ClinVar for Gene (Select 441452) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2354108	NM_001145124.1(SPATA31C1):c.1814C>A (p.Ser605Tyr)	LOC497256, SPATA31C1 (S605Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350423	NM_001145124.1(SPATA31C1):c.725G>A (p.Arg242Gln)	LOC497256, SPATA31C1 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261295	NM_001145124.1(SPATA31C1):c.551G>T (p.Gly184Val)	LOC497256, SPATA31C1 (G184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255794	NM_001145124.1(SPATA31C1):c.1282G>A (p.Val428Ile)	LOC497256, SPATA31C1 (V428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252658	NM_001145124.1(SPATA31C1):c.2609C>A (p.Ala870Asp)	LOC497256, SPATA31C1 (A870D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250351	NM_001145124.1(SPATA31C1):c.1849A>T (p.Asn617Tyr)	LOC497256, SPATA31C1 (N617Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235618	NM_001145124.1(SPATA31C1):c.1390G>C (p.Gly464Arg)	LOC497256, SPATA31C1 (G464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234295	NM_001145124.1(SPATA31C1):c.2754G>A (p.Met918Ile)	LOC497256, SPATA31C1 (M918I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232828	NM_001145124.1(SPATA31C1):c.1639G>T (p.Gly547Trp)	LOC497256, SPATA31C1 (G547W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214232	NM_001145124.1(SPATA31C1):c.430G>T (p.Asp144Tyr)	LOC497256, SPATA31C1 (D144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204734	NM_001145124.1(SPATA31C1):c.1258T>C (p.Ser420Pro)	LOC497256, SPATA31C1 (S420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204164	NM_001145124.1(SPATA31C1):c.965T>C (p.Met322Thr)	LOC497256, SPATA31C1 (M322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808880	GRCh37/hg19 9q21.33-22.1(chr9:90266171-90565780)x3	CTSL, DAPK1 +2 more	Copy number gain	not provided	GUncertain significance
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 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 1340226	GRCh37/hg19 9q21.33-22.1(chr9:90336741-90609494)x3	CDK20, CTSL +2 more	Copy number gain	not provided	GUncertain significance
Select item 1339992	GRCh37/hg19 9q22.1(chr9:90522581-90627994)x1	CDK20, SPATA31C1	Copy number loss	not provided	GUncertain significance
Select item 1330172	GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1	C9orf47, CDK20 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 979859	GRCh37/hg19 9q22.1(chr9:90522580-90609494)x1	CDK20, SPATA31C1	Copy number loss	not provided	GUncertain significance
Select item 979267	GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1	CKS2, DAPK1-IT1 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 815266	GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3	AUH, C9orf47 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 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 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 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 394718	GRCh37/hg19 9q22.1(chr9:90497901-90534154)x3	SPATA31C1, SPATA31E1	Copy number gain	See cases	GLikely benign
Select item 394194	GRCh37/hg19 9q22.1(chr9:90503773-90538211)x3	SPATA31E1, SPATA31C1	Copy number gain	See cases	GBenign
Select item 394086	GRCh37/hg19 9q21.33-22.1(chr9:90388377-90809114)x3	CDK20, SPATA31C1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 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 149170	GRCh38/hg38 9q21.33-22.1(chr9:87209403-87977877)x3	CDK20, CTSL +28 more	Copy number gain	See cases	GUncertain significance
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57292	GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1	C9orf47, CDK20 +131 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 51