1365[HGNC] - ClinVar

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Items: 64

	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 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 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
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 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 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 2277796	NM_017586.5(CACFD1):c.25G>A (p.Gly9Arg)	CACFD1 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487074	NM_017586.5(CACFD1):c.87G>T (p.Trp29Cys)	CACFD1 (W29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550987	NM_017586.5(CACFD1):c.101C>G (p.Ser34Cys)	CACFD1 (S34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262672	NM_017586.5(CACFD1):c.127G>A (p.Ala43Thr)	CACFD1 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262671	NM_017586.5(CACFD1):c.184G>A (p.Val62Met)	CACFD1 (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469997	NM_017586.5(CACFD1):c.227C>T (p.Ala76Val)	CACFD1 (A76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136271	NM_017586.5(CACFD1):c.250G>A (p.Glu84Lys)	CACFD1 (E84K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253208	NM_017586.5(CACFD1):c.265G>A (p.Val89Met)	CACFD1 (V89M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260344	NM_017586.5(CACFD1):c.280G>A (p.Asp94Asn)	CACFD1 (D94N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262669	NM_017586.5(CACFD1):c.290G>A (p.Arg97His)	CACFD1 (R97H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136272	NM_017586.5(CACFD1):c.337A>G (p.Ile113Val)	CACFD1 (I113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345922	NM_017586.5(CACFD1):c.362C>T (p.Thr121Met)	CACFD1 (T79M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262670	NM_017586.5(CACFD1):c.429-195G>A	CACFD1 (A111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491099	NM_017586.5(CACFD1):c.432C>G (p.Gly144=)	CACFD1 (A144G +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3136274	NM_017586.5(CACFD1):c.446A>T (p.Tyr149Phe)	CACFD1 (Y107F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212432	NM_017586.5(CACFD1):c.492C>T (p.Leu164=)	CACFD1, LOC130002915 (S164L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3262668	NM_017586.5(CACFD1):c.494C>T (p.Ala165Val)	CACFD1, LOC130002915 (A123V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239525	NM_017586.5(CACFD1):c.507G>C (p.Glu169Asp)	CACFD1, LOC130002915 (R169T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136275	NM_017586.5(CACFD1):c.508G>C (p.Gly170Arg)	CACFD1, LOC130002915 (G170R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618348	NM_017586.5(CACFD1):c.*12C>T	CACFD1, LOC130002915 (A177V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270756	NM_017586.5(CACFD1):c.*45G>A	CACFD1, LOC130002915 (C230Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
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 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
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 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
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 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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 64