21338[HGNC] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +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 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 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 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 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 2388099	NM_016307.4(PRRX2):c.9C>A (p.Ser3Arg)	PRRX2 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219789	NM_016307.4(PRRX2):c.33C>G (p.Asp11Glu)	PRRX2 (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302041	NM_016307.4(PRRX2):c.55C>A (p.Pro19Thr)	PRRX2 (P19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219792	NM_016307.4(PRRX2):c.64C>G (p.Pro22Ala)	PRRX2 (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551441	NM_016307.4(PRRX2):c.139G>A (p.Glu47Lys)	PRRX2 (E47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229485	NM_016307.4(PRRX2):c.146T>G (p.Val49Gly)	PRRX2 (V49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397149	NM_016307.4(PRRX2):c.176C>T (p.Pro59Leu)	PRRX2 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394170	NM_016307.4(PRRX2):c.191A>G (p.Glu64Gly)	PRRX2 (E64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310626	NM_016307.4(PRRX2):c.199G>C (p.Glu67Gln)	PRRX2 (E67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219786	NM_016307.4(PRRX2):c.205G>A (p.Ala69Thr)	PRRX2 (A69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219787	NM_016307.4(PRRX2):c.211C>T (p.Arg71Trp)	PRRX2 (R71W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470213	NM_016307.4(PRRX2):c.251C>T (p.Pro84Leu)	PRRX2 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272290	NM_016307.4(PRRX2):c.275C>T (p.Pro92Leu)	PRRX2 (P92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310624	NM_016307.4(PRRX2):c.292G>T (p.Ala98Ser)	PRRX2 (A98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310625	NM_016307.4(PRRX2):c.293C>T (p.Ala98Val)	PRRX2 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522661	NM_016307.4(PRRX2):c.299G>T (p.Arg100Leu)	PRRX2 (R100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345043	NM_016307.4(PRRX2):c.307A>C (p.Lys103Gln)	PRRX2 (K103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613671	NM_016307.4(PRRX2):c.317G>A (p.Arg106Gln)	PRRX2 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219788	NM_016307.4(PRRX2):c.329C>G (p.Thr110Arg)	PRRX2 (T110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219790	NM_016307.4(PRRX2):c.371A>G (p.Glu124Gly)	PRRX2 (E124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310226	NM_016307.4(PRRX2):c.400C>G (p.Arg134Gly)	PRRX2 (R134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477644	NM_016307.4(PRRX2):c.424A>G (p.Asn142Asp)	PRRX2 (N142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459179	NM_016307.4(PRRX2):c.433G>C (p.Glu145Gln)	PRRX2 (E145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530299	NM_016307.4(PRRX2):c.524T>G (p.Leu175Arg)	PRRX2 (L175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219791	NM_016307.4(PRRX2):c.571C>G (p.Arg191Gly)	PRRX2 (R191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284119	NM_016307.4(PRRX2):c.580G>A (p.Ala194Thr)	PRRX2 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219793	NM_016307.4(PRRX2):c.656C>T (p.Ser219Leu)	PRRX2 (S219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550299	NM_016307.4(PRRX2):c.709C>T (p.Leu237Phe)	PRRX2 (L237F)	Single nucleotide variant (missense variant)	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 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	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 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 1808280	GRCh37/hg19 9q34.11(chr9:132449937-132807448)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 979879	GRCh37/hg19 9q34.11(chr9:132448018-132581300)x3	TOR1B, PTGES +2 more	Copy number gain	not provided	GUncertain significance
Select item 979878	GRCh37/hg19 9q34.11(chr9:132470092-133044256)x3	PRRX2, PTGES +7 more	Copy number gain	not provided	GUncertain significance
Select item 815299	GRCh37/hg19 9q34.11(chr9:132449936-132795093)x3	FNBP1, TOR1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687422	GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3	ASB6, ASS1 +12 more	Copy number gain	not provided	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 685514	GRCh37/hg19 9q34.11(chr9:132449921-132793004)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
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 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
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 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 394945	GRCh37/hg19 9q34.11(chr9:132483021-132581179)x3	PRRX2, PTGES +2 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

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Items: 73