A1CF[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 154129	GRCh38/hg38 10q11.23-21.1(chr10:50453699-51121757)x3	A1CF, ASAH2B +22 more	Copy number gain	See cases	GUncertain significance
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 2466569	NM_014576.4(A1CF):c.1672C>A (p.Leu558Ile)	A1CF (L574I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279286	NM_014576.4(A1CF):c.1618G>C (p.Val540Leu)	A1CF (V540L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389960	NM_014576.4(A1CF):c.1574T>C (p.Met525Thr)	A1CF (M525T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353926	NM_014576.4(A1CF):c.1500T>G (p.Asp500Glu)	A1CF (D516E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406257	NM_014576.4(A1CF):c.1489G>T (p.Ala497Ser)	A1CF (A497S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242854	NM_014576.4(A1CF):c.1463A>C (p.His488Pro)	A1CF (H496P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323999	NM_014576.4(A1CF):c.1306A>G (p.Ile436Val)	A1CF (I444V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395569	NM_014576.4(A1CF):c.1276A>G (p.Met426Val)	A1CF (M426V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132341	NM_014576.4(A1CF):c.1271C>G (p.Thr424Ser)	A1CF (T424S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600063	NM_014576.4(A1CF):c.1271C>T (p.Thr424Ile)	A1CF (T432I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132039	NM_014576.4(A1CF):c.1171C>T (p.Arg391Cys)	A1CF (R391C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779433	NM_014576.4(A1CF):c.1168G>A (p.Gly390Ser)	A1CF (G398S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3131657	NM_014576.4(A1CF):c.1148C>T (p.Ala383Val)	A1CF (A399V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754730	NM_014576.4(A1CF):c.1143G>A (p.Gly381=)	A1CF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368866	NM_014576.4(A1CF):c.1112G>C (p.Arg371Thr)	A1CF (R379T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774682	NM_014576.4(A1CF):c.882C>T (p.Ser294=)	A1CF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320308	NM_014576.4(A1CF):c.857T>C (p.Leu286Ser)	A1CF (L286S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786157	NM_014576.4(A1CF):c.585G>A (p.Ala195=)	A1CF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3136853	NM_014576.4(A1CF):c.582G>A (p.Met194Ile)	A1CF (M194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410875	NM_014576.4(A1CF):c.475G>T (p.Val159Phe)	A1CF (V167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259789	NM_014576.4(A1CF):c.277G>A (p.Gly93Ser)	A1CF (G101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781673	NM_014576.4(A1CF):c.228T>C (p.Cys76=)	A1CF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3135943	NM_014576.4(A1CF):c.218T>C (p.Ile73Thr)	A1CF (I73T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310084	NM_014576.4(A1CF):c.208G>A (p.Asp70Asn)	A1CF (D70N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135446	NM_014576.4(A1CF):c.151C>A (p.Pro51Thr)	A1CF (P59T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786824	NM_014576.4(A1CF):c.108A>G (p.Gly36=)	A1CF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 981852	NM_014576.4(A1CF):c.107G>A (p.Gly36Glu)	A1CF (G36E +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2234441	NM_014576.4(A1CF):c.100-6622G>A	A1CF (S15N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 687834	GRCh37/hg19 10q11.23-21.1(chr10:52082714-53320354)x3	A1CF, ASAH2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 563768	GRCh37/hg19 10q11.23-21.1(chr10:52085343-53314592)x3	A1CF, SGMS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 442719	GRCh37/hg19 10q11.23-21.1(chr10:52085343-53314592)x3	A1CF, ASAH2B +2 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 48