ClinVar for Gene (Select 80143) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 3162276	NM_025073.3(SIKE1):c.38A>G (p.Lys13Arg)	SIKE1 (K13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162275	NM_025073.3(SIKE1):c.340C>G (p.Gln114Glu)	SIKE1 (Q118E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162274	NM_025073.3(SIKE1):c.175T>A (p.Ser59Thr)	SIKE1 (S59T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162273	NM_025073.3(SIKE1):c.17A>G (p.Glu6Gly)	SIKE1 (E6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162272	NM_025073.3(SIKE1):c.10A>G (p.Thr4Ala)	SIKE1 (T4A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2380623	NM_025073.3(SIKE1):c.443T>C (p.Met148Thr)	SIKE1 (M148T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808291	GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1	AMPD1, BCAS2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 150274	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1	AMPD1, BCAS2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20