu28Gln)	CBX2, LOC130061878 (E28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065334	NM_005189.3(CBX2):c.117-18del	CBX2	Deletion (intron variant)	not provided +1 more	GUncertain significance
Select item 1654360	NM_005189.3(CBX2):c.117-14C>T	CBX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 996035	NM_005189.3(CBX2):c.117-3C>T	CBX2	Single nucleotide variant (intron variant)	Disorder of sexual differentiation	GUncertain significance
Select item 1614331	NM_005189.3(CBX2):c.147C>T (p.Ile49=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601133	NM_005189.3(CBX2):c.182+20_182+21dup	CBX2	Duplication (intron variant)	not provided	GBenign
Select item 2557085	NM_005189.3(CBX2):c.208C>T (p.Arg70Trp)	CBX2 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496500	NM_005189.3(CBX2):c.217G>C (p.Gly73Arg)	CBX2 (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138050	NM_005189.3(CBX2):c.235C>T (p.Arg79Trp)	CBX2 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263671	NM_005189.3(CBX2):c.256A>G (p.Met86Val)	CBX2 (M86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375260	NM_005189.3(CBX2):c.264del (p.Cys89fs)	CBX2 (C89fs)	Deletion (frameshift variant)	46,XY sex reversal 5	GUncertain significance
Select item 3043499	NM_005189.3(CBX2):c.267C>T (p.Cys89=)	CBX2	Single nucleotide variant (synonymous variant)	CBX2-related disorder	GLikely benign
Select item 2378704	NM_005189.3(CBX2):c.271C>T (p.Arg91Trp)	CBX2 (R91W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648387	NM_005189.3(CBX2):c.288+43C>T	CBX2 (P111S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2634053	NM_005189.3(CBX2):c.288+52G>T	CBX2 (V114L)	Single nucleotide variant (missense variant +1 more)	CBX2-related disorder	GUncertain significance
Select item 2648388	NM_005189.3(CBX2):c.288+147T>G	CBX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648389	NM_005189.3(CBX2):c.288+172del	CBX2 (C154fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2496438	NM_005189.3(CBX2):c.292C>G (p.Pro98Ala)	CBX2 (P98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6826	NM_005189.3(CBX2):c.293C>T (p.Pro98Leu)	CBX2 (P98L)	Single nucleotide variant (missense variant)	46,XY sex reversal 5	GPathogenic
Select item 1432898	NM_005189.3(CBX2):c.326C>A (p.Ser109Tyr)	CBX2 (S109Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065910	NM_005189.3(CBX2):c.332C>T (p.Ser111Phe)	CBX2 (S111F)	Single nucleotide variant (missense variant)	46,XY sex reversal 5	GLikely benign
Select item 708978	NM_005189.3(CBX2):c.342G>A (p.Thr114=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3138051	NM_005189.3(CBX2):c.355T>C (p.Ser119Pro)	CBX2 (S119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2907779	NM_005189.3(CBX2):c.397G>A (p.Gly133Ser)	CBX2 (G133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205840	NM_005189.3(CBX2):c.404G>A (p.Arg135Gln)	CBX2 (R135Q)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 1674397	NM_005189.3(CBX2):c.420C>T (p.His140=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769928	NM_005189.3(CBX2):c.429G>A (p.Pro143=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3138052	NM_005189.3(CBX2):c.475C>T (p.Pro159Ser)	CBX2 (P159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138053	NM_005189.3(CBX2):c.476C>T (p.Pro159Leu)	CBX2 (P159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161340	NM_005189.3(CBX2):c.481C>T (p.Arg161Trp)	CBX2 (R161W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2373875	NM_005189.3(CBX2):c.514G>C (p.Glu172Gln)	CBX2 (E172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722553	NM_005189.3(CBX2):c.537C>T (p.Pro179=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708561	NM_005189.3(CBX2):c.565G>A (p.Ala189Thr)	CBX2 (A189T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784364	NM_005189.3(CBX2):c.577C>A (p.Leu193Met)	CBX2 (L193M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3003845	NM_005189.3(CBX2):c.581G>A (p.Gly194Glu)	CBX2 (G194E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065347	NM_005189.3(CBX2):c.603C>G (p.Pro201=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1658287	NM_005189.3(CBX2):c.603C>T (p.Pro201=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1643733	NM_005189.3(CBX2):c.615C>T (p.Ser205=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263667	NM_005189.3(CBX2):c.622G>T (p.Val208Phe)	CBX2 (V208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138054	NM_005189.3(CBX2):c.622G>A (p.Val208Ile)	CBX2 (V208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2150323	NM_005189.3(CBX2):c.631C>T (p.Leu211=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263675	NM_005189.3(CBX2):c.651C>G (p.His217Gln)	CBX2 (H217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2061244	NM_005189.3(CBX2):c.669C>T (p.Gly223=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568844	NM_005189.3(CBX2):c.670G>A (p.Gly224Ser)	CBX2 (G224S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1443715	NM_005189.3(CBX2):c.721A>G (p.Met241Val)	CBX2 (M241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468458	NM_005189.3(CBX2):c.736G>A (p.Gly246Ser)	CBX2 (G246S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532769	NM_005189.3(CBX2):c.739C>T (p.Arg247Trp)	CBX2 (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339130	NM_005189.3(CBX2):c.740G>A (p.Arg247Gln)	CBX2 (R247Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215539	NM_005189.3(CBX2):c.745G>A (p.Gly249Ser)	CBX2 (G249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2961945	NM_005189.3(CBX2):c.751A>T (p.Ser251Cys)	CBX2 (S251C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044928	NM_005189.3(CBX2):c.769G>A (p.Val257Met)	CBX2 (V257M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3138055	NM_005189.3(CBX2):c.772C>T (p.His258Tyr)	CBX2 (H258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2065230	NM_005189.3(CBX2):c.778A>G (p.Met260Val)	CBX2 (M260V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2742100	NM_005189.3(CBX2):c.785G>A (p.Arg262Gln)	CBX2 (R262Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3138056	NM_005189.3(CBX2):c.808G>C (p.Ala270Pro)	CBX2 (A270P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791205	NM_005189.3(CBX2):c.849G>T (p.Lys283Asn)	CBX2 (K283N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3263668	NM_005189.3(CBX2):c.853G>A (p.Gly285Ser)	CBX2 (G285S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482601	NM_005189.3(CBX2):c.881C>T (p.Thr294Met)	CBX2 (T294M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3008055	NM_005189.3(CBX2):c.882G>A (p.Thr294=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299960	NM_005189.3(CBX2):c.889G>A (p.Gly297Arg)	CBX2 (G297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263672	NM_005189.3(CBX2):c.907C>T (p.Pro303Ser)	CBX2 (P303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716491	NM_005189.3(CBX2):c.912A>C (p.Pro304=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219887	NM_005189.3(CBX2):c.917G>A (p.Ser306Asn)	CBX2 (S306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465750	NM_005189.3(CBX2):c.926C>T (p.Pro309Leu)	CBX2 (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788684	NM_005189.3(CBX2):c.940G>A (p.Gly314Ser)	CBX2 (G314S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3263670	NM_005189.3(CBX2):c.964G>A (p.Gly322Arg)	CBX2 (G322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474523	NM_005189.3(CBX2):c.974G>A (p.Gly325Glu)	CBX2 (G325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263669	NM_005189.3(CBX2):c.979C>T (p.Pro327Ser)	CBX2 (P327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2077620	NM_005189.3(CBX2):c.992A>G (p.His331Arg)	CBX2 (H331R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077716	NM_005189.3(CBX2):c.995G>A (p.Gly332Asp)	CBX2 (G332D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2816901	NM_005189.3(CBX2):c.1006G>T (p.Val336Leu)	CBX2 (V336L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447501	NM_005189.3(CBX2):c.1021C>G (p.Pro341Ala)	CBX2 (P341A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3138047	NM_005189.3(CBX2):c.1034C>T (p.Pro345Leu)	CBX2 (P345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556715	NM_005189.3(CBX2):c.1043C>A (p.Thr348Asn)	CBX2 (T348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2054066	NM_005189.3(CBX2):c.1043C>G (p.Thr348Ser)	CBX2 (T348S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2078430	NM_005189.3(CBX2):c.1047G>C (p.Gln349His)	CBX2 (Q349H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 749846	NM_005189.3(CBX2):c.1098C>T (p.Pro366=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330940	NM_005189.3(CBX2):c.1099G>A (p.Gly367Arg)	CBX2 (G367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1945019	NM_005189.3(CBX2):c.1117C>T (p.Arg373Cys)	CBX2 (R373C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333151	NM_005189.3(CBX2):c.1118G>A (p.Arg373His)	CBX2 (R373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263673	NM_005189.3(CBX2):c.1121A>G (p.His374Arg)	CBX2 (H374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495164	NM_005189.3(CBX2):c.1123G>A (p.Ala375Thr)	CBX2 (A375T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3037754	NM_005189.3(CBX2):c.1125C>T (p.Ala375=)	CBX2	Single nucleotide variant (synonymous variant)	CBX2-related disorder	GLikely benign
Select item 3049157	NM_005189.3(CBX2):c.1128C>T (p.Thr376=)	CBX2	Single nucleotide variant (synonymous variant)	CBX2-related disorder	GLikely benign
Select item 1559855	NM_005189.3(CBX2):c.1146G>A (p.Pro382=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914785	NM_005189.3(CBX2):c.1200C>T (p.Ser400=)	CBX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076308	NM_005189.3(CBX2):c.1210A>T (p.Met404Leu)	CBX2 (M404L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2026703	NM_005189.3(CBX2):c.1242_1243delinsCT (p.Ala415Ser)	CBX2 (A415S)	Indel (missense variant)	not provided	GUncertain significance

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