117581[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC106783501, LOC107980445 +1702 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935371, LOC129935372 +1686 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935269, LOC129935270 +1664 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1147 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935910, LOC129935911 +985 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC126806550, LOC126806551 +629 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	ACKR3, AGAP1 +575 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935960, LOC129935961 +454 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +454 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC93463, LRRFIP1 +360 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +358 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	ACKR3, AGAP1 +179 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	ACKR3, AGAP1 +324 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	ACKR3, AGAP1 +333 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	ACKR3, AGAP1 +333 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	LOC129935992, LOC129935993 +324 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	GBX2, GBX2-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +313 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	LOC106783501, LOC110120629 +310 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +308 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +302 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	LOC129936015, LOC129936016 +287 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +297 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +143 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	LOC129935912, LOC129935913 +287 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	ACKR3, AGXT +286 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +275 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	BOK, LOC129935941 +272 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	LOC129935936, LOC129935937 +273 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +269 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	ATG4B, AGXT +250 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	OR6B3, OTOS +249 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +101 more	Copy number gain	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	LOC285191, MAB21L4 +234 more	Copy number loss	See cases	GPathogenic
Select item 148743	GRCh38/hg38 2q37.3(chr2:238640819-238992486)x1	LINC01937, LINC01940 +10 more	Copy number loss	See cases	GUncertain significance
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +170 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +184 more	Copy number loss	See cases	GPathogenic
Select item 3357087	NM_001271893.4(TWIST2):c.13T>A (p.Ser5Thr)	TWIST2 (S5T)	Single nucleotide variant (missense variant)	TWIST2-related disorder	GUncertain significance
Select item 3464596	NM_001271893.4(TWIST2):c.14C>A (p.Ser5Tyr)	TWIST2 (S5Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233510	NM_001271893.4(TWIST2):c.29C>T (p.Ser10Phe)	TWIST2 (S10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2000451	NM_001271893.4(TWIST2):c.33C>G (p.Pro11=)	TWIST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154868	NM_001271893.4(TWIST2):c.63G>A (p.Glu21=)	TWIST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524901	NM_001271893.4(TWIST2):c.68A>C (p.Glu23Ala)	TWIST2 (E23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916457	NM_001271893.4(TWIST2):c.71G>A (p.Arg24Lys)	TWIST2 (R24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050100	NM_001271893.4(TWIST2):c.83G>A (p.Arg28His)	TWIST2 (R28H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3330335	NM_001271893.4(TWIST2):c.91C>G (p.Arg31Gly)	TWIST2 (R31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3464598	NM_001271893.4(TWIST2):c.121G>A (p.Glu41Lys)	TWIST2 (E41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326953	NM_001271893.4(TWIST2):c.160G>A (p.Gly54Ser)	TWIST2 (G54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 39840	NM_001271893.4(TWIST2):c.168del (p.Ser57fs)	TWIST2 (S57fs)	Deletion (frameshift variant)	Focal facial dermal dysplasia type III	GPathogenic
Select item 797374	NM_001271893.4(TWIST2):c.192G>A (p.Leu64=)	TWIST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30679	NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter)	TWIST2 (Q65*)	Single nucleotide variant (nonsense)	Focal facial dermal dysplasia type III	GPathogenic
Select item 1706315	NM_001271893.4(TWIST2):c.203G>T (p.Arg68Leu)	TWIST2 (R68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208079	NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup)	TWIST2	Duplication (inframe_insertion)	Barber-Say syndrome	GPathogenic
Select item 208078	NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)	TWIST2 (E75Q)	Single nucleotide variant (missense variant)	Barber-Say syndrome	GPathogenic
Select item 208077	NM_001271893.4(TWIST2):c.223G>A (p.Glu75Lys)	TWIST2 (E75K)	Single nucleotide variant (missense variant)	Ablepharon macrostomia syndrome +1 more	GPathogenic
Select item 208076	NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala)	TWIST2 (E75A)	Single nucleotide variant (missense variant)	Barber-Say syndrome	GPathogenic
Select item 725730	NM_001271893.4(TWIST2):c.249C>T (p.Asn83=)	TWIST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746632	NM_001271893.4(TWIST2):c.330C>A (p.Ala110=)	TWIST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30678	NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)	TWIST2 (Q119*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3185084	NM_001271893.4(TWIST2):c.356A>G (p.Gln119Arg)	TWIST2 (Q119R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 751561	NM_001271893.4(TWIST2):c.360C>T (p.Val120=)	TWIST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368919	NM_001271893.4(TWIST2):c.364C>T (p.Gln122Ter)	TWIST2 (Q122*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2606274	NM_001271893.4(TWIST2):c.380A>G (p.Asp127Gly)	TWIST2 (D127G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1996752	NM_001271893.4(TWIST2):c.383A>G (p.Asn128Ser)	TWIST2 (N128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3671910	NM_001271893.4(TWIST2):c.388A>T (p.Met130Leu)	TWIST2 (M130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3464595	NM_001271893.4(TWIST2):c.404A>C (p.Tyr135Ser)	TWIST2 (Y135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307972	NM_001271893.4(TWIST2):c.414C>G (p.His138Gln)	TWIST2 (H138Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3464597	NM_001271893.4(TWIST2):c.448A>G (p.Met150Val)	TWIST2 (M150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229260	NM_001271893.4(TWIST2):c.449T>C (p.Met150Thr)	TWIST2 (M150T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052935	NM_001271893.4(TWIST2):c.*7G>A	TWIST2	Single nucleotide variant (3 prime UTR variant)	TWIST2-related disorder	GLikely benign
Select item 3391997	GRCh37/hg19 2q37.3(chr2:239623792-240011079)x3	HDAC4, TWIST2	Copy number gain	not provided	GUncertain significance
Select item 3391995	GRCh37/hg19 2q37.1-37.3(chr2:235384191-241611345)x3	ACKR3, AGAP1 +38 more	Copy number gain	not provided	GUncertain significance
Select item 3362876	Single allele	ACKR3, AGAP1 +60 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ANO7, CAPN10 +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	ANKMY1, ANO7 +51 more	Copy number loss	not provided	GPathogenic
Select item 2672873	GRCh37/hg19 2q37.3(chr2:239756857-240274394)x3	HDAC4, TWIST2	Copy number gain	not provided	GUncertain significance
Select item 2671587	Single allele	ACKR3, AGAP1 +123 more	Duplication	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	AQP12B, ATG4B +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	AQP12A, AQP12B +58 more	Copy number loss	not provided	GPathogenic
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	BOK, SEPTIN2 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	ACKR3, AGAP1 +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	RNPEPL1, SAG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ALPG, ALPI +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	HDLBP, HES6 +53 more	Duplication	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ING5, IQCA1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340707	GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1	AQP12B, ATG4B +35 more	Copy number loss	not provided	GPathogenic
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	COPS9, ATG4B +53 more	Copy number loss	not provided	GPathogenic
Select item 997810	Single allele	ERFE, ESPNL +57 more	Deletion	Intellectual disability	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic

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