ClinVar for Gene (Select 125950) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3151997	NM_133452.3(RAVER1):c.623C>T (p.Thr208Met)	RAVER1 (T208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151996	NM_133452.3(RAVER1):c.424A>G (p.Ser142Gly)	RAVER1 (S142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151995	NM_133452.3(RAVER1):c.361C>T (p.Arg121Cys)	RAVER1 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151994	NM_133452.3(RAVER1):c.2017G>A (p.Gly673Arg)	RAVER1 (G648R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151993	NM_133452.3(RAVER1):c.1838G>A (p.Arg613Gln)	RAVER1 (R588Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151991	NM_133452.3(RAVER1):c.1783C>T (p.Arg595Trp)	RAVER1 (R595W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151990	NM_133452.3(RAVER1):c.1718G>A (p.Arg573His)	RAVER1 (R548H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151989	NM_133452.3(RAVER1):c.1415G>A (p.Arg472Gln)	RAVER1 (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151988	NM_133452.3(RAVER1):c.1292G>A (p.Arg431Gln)	RAVER1 (R431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151987	NM_133452.3(RAVER1):c.1106C>T (p.Pro369Leu)	RAVER1 (P369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151986	NM_133452.3(RAVER1):c.1067G>T (p.Gly356Val)	RAVER1 (G356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2624365	NM_133452.3(RAVER1):c.449A>T (p.Glu150Val)	RAVER1 (E150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610214	NM_133452.3(RAVER1):c.1169A>G (p.Gln390Arg)	RAVER1 (Q390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596449	NM_133452.3(RAVER1):c.1759G>A (p.Asp587Asn)	RAVER1 (D587N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588372	NM_133452.3(RAVER1):c.2033G>A (p.Gly678Asp)	RAVER1 (G653D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540602	NM_133452.3(RAVER1):c.1157A>G (p.Gln386Arg)	RAVER1 (Q386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539129	NM_133452.3(RAVER1):c.32C>T (p.Pro11Leu)	RAVER1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522282	NM_133452.3(RAVER1):c.424A>T (p.Ser142Cys)	RAVER1 (S142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510016	NM_133452.3(RAVER1):c.1805G>A (p.Arg602Gln)	RAVER1 (R577Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496130	NM_133452.3(RAVER1):c.1838G>T (p.Arg613Leu)	RAVER1 (R613L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486702	NM_133452.3(RAVER1):c.1021G>T (p.Ala341Ser)	RAVER1 (A341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469713	NM_133452.3(RAVER1):c.718C>T (p.Arg240Trp)	RAVER1 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457443	NM_133452.3(RAVER1):c.575A>C (p.Asp192Ala)	RAVER1 (D192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456045	NM_133452.3(RAVER1):c.794C>T (p.Ala265Val)	RAVER1 (A265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403722	NM_133452.3(RAVER1):c.700G>A (p.Asp234Asn)	RAVER1 (D234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403642	NM_133452.3(RAVER1):c.2216T>C (p.Phe739Ser)	RAVER1 (F714S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400253	NM_133452.3(RAVER1):c.1277C>T (p.Pro426Leu)	RAVER1 (P426L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381210	NM_133452.3(RAVER1):c.1021G>A (p.Ala341Thr)	RAVER1 (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377392	NM_133452.3(RAVER1):c.1594G>A (p.Ala532Thr)	RAVER1 (A532T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368425	NM_133452.3(RAVER1):c.319G>A (p.Glu107Lys)	RAVER1 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358086	NM_133452.3(RAVER1):c.986A>G (p.Asn329Ser)	RAVER1 (N329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338314	NM_133452.3(RAVER1):c.28C>T (p.Arg10Trp)	RAVER1 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325313	NM_133452.3(RAVER1):c.284C>G (p.Thr95Arg)	RAVER1 (T95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321815	NM_133452.3(RAVER1):c.1180G>A (p.Gly394Ser)	RAVER1 (G394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285072	NM_133452.3(RAVER1):c.1841A>G (p.His614Arg)	RAVER1 (H589R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284724	NM_133452.3(RAVER1):c.1289C>G (p.Pro430Arg)	RAVER1 (P430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268864	NM_133452.3(RAVER1):c.1863T>A (p.Ser621Arg)	RAVER1 (S596R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261280	NM_133452.3(RAVER1):c.496A>G (p.Ser166Gly)	RAVER1 (S166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258861	NM_133452.3(RAVER1):c.25C>T (p.His9Tyr)	RAVER1 (H9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231027	NM_133452.3(RAVER1):c.1273C>T (p.Pro425Ser)	RAVER1 (P425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230416	NM_133452.3(RAVER1):c.1064C>T (p.Ala355Val)	RAVER1 (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221548	NM_133452.3(RAVER1):c.1394C>A (p.Pro465His)	RAVER1 (P465H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209913	NM_133452.3(RAVER1):c.959G>A (p.Arg320Gln)	RAVER1 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 1245942	NM_133452.3(RAVER1):c.1398C>A (p.Pro466=)	RAVER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 59