25413[HGNC] - ClinVar

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Items: 90

	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	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 3172241	NM_022486.5(SUSD1):c.2239G>A (p.Val747Met)	LOC126860731, SUSD1 (V747M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172240	NM_022486.5(SUSD1):c.2224C>T (p.Leu742Phe)	LOC126860731, SUSD1 (L742F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 709180	NM_022486.5(SUSD1):c.2199G>A (p.Leu733=)	LOC126860731, SUSD1 (W755* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2346651	NM_022486.5(SUSD1):c.2179G>A (p.Gly727Ser)	LOC126860731, SUSD1 (G727S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2409163	NM_022486.5(SUSD1):c.2141A>C (p.Gln714Pro)	SUSD1 (Q714P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342535	NM_022486.5(SUSD1):c.2092A>G (p.Thr698Ala)	SUSD1 (T698A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744585	NM_022486.5(SUSD1):c.2040T>C (p.Tyr680=)	SUSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172239	NM_022486.5(SUSD1):c.1936G>A (p.Ala646Thr)	SUSD1 (A646T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223303	NM_022486.5(SUSD1):c.1915G>T (p.Ala639Ser)	SUSD1 (A639S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172238	NM_022486.5(SUSD1):c.1898C>A (p.Ser633Tyr)	SUSD1 (S633Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770751	NM_022486.5(SUSD1):c.1768G>A (p.Glu590Lys)	SUSD1 (E590K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 755929	NM_022486.5(SUSD1):c.1734C>T (p.Ser578=)	SUSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295333	NM_022486.5(SUSD1):c.1705C>G (p.Leu569Val)	SUSD1 (L569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558268	NM_022486.5(SUSD1):c.1673C>T (p.Pro558Leu)	SUSD1 (P558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388170	NM_022486.5(SUSD1):c.1669C>T (p.Arg557Cys)	SUSD1 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268084	NM_022486.5(SUSD1):c.1633A>G (p.Ser545Gly)	SUSD1 (S545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323677	NM_022486.5(SUSD1):c.1546G>C (p.Asp516His)	SUSD1 (D516H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716152	NM_022486.5(SUSD1):c.1475-8C>T	SUSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2343795	NM_022486.5(SUSD1):c.1435C>T (p.Arg479Trp)	SUSD1 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334550	NM_022486.5(SUSD1):c.1420C>G (p.Leu474Val)	SUSD1 (L474V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726097	NM_022486.5(SUSD1):c.1407G>T (p.Val469=)	SUSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212644	NM_022486.5(SUSD1):c.1354G>A (p.Glu452Lys)	SUSD1 (E452K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558399	NM_022486.5(SUSD1):c.1352G>A (p.Arg451Lys)	SUSD1 (R451K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472690	NM_022486.5(SUSD1):c.1330A>G (p.Thr444Ala)	SUSD1 (T444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172237	NM_022486.5(SUSD1):c.1327G>T (p.Ala443Ser)	SUSD1 (A443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528342	NM_022486.5(SUSD1):c.1321T>C (p.Ser441Pro)	SUSD1 (S441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340515	NM_022486.5(SUSD1):c.1246C>T (p.Arg416Cys)	SUSD1 (R416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403768	NM_022486.5(SUSD1):c.1245G>T (p.Arg415Ser)	SUSD1 (R415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323676	NM_022486.5(SUSD1):c.1216T>C (p.Phe406Leu)	SUSD1 (F406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323675	NM_022486.5(SUSD1):c.1205A>G (p.Asn402Ser)	SUSD1 (N402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721080	NM_022486.5(SUSD1):c.1108G>A (p.Val370Met)	SUSD1 (V370M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2616799	NM_022486.5(SUSD1):c.1024G>A (p.Val342Ile)	SUSD1 (V342I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223675	NM_022486.5(SUSD1):c.1013C>T (p.Pro338Leu)	SUSD1 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490167	NM_022486.5(SUSD1):c.870T>A (p.Ser290Arg)	SUSD1 (S290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172246	NM_022486.5(SUSD1):c.788G>A (p.Arg263His)	SUSD1 (R263H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314881	NM_022486.5(SUSD1):c.787C>T (p.Arg263Cys)	SUSD1 (R263C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3323678	NM_022486.5(SUSD1):c.784G>A (p.Ala262Thr)	SUSD1 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172245	NM_022486.5(SUSD1):c.778G>C (p.Gly260Arg)	SUSD1 (G260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518386	NM_022486.5(SUSD1):c.778G>A (p.Gly260Ser)	SUSD1 (G260S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172244	NM_022486.5(SUSD1):c.737G>A (p.Arg246Gln)	SUSD1 (R246Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250007	NM_022486.5(SUSD1):c.607C>T (p.Arg203Cys)	SUSD1 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773228	NM_022486.5(SUSD1):c.601C>G (p.Gln201Glu)	SUSD1 (Q201E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3172243	NM_022486.5(SUSD1):c.542C>T (p.Thr181Ile)	SUSD1 (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789776	NM_022486.5(SUSD1):c.524C>T (p.Thr175Ile)	SUSD1 (T175I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2244931	NM_022486.5(SUSD1):c.508G>A (p.Asp170Asn)	SUSD1 (D170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285127	NM_022486.5(SUSD1):c.490C>T (p.Pro164Ser)	SUSD1 (P164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517430	NM_022486.5(SUSD1):c.424G>A (p.Val142Met)	SUSD1 (V142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208133	NM_022486.5(SUSD1):c.346A>T (p.Ile116Phe)	SUSD1 (I116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783555	NM_022486.5(SUSD1):c.306C>T (p.Cys102=)	SUSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315676	NM_022486.5(SUSD1):c.286G>A (p.Gly96Arg)	SUSD1 (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406651	NM_022486.5(SUSD1):c.262C>T (p.His88Tyr)	SUSD1 (H88Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733698	NM_022486.5(SUSD1):c.198C>T (p.Asn66=)	SUSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473769	NM_022486.5(SUSD1):c.178A>C (p.Asn60His)	SUSD1 (N60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770584	NM_022486.5(SUSD1):c.111C>T (p.Asp37=)	SUSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2481627	NM_022486.5(SUSD1):c.32C>T (p.Ser11Phe)	LOC130002391, SUSD1 (S11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172242	NM_022486.5(SUSD1):c.23C>T (p.Ala8Val)	LOC130002391, SUSD1 (A8V)	Single nucleotide variant (missense variant)	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 1707440	GRCh37/hg19 9q31.3-32(chr9:113673200-115935268)x1	DNAJC25, DNAJC25-GNG10 +19 more	Copy number loss	See cases	GUncertain significance
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 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 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 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 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 563656	GRCh37/hg19 9q31.3-32(chr9:114726761-115498466)x3	PTBP3, KIAA1958 +3 more	Copy number gain	not provided	GUncertain significance
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 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	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 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: 90