158401[geneid] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +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 1693569	NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His)	SHOC1 (R1351H +2 more)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 3161862	NM_001378211.1(SHOC1):c.4438T>C (p.Ser1480Pro)	SHOC1 (S1480P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161861	NM_001378211.1(SHOC1):c.4321A>G (p.Lys1441Glu)	SHOC1 (K1377E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161858	NM_001378211.1(SHOC1):c.4295G>A (p.Arg1432His)	SHOC1 (R1368H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161857	NM_001378211.1(SHOC1):c.4108C>T (p.His1370Tyr)	SHOC1 (H1267Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161856	NM_001378211.1(SHOC1):c.4001C>G (p.Ala1334Gly)	SHOC1 (A1196G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161855	NM_001378211.1(SHOC1):c.3090G>T (p.Glu1030Asp)	SHOC1 (E892D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659429	NM_001378211.1(SHOC1):c.2980T>C (p.Leu994=)	SHOC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3161854	NM_001378211.1(SHOC1):c.2677A>G (p.Lys893Glu)	SHOC1 (K755E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2571336	NM_001378211.1(SHOC1):c.2505C>T (p.Val835=)	SHOC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1693568	NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr)	SHOC1 (A621T +1 more)	Single nucleotide variant (missense variant +2 more)	Spermatogenic failure 75	GPathogenic
Select item 3061758	NM_001378211.1(SHOC1):c.2131+2T>C	SHOC1	Single nucleotide variant (splice donor variant)	Male infertility	GPathogenic
Select item 3161852	NM_001378211.1(SHOC1):c.2104A>G (p.Lys702Glu)	SHOC1 (K702E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1693564	NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter)	SHOC1 (R489* +1 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 75 +1 more	GPathogenic/Likely pathogenic
Select item 1693567	NM_001378211.1(SHOC1):c.1656del (p.Asp553fs)	SHOC1 (D450fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 2659430	NM_001378211.1(SHOC1):c.1587A>G (p.Lys529=)	SHOC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3061759	NM_001378211.1(SHOC1):c.1543del (p.Ser515fs)	SHOC1 (S412fs +2 more)	Deletion (frameshift variant +1 more)	Male infertility	GPathogenic
Select item 3061760	NM_001378211.1(SHOC1):c.1539T>A (p.Cys513Ter)	SHOC1 (C410* +2 more)	Single nucleotide variant (nonsense +1 more)	Male infertility	GPathogenic
Select item 1693566	NM_001378211.1(SHOC1):c.1386del (p.Leu464fs)	SHOC1 (L361fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 1244232	NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs)	SHOC1 (E323fs +2 more)	Microsatellite (frameshift variant +1 more)	Non-obstructive azoospermia	GPathogenic
Select item 3061761	NM_001378211.1(SHOC1):c.1137_1140del (p.Glu379fs)	SHOC1 (E276fs +2 more)	Deletion (frameshift variant +1 more)	Male infertility	GPathogenic
Select item 1693563	NM_001378211.1(SHOC1):c.989del (p.Leu330fs)	SHOC1 (L227fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 2659431	NM_001378211.1(SHOC1):c.779C>T (p.Ser260Leu)	SHOC1 (S157L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3161863	NM_001378211.1(SHOC1):c.616G>C (p.Glu206Gln)	SHOC1 (E142Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161853	NM_001378211.1(SHOC1):c.437A>G (p.Asn146Ser)	SHOC1 (N146S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1693565	NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs)	SHOC1 (L142fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	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 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 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 563564	GRCh37/hg19 9q31.3(chr9:114450556-114508605)x1	SHOC1	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61