ClinVar for Gene (Select 28) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3035085	NM_020469.3(ABO):c.826G>A (p.Glu276Lys)	ABO (E276K)	Single nucleotide variant (missense variant)	ABO-related disorder	GLikely benign
Select item 3035005	NM_020469.3(ABO):c.768C>T (p.Ile256=)	ABO	Single nucleotide variant (synonymous variant)	ABO-related disorder	GLikely benign
Select item 2659692	NM_020469.3(ABO):c.529G>A (p.Ala177Thr)	ABO (A177T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2573159	NM_020469.3(ABO):c.526= (p.Arg176=)	ABO	Variation (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573158	NM_020469.3(ABO):c.496del (p.Thr166fs)	ABO (T166fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573157	NM_020469.3(ABO):c.15dup (p.Arg6fs)	ABO (R6fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573156	NM_020469.3(ABO):c.297A>C (p.Thr99=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573155	NM_020469.3(ABO):c.1_5dup (p.Glu3fs)	ABO (E3fs)	Duplication (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573154	NM_020469.3(ABO):c.[297A>C;496del526=657C>T703G>A796C>A803G>C930G>A]	ABO (G268A +3 more)	Single nucleotide variant (missense variant +3 more)	Severely weakened expression of B on erythrocytes	GBenign
Select item 2573153	NM_020469.3(ABO):c.[15dup;297A>C526C>G657C>T703G>A796C>A803G>C930G>A]	ABO (G268A +4 more)	Single nucleotide variant (missense variant +2 more)	Severely weakened expression of B on erythrocytes	GBenign
Select item 2573152	NM_020469.3(ABO):c.[1_5dup;297A>C526C>G657C>T703G>A796C>A803G>C930G>A]	ABO (G268A +4 more)	Single nucleotide variant (missense variant +3 more)	Severely weakened expression of B on erythrocytes	GBenign
Select item 2573151	NM_020469.3(ABO):c.102C>A (p.Tyr34Ter)	ABO (Y34*)	Single nucleotide variant (nonsense)	Severely weakened expression of A on erythrocytes	GBenign
Select item 2573150	NM_020469.3(ABO):c.42C>A (p.Cys14Ter)	ABO (C14*)	Single nucleotide variant (nonsense)	Severely weakened expression of A on erythrocytes	GBenign
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 1707607	NM_020469.3(ABO):c.28+5871C>A	ABO, LOC112679198	Single nucleotide variant (intron variant)	ABO blood group system	GAffects
Select item 1696781	NM_020469.3(ABO):c.703G>A (p.Gly235Ser)	ABO (G235S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696780	NM_020469.3(ABO):c.297A>G (p.Thr99=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696779	NM_020469.3(ABO):c.526C>G (p.Arg176Gly)	ABO (R176G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696778	NM_020469.3(ABO):c.657C>T (p.His219=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696777	NM_020469.3(ABO):c.796C>A (p.Leu266Met)	ABO (L266M)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696776	NM_020469.3(ABO):c.930G>A (p.Leu310=)	ABO	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1185571	NM_020469.3(ABO):c.261dup (p.Thr88fs)	ABO (T88fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1185570	NM_020469.3(ABO):c.989T>C (p.Leu330Pro)	ABO (L330P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1185562	NM_020469.3(ABO):c.[1061del;467C>T989T>C]	ABO (P354fs +3 more)	Deletion (frameshift variant +1 more)	ABO blood group system	GAffects
Select item 1185001	NM_020469.3(ABO):c.106dup (p.Val36fs)	ABO (V36fs)	Duplication (frameshift variant)	Severely weakened expression of A on erythrocytes +1 more	GBenign; Affects
Select item 1172913	NM_020469.3(ABO):c.29-4288A>G	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 1172912	NM_020469.3(ABO):c.28+748T>C	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 1172911	NM_020469.3(ABO):c.28+1179T>C	ABO	Single nucleotide variant (intron variant)	ABO blood group system	Gassociation
Select item 1172910	NM_020469.3(ABO):c.28+867_28+868delinsA	ABO	Indel (intron variant)	ABO blood group system	Gassociation
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	ABO, ADAMTS13 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 815302	GRCh37/hg19 9q34.2(chr9:135920220-136139686)x1	ABO, CEL +4 more	Copy number loss	not provided	GUncertain significance
Select item 812633	NM_020469.3(ABO):c.203+102C>A	ABO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812632	NM_020469.3(ABO):c.646T>A (p.Phe216Ile)	ABO (F216I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 812631	NM_020469.3(ABO):c.373+163T>C	ABO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812630	NM_020469.3(ABO):c.373+446A>G	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812629	NM_020469.3(ABO):c.28+1929G>C	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812628	NM_020469.3(ABO):c.29-6479T>A	ABO, LOC112679198	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812627	NM_020469.3(ABO):c.29-4774=	ABO	Variation (intron variant)	Three Vessel Coronary Disease	GBenign
Select item 812626	NM_020469.3(ABO):c.29-75A>G	ABO	Single nucleotide variant (intron variant)	Three Vessel Coronary Disease	GUncertain significance
Select item 769758	NM_020469.3(ABO):c.106G>T (p.Val36Phe)	ABO (V36F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769757	NM_020469.3(ABO):c.220C>T (p.Pro74Ser)	ABO (P74S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768332	NM_020469.3(ABO):c.188= (p.Arg63=)	ABO	Variation (no sequence alteration)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394160	GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3	ABO, CEL +13 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 242769	NM_020469.2(ABO):c.467C>T (p.Pro156Leu)	ABO (P156L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242740	NM_020469.3(ABO):c.803G>C (p.Gly268Ala)	ABO (G268A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 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 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 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 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 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 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 17739	NM_020469.3(ABO):c.700C>G (p.Pro234Ala)	ABO (P234A)	Single nucleotide variant (missense variant)	ABO blood group system	GAffects
Select item 17738	NM_020469.2(ABO):c.[467C>T;803G>C]	ABO (G268A +1 more)	Single nucleotide variant (missense variant)	ABO blood group system	Gassociation
Select item 17737	NM_020469.3(ABO):c.1061del (p.Pro354fs)	ABO (P354fs)	Deletion (frameshift variant)	ABO blood group system	GAffects
Select item 17736	ABO*B	ABO (G268A +3 more)	Single nucleotide variant (missense variant +1 more)	ABO blood group system	GAffects
Select item 17735	NM_020469.2(ABO):c.261delG (p.Thr88Profs)	ABO (T88fs)	Deletion (frameshift variant)	not provided	GBenign

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Links from Gene

Items: 90