PEG10[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 1196294	NC_000007.14:g.94656435G>A	PEG10, SGCE	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2338836	NM_001172438.3(PEG10):c.38G>A (p.Arg13Lys)	PEG10 (R13K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3211336	NM_001172438.3(PEG10):c.39G>C (p.Arg13Ser)	PEG10 (R13S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2325551	NM_001172438.3(PEG10):c.73C>A (p.Pro25Thr)	PEG10 (P25T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2607462	NM_001172438.3(PEG10):c.118A>G (p.Thr40Ala)	PEG10 (T40A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211332	NM_001172438.3(PEG10):c.130G>C (p.Gly44Arg)	PEG10 (G2R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211333	NM_001040152.2(PEG10):c.76G>A (p.Glu26Lys)	PEG10 (E26K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211335	NM_001040152.2(PEG10):c.162T>A (p.Asp54Glu)	PEG10 (D130E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510193	NM_001040152.2(PEG10):c.184C>T (p.Arg62Cys)	PEG10 (R96C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234888	NM_001040152.2(PEG10):c.211C>T (p.Pro71Ser)	PEG10 (P71S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275435	NM_001040152.2(PEG10):c.214C>G (p.Pro72Ala)	PEG10 (P106A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211337	NM_001040152.2(PEG10):c.233G>A (p.Cys78Tyr)	PEG10 (C78Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283594	NM_001040152.2(PEG10):c.293C>T (p.Ala98Val)	PEG10 (A174V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305738	NM_001040152.2(PEG10):c.478G>A (p.Asp160Asn)	PEG10 (D160N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235796	NM_001040152.2(PEG10):c.742C>T (p.Arg248Cys)	PEG10 (R248C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211338	NM_001040152.2(PEG10):c.763C>T (p.Arg255Trp)	PEG10 (R255W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538001	NM_001040152.2(PEG10):c.839G>A (p.Arg280His)	PEG10 (R356H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211331	NM_001040152.2(PEG10):c.865C>T (p.Arg289Cys)	PEG10 (R323C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490405	NM_001040152.2(PEG10):c.947C>T (p.Ser316Leu)	PEG10 (S316L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	ASB4, BET1 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563412	GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1	C7orf76, CASD1 +15 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 425523	GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1	CASD1, PEG10 +2 more	Copy number loss	not provided	GLikely pathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221464	GRCh37/hg19 7q21.3(chr7:94156496-94285902)x3	CASD1, PEG10 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 37