16462[HGNC] - ClinVar

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Items: 56

	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 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	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 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 3171591	NM_018387.5(STRBP):c.1949C>A (p.Pro650His)	STRBP (P636H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171590	NM_018387.5(STRBP):c.1873G>C (p.Ala625Pro)	STRBP (A611P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171589	NM_018387.5(STRBP):c.1823G>A (p.Arg608Gln)	STRBP (R608Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171588	NM_018387.5(STRBP):c.1518C>G (p.Ile506Met)	STRBP (I506M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171587	NM_018387.5(STRBP):c.1493T>C (p.Leu498Ser)	STRBP (L484S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373135	NM_018387.5(STRBP):c.1327G>A (p.Val443Ile)	STRBP (V429I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324235	NM_018387.5(STRBP):c.1216C>T (p.Leu406Phe)	STRBP (L392F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540928	NM_018387.5(STRBP):c.971A>G (p.Lys324Arg)	STRBP (K324R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536595	NM_018387.5(STRBP):c.916A>G (p.Ile306Val)	STRBP (I306V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323409	NM_018387.5(STRBP):c.775G>A (p.Gly259Ser)	STRBP (G259S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171595	NM_018387.5(STRBP):c.694G>A (p.Val232Ile)	STRBP (V218I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171594	NM_018387.5(STRBP):c.617A>G (p.Lys206Arg)	STRBP (K192R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323410	NM_018387.5(STRBP):c.608G>A (p.Arg203Gln)	STRBP (R189Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604568	NM_018387.5(STRBP):c.557C>T (p.Pro186Leu)	STRBP (P172L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382401	NM_018387.5(STRBP):c.545C>T (p.Ser182Leu)	STRBP (S182L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171593	NM_018387.5(STRBP):c.539A>C (p.Asn180Thr)	STRBP (N166T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215225	NM_018387.5(STRBP):c.529G>A (p.Asp177Asn)	STRBP (D163N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323412	NM_018387.5(STRBP):c.514G>C (p.Glu172Gln)	STRBP (E158Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171592	NM_018387.5(STRBP):c.505A>G (p.Ile169Val)	STRBP (I169V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323411	NM_018387.5(STRBP):c.487A>G (p.Ile163Val)	STRBP (I149V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612135	NM_018387.5(STRBP):c.155C>T (p.Thr52Ile)	STRBP (T52I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516386	NM_018387.5(STRBP):c.119G>A (p.Cys40Tyr)	STRBP (C40Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408545	NM_018387.5(STRBP):c.98A>G (p.Asn33Ser)	STRBP (N19S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 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 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 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 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1340430	GRCh37/hg19 9q33.2-33.3(chr9:125782663-125888286)x1	GPR21, RABGAP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815293	GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	CRB2, DENND1A +28 more	Copy number loss	not provided	GUncertain significance
Select item 688958	GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1	CRB2, DENND1A +15 more	Copy number loss	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 685364	GRCh37/hg19 9q33.2-33.3(chr9:125635604-125892381)x1	GPR21, RABGAP1 +4 more	Copy number loss	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 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 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

ClinVar

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Items: 56