2512[HGNC] - ClinVar

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Items: 81

	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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 2348579	NM_003798.4(CTNNAL1):c.1996C>G (p.Leu666Val)	ABITRAM, CTNNAL1 (L666V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559155	NM_003798.4(CTNNAL1):c.1994C>T (p.Pro665Leu)	ABITRAM, CTNNAL1 (P665L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078641	NM_003798.4(CTNNAL1):c.1950C>G (p.Asp650Glu)	ABITRAM, CTNNAL1 (D650E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250280	NM_003798.4(CTNNAL1):c.1922T>G (p.Val641Gly)	ABITRAM, CTNNAL1 (V641G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078639	NM_003798.4(CTNNAL1):c.1913C>T (p.Thr638Ile)	ABITRAM, CTNNAL1 (T638I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204605	NM_003798.4(CTNNAL1):c.1909C>T (p.Leu637Phe)	ABITRAM, CTNNAL1 (L637F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270134	NM_003798.4(CTNNAL1):c.1778T>A (p.Ile593Asn)	CTNNAL1, LOC126860724 (I593N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395960	NM_003798.4(CTNNAL1):c.1767G>C (p.Gln589His)	CTNNAL1, LOC126860724 (Q589H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284257	NM_003798.4(CTNNAL1):c.1694T>C (p.Ile565Thr)	CTNNAL1, LOC126860724 (I565T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286910	NM_003798.4(CTNNAL1):c.1646T>A (p.Leu549Gln)	CTNNAL1, LOC126860724 (L549Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371791	NM_003798.4(CTNNAL1):c.1367A>G (p.His456Arg)	CTNNAL1 (H456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336253	NM_003798.4(CTNNAL1):c.1358T>C (p.Leu453Ser)	CTNNAL1 (L453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380061	NM_003798.4(CTNNAL1):c.1355G>A (p.Arg452Gln)	CTNNAL1 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271842	NM_003798.4(CTNNAL1):c.1298T>G (p.Leu433Trp)	CTNNAL1 (L433W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776438	NM_003798.4(CTNNAL1):c.1271C>G (p.Thr424Ser)	CTNNAL1 (T424S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2516103	NM_003798.4(CTNNAL1):c.1265A>C (p.Lys422Thr)	CTNNAL1 (K422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780822	NM_003798.4(CTNNAL1):c.1189-17CA[4]	CTNNAL1	Microsatellite (intron variant)	not provided	GBenign
Select item 2568638	NM_003798.4(CTNNAL1):c.1126G>A (p.Ala376Thr)	CTNNAL1 (A376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535326	NM_003798.4(CTNNAL1):c.1052C>T (p.Thr351Ile)	CTNNAL1 (T351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078650	NM_003798.4(CTNNAL1):c.983G>T (p.Arg328Leu)	CTNNAL1 (R328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078649	NM_003798.4(CTNNAL1):c.973A>G (p.Ile325Val)	CTNNAL1 (I325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379161	NM_003798.4(CTNNAL1):c.842C>T (p.Pro281Leu)	CTNNAL1 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078646	NM_003798.4(CTNNAL1):c.820G>A (p.Glu274Lys)	CTNNAL1 (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592307	NM_003798.4(CTNNAL1):c.790C>T (p.Arg264Cys)	CTNNAL1 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078645	NM_003798.4(CTNNAL1):c.766A>G (p.Lys256Glu)	CTNNAL1 (K256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545958	NM_003798.4(CTNNAL1):c.730A>G (p.Thr244Ala)	CTNNAL1 (T244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285864	NM_003798.4(CTNNAL1):c.511A>G (p.Arg171Gly)	CTNNAL1 (R171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339089	NM_003798.4(CTNNAL1):c.482G>A (p.Arg161Gln)	CTNNAL1 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078643	NM_003798.4(CTNNAL1):c.373C>A (p.His125Asn)	CTNNAL1 (H125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731107	NM_003798.4(CTNNAL1):c.209G>A (p.Arg70His)	CTNNAL1 (R70H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2298387	NM_003798.4(CTNNAL1):c.208C>T (p.Arg70Cys)	CTNNAL1 (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078638	NM_003798.4(CTNNAL1):c.151C>T (p.Leu51Phe)	CTNNAL1 (L51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378714	NM_003798.4(CTNNAL1):c.149C>T (p.Thr50Met)	CTNNAL1 (T50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078648	NM_003798.4(CTNNAL1):c.89T>C (p.Leu30Pro)	CTNNAL1 (L30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078647	NM_003798.4(CTNNAL1):c.85G>C (p.Gly29Arg)	CTNNAL1 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270135	NM_003798.4(CTNNAL1):c.82T>A (p.Ser28Thr)	CTNNAL1 (S28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304622	NM_003798.4(CTNNAL1):c.79G>C (p.Asp27His)	CTNNAL1 (D27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307996	NM_003798.4(CTNNAL1):c.25G>A (p.Gly9Ser)	CTNNAL1 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078642	NM_003798.4(CTNNAL1):c.22G>A (p.Ala8Thr)	CTNNAL1 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245318	NC_000009.11:g.(?_111631395)_(111929571_?)del	TMEM245, ABITRAM +4 more	Deletion	not provided	GPathogenic
Select item 3063113	GRCh37/hg19 9q31.3(chr9:111638923-112074439)x3	ABITRAM, CTNNAL1 +5 more	Copy number gain	not specified	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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527543	GRCh37/hg19 9q31.3(chr9:111560213-111984713)	ABITRAM, ACTL7A +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1042382	NC_000009.11:g.(?_111640893)_(111929571_?)dup	ABITRAM, CTNNAL1 +4 more	Duplication	Developmental and epileptic encephalopathy, 37	GUncertain significance
Select item 979864	GRCh37/hg19 9q31.2-31.3(chr9:110273670-111717897)x3	ELP1, ABITRAM +3 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 685992	GRCh37/hg19 9q31.3(chr9:111640523-112087673)x3	ABITRAM, CTNNAL1 +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 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	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 523243	GRCh37/hg19 9q31.3(chr9:111624558-111812725)	ABITRAM, ACTL7A +4 more	Copy number gain	Profound global developmental delay +4 more	GUncertain significance
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 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	See cases	GPathogenic
Select item 394021	GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3	ELP1, EPB41L4B +15 more	Copy number gain	See cases	GLikely pathogenic
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: 81