ClinVar for Gene (Select 79000) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333486	NM_024037.3(AUNIP):c.653C>T (p.Pro218Leu)	AUNIP (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296611	NM_001099625.2(MTFR1L):c.809T>C (p.Val270Ala)	AUNIP, MTFR1L (V270A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132333	NM_024037.3(AUNIP):c.853A>C (p.Ser285Arg)	AUNIP (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132332	NM_024037.3(AUNIP):c.400C>A (p.Pro134Thr)	AUNIP (P134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2588687	NM_024037.3(AUNIP):c.70A>C (p.Lys24Gln)	AUNIP (K24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545876	NM_024037.3(AUNIP):c.1038C>G (p.Asp346Glu)	AUNIP (D346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513595	NM_024037.3(AUNIP):c.955C>A (p.Pro319Thr)	AUNIP (P319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463486	NM_024037.3(AUNIP):c.146A>G (p.Tyr49Cys)	AUNIP (Y49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2409010	NM_024037.3(AUNIP):c.14G>T (p.Gly5Val)	AUNIP (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403428	NM_024037.3(AUNIP):c.143T>C (p.Ile48Thr)	AUNIP (I48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371235	NM_024037.3(AUNIP):c.758C>T (p.Ser253Phe)	AUNIP (S253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362306	NM_024037.3(AUNIP):c.202T>A (p.Phe68Ile)	AUNIP (F68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353838	NM_024037.3(AUNIP):c.542G>A (p.Ser181Asn)	AUNIP (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328112	NM_024037.3(AUNIP):c.233G>A (p.Gly78Asp)	AUNIP (G78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318044	NM_024037.3(AUNIP):c.767G>A (p.Gly256Glu)	AUNIP (G256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317697	NM_024037.3(AUNIP):c.977C>T (p.Ala326Val)	AUNIP (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 929348	GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3	AUNIP, LDLRAP1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 782229	NM_024037.3(AUNIP):c.780_789del (p.Glu260fs)	AUNIP (E260fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27