23404[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 1095770	NM_014285.7(EXOSC2):c.6G>A (p.Ala2=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900645	NM_014285.7(EXOSC2):c.10G>C (p.Glu4Gln)	EXOSC2 (E4Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047868	NM_014285.7(EXOSC2):c.13A>G (p.Met5Val)	EXOSC2 (M5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1062814	NM_014285.7(EXOSC2):c.13A>C (p.Met5Leu)	EXOSC2 (M5L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 765042	NM_014285.7(EXOSC2):c.16A>C (p.Arg6=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1379679	NM_014285.7(EXOSC2):c.19C>A (p.Leu7Ile)	EXOSC2 (L7I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931953	NM_014285.7(EXOSC2):c.21T>C (p.Leu7=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1895940	NM_014285.7(EXOSC2):c.21T>A (p.Leu7=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2100433	NM_014285.7(EXOSC2):c.22C>T (p.Pro8Ser)	EXOSC2 (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013423	NM_014285.7(EXOSC2):c.23del (p.Pro8fs)	EXOSC2 (P8fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 778382	NM_014285.7(EXOSC2):c.22C>G (p.Pro8Ala)	EXOSC2 (P8A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1436494	NM_014285.7(EXOSC2):c.23C>T (p.Pro8Leu)	EXOSC2 (P8L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1657198	NM_014285.7(EXOSC2):c.24A>G (p.Pro8=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1467836	NM_014285.7(EXOSC2):c.29C>T (p.Ala10Val)	EXOSC2 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052094	NM_014285.7(EXOSC2):c.31C>T (p.Arg11Cys)	EXOSC2 (R11C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1063737	NM_014285.7(EXOSC2):c.31C>A (p.Arg11Ser)	EXOSC2 (R11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2332100	NM_014285.7(EXOSC2):c.34A>G (p.Lys12Glu)	EXOSC2 (K12E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1124358	NM_014285.7(EXOSC2):c.36G>A (p.Lys12=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1970675	NM_014285.7(EXOSC2):c.37C>T (p.Pro13Ser)	EXOSC2 (P13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2029023	NM_014285.7(EXOSC2):c.42T>G (p.Leu14=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1348896	NM_014285.7(EXOSC2):c.58C>A (p.Arg20Ser)	EXOSC2, LOC130002815 (R20S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903868	NM_014285.7(EXOSC2):c.60C>A (p.Arg20=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1587553	NM_014285.7(EXOSC2):c.63C>T (p.Asp21=)	LOC130002815, EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1519614	NM_014285.7(EXOSC2):c.64A>C (p.Thr22Pro)	EXOSC2, LOC130002815 (T22P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490530	NM_014285.7(EXOSC2):c.64A>G (p.Thr22Ala)	EXOSC2, LOC130002815 (T22A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923773	NM_014285.7(EXOSC2):c.65C>G (p.Thr22Ser)	EXOSC2, LOC130002815 (T22S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926802	NM_014285.7(EXOSC2):c.68A>G (p.Lys23Arg)	EXOSC2, LOC130002815 (K23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1551494	NM_014285.7(EXOSC2):c.75T>C (p.His25=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3276831	NM_014285.7(EXOSC2):c.86C>T (p.Pro29Leu)	EXOSC2, LOC130002815 (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2841281	NM_014285.7(EXOSC2):c.87G>A (p.Pro29=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 446202	NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)	EXOSC2, LOC130002815 (G30V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1379198	NM_014285.7(EXOSC2):c.91G>C (p.Asp31His)	EXOSC2, LOC130002815 (D31H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1501466	NM_014285.7(EXOSC2):c.92A>T (p.Asp31Val)	EXOSC2, LOC130002815 (D31V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504157	NM_014285.7(EXOSC2):c.95C>A (p.Thr32Lys)	EXOSC2, LOC130002815 (T32K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1131664	NM_014285.7(EXOSC2):c.96A>G (p.Thr32=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2311789	NM_014285.7(EXOSC2):c.97A>G (p.Ile33Val)	EXOSC2, LOC130002815 (I33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1522005	NM_014285.7(EXOSC2):c.107A>T (p.Asp36Val)	EXOSC2, LOC130002815 (D36V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2022858	NM_014285.7(EXOSC2):c.114A>G (p.Gly38=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529888	NM_014285.7(EXOSC2):c.117C>T (p.Phe39=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1482502	NM_014285.7(EXOSC2):c.118A>T (p.Met40Leu)	EXOSC2, LOC130002815 (M40L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1493983	NM_014285.7(EXOSC2):c.120_121delinsAA (p.Met40Ile)	EXOSC2, LOC130002815 (M40I)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1921236	NM_014285.7(EXOSC2):c.122+2T>G	EXOSC2, LOC130002815	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 959140	NM_014285.7(EXOSC2):c.122+4C>T	EXOSC2, LOC130002815	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1369905	NM_014285.7(EXOSC2):c.122+5G>A	EXOSC2, LOC130002815	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1529708	NM_014285.7(EXOSC2):c.122+13T>C	EXOSC2, LOC130002815	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913614	NM_014285.7(EXOSC2):c.123-13C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168715	NM_014285.7(EXOSC2):c.123-12G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2100348	NM_014285.7(EXOSC2):c.126C>T (p.Gly42=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1504825	NM_014285.7(EXOSC2):c.134C>T (p.Thr45Met)	EXOSC2 (T45M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165148	NM_014285.7(EXOSC2):c.135G>A (p.Thr45=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 961269	NM_014285.7(EXOSC2):c.139A>G (p.Met47Val)	EXOSC2 (M47V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069588	NM_014285.7(EXOSC2):c.156C>G (p.Leu52=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1996023	NM_014285.7(EXOSC2):c.157A>G (p.Ile53Val)	EXOSC2 (I53V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3276830	NM_014285.7(EXOSC2):c.160G>C (p.Ala54Pro)	EXOSC2 (A54P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2049424	NM_014285.7(EXOSC2):c.160G>A (p.Ala54Thr)	EXOSC2 (A54T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 851425	NM_014285.7(EXOSC2):c.161C>T (p.Ala54Val)	EXOSC2 (A54V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954443	NM_014285.7(EXOSC2):c.162A>T (p.Ala54=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1495493	NM_014285.7(EXOSC2):c.168T>A (p.Val56=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2097867	NM_014285.7(EXOSC2):c.172G>C (p.Gly58Arg)	EXOSC2 (G58R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 945359	NM_014285.7(EXOSC2):c.186_187del (p.Arg62fs)	EXOSC2 (R62fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1024889	NM_014285.7(EXOSC2):c.185G>C (p.Arg62Thr)	EXOSC2 (R62T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2132414	NM_014285.7(EXOSC2):c.194A>C (p.Lys65Thr)	EXOSC2 (K65T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 835783	NM_014285.7(EXOSC2):c.195G>T (p.Lys65Asn)	EXOSC2 (K65N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1009446	NM_014285.7(EXOSC2):c.200T>C (p.Ile67Thr)	EXOSC2 (I67T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409444	NM_014285.7(EXOSC2):c.224+3G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1167117	NM_014285.7(EXOSC2):c.224+12del	EXOSC2	Deletion (intron variant)	not provided	GBenign
Select item 1551947	NM_014285.7(EXOSC2):c.224+10A>G	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998391	NM_014285.7(EXOSC2):c.224+16G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1118307	NM_014285.7(EXOSC2):c.224+17T>C	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900336	NM_014285.7(EXOSC2):c.225-16G>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917572	NM_014285.7(EXOSC2):c.242G>C (p.Gly81Ala)	EXOSC2 (G81A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1152136	NM_014285.7(EXOSC2):c.249C>T (p.Ile83=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1023651	NM_014285.7(EXOSC2):c.250G>A (p.Val84Ile)	EXOSC2 (V84I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084125	NM_014285.7(EXOSC2):c.254T>C (p.Val85Ala)	EXOSC2 (V85A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018627	NM_014285.7(EXOSC2):c.259C>T (p.Arg87Ter)	EXOSC2 (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1153205	NM_014285.7(EXOSC2):c.260G>A (p.Arg87Gln)	EXOSC2 (R87Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1044344	NM_014285.7(EXOSC2):c.260G>T (p.Arg87Leu)	EXOSC2 (R87L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1584136	NM_014285.7(EXOSC2):c.264C>T (p.Ile88=)	EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1038265	NM_014285.7(EXOSC2):c.269A>G (p.Glu90Gly)	EXOSC2 (E90G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362080	NM_014285.7(EXOSC2):c.270G>C (p.Glu90Asp)	EXOSC2 (E90D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959675	NM_014285.7(EXOSC2):c.270+5C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1017081	NM_014285.7(EXOSC2):c.270+6G>A	EXOSC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1672284	NM_014285.7(EXOSC2):c.270+8C>T	EXOSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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