SHOC1[gene] - ClinVar

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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	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 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

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Items: 61