QRFP[gene] - ClinVar

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Items: 62

	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 2281335	NM_198180.3(QRFP):c.395G>A (p.Arg132His)	QRFP (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150325	NM_198180.3(QRFP):c.394C>T (p.Arg132Cys)	QRFP (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150324	NM_198180.3(QRFP):c.370A>T (p.Arg124Trp)	QRFP (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588704	NM_198180.3(QRFP):c.323C>T (p.Thr108Ile)	QRFP (T108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482643	NM_198180.3(QRFP):c.314G>A (p.Gly105Glu)	QRFP (G105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375253	NM_198180.3(QRFP):c.295G>A (p.Gly99Ser)	QRFP (G99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318220	NM_198180.3(QRFP):c.283A>G (p.Ser95Gly)	QRFP (S95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228741	NM_198180.3(QRFP):c.265G>A (p.Gly89Arg)	QRFP (G89R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 719976	NM_198180.3(QRFP):c.260G>A (p.Arg87His)	QRFP (R87H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3150322	NM_198180.3(QRFP):c.259C>T (p.Arg87Cys)	QRFP (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778455	NM_198180.3(QRFP):c.239A>G (p.Glu80Gly)	QRFP (E80G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377390	NM_198180.3(QRFP):c.230C>T (p.Ser77Leu)	QRFP (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768330	NM_198180.3(QRFP):c.228A>T (p.Thr76=)	QRFP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3311933	NM_198180.3(QRFP):c.212C>T (p.Ala71Val)	QRFP (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336024	NM_198180.3(QRFP):c.209T>G (p.Ile70Arg)	QRFP (I70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783561	NM_198180.3(QRFP):c.203T>A (p.Leu68His)	QRFP (L68H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222087	NM_198180.3(QRFP):c.154G>A (p.Val52Met)	QRFP (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311934	NM_198180.3(QRFP):c.150C>A (p.His50Gln)	QRFP (H50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258093	NM_198180.3(QRFP):c.136G>C (p.Gly46Arg)	QRFP (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150321	NM_198180.3(QRFP):c.115C>T (p.Arg39Cys)	QRFP (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150320	NM_198180.3(QRFP):c.107C>T (p.Ala36Val)	QRFP (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779929	NM_198180.3(QRFP):c.105A>G (p.Gly35=)	QRFP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2476061	NM_198180.3(QRFP):c.104G>A (p.Gly35Glu)	QRFP (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381166	NM_198180.3(QRFP):c.41C>T (p.Pro14Leu)	QRFP (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267960	NM_198180.3(QRFP):c.40C>A (p.Pro14Thr)	QRFP (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245343	NC_000009.11:g.(?_133540041)_(133884994_?)dup	ABL1, EXOSC2 +4 more	Duplication	not provided	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 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 2685365	GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	ABL1, ASS1 +11 more	Copy number loss	not provided	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 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	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 830950	NC_000009.12:g.(?_130664644)_(131523116_?)dup	ABL1, AIF1L +10 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 688817	GRCh37/hg19 9q34.11-34.12(chr9:133276056-133851405)x1	ABL1, ASS1 +6 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 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 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: 62