RAVER2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +275 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +252 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 more	Copy number gain	See cases	GPathogenic
Select item 3152004	NM_001366165.2(RAVER2):c.7G>A (p.Ala3Thr)	RAVER2 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152001	NM_001366165.2(RAVER2):c.28G>T (p.Gly10Cys)	RAVER2 (G10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350302	NM_001366165.2(RAVER2):c.34G>C (p.Gly12Arg)	RAVER2 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257392	NM_001366165.2(RAVER2):c.34G>A (p.Gly12Arg)	RAVER2 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402407	NM_001366165.2(RAVER2):c.97C>G (p.Pro33Ala)	RAVER2 (P33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396320	NM_001366165.2(RAVER2):c.154G>C (p.Glu52Gln)	RAVER2 (E52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204050	NM_001366165.2(RAVER2):c.181A>T (p.Met61Leu)	RAVER2 (M61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217776	NM_001366165.2(RAVER2):c.236A>G (p.Asp79Gly)	RAVER2 (D79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340037	NM_001366165.2(RAVER2):c.272A>G (p.Asp91Gly)	RAVER2 (D91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471108	NM_001366165.2(RAVER2):c.350A>G (p.Gln117Arg)	RAVER2 (Q117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394904	NM_001366165.2(RAVER2):c.355G>T (p.Ala119Ser)	RAVER2 (A119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531127	NM_001366165.2(RAVER2):c.423T>G (p.Asp141Glu)	RAVER2 (D141E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598409	NM_001366165.2(RAVER2):c.445G>C (p.Val149Leu)	RAVER2 (V149L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315476	NM_001366165.2(RAVER2):c.445G>A (p.Val149Met)	RAVER2 (V149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152002	NM_001366165.2(RAVER2):c.494A>G (p.Tyr165Cys)	RAVER2 (Y165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152003	NM_001366165.2(RAVER2):c.532G>C (p.Val178Leu)	RAVER2 (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616388	NM_001366165.2(RAVER2):c.644C>T (p.Ala215Val)	RAVER2 (A215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313011	NM_001366165.2(RAVER2):c.673T>G (p.Ser225Ala)	RAVER2 (S225A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316000	NM_001366165.2(RAVER2):c.879C>A (p.Asp293Glu)	RAVER2 (D293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152005	NM_001366165.2(RAVER2):c.961A>G (p.Ile321Val)	RAVER2 (I321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593187	NM_001366165.2(RAVER2):c.965C>T (p.Ala322Val)	RAVER2 (A322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152006	NM_001366165.2(RAVER2):c.989A>G (p.Asn330Ser)	RAVER2 (N330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258418	NM_001366165.2(RAVER2):c.1391A>G (p.His464Arg)	RAVER2 (H464R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151998	NM_001366165.2(RAVER2):c.1451G>C (p.Gly484Ala)	RAVER2 (G484A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249959	NM_001366165.2(RAVER2):c.1455G>A (p.Met485Ile)	RAVER2 (M485I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303670	NM_001366165.2(RAVER2):c.1549A>G (p.Met517Val)	RAVER2 (M504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351832	NM_001366165.2(RAVER2):c.1600A>G (p.Asn534Asp)	RAVER2 (N521D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533668	NM_001366165.2(RAVER2):c.1710G>C (p.Leu570Phe)	RAVER2 (L570F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402079	NM_001366165.2(RAVER2):c.1732C>T (p.Arg578Trp)	RAVER2 (R565W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336794	NM_001366165.2(RAVER2):c.1733G>A (p.Arg578Gln)	RAVER2 (R578Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313012	NM_001366165.2(RAVER2):c.1741A>G (p.Lys581Glu)	RAVER2 (K568E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371690	NM_001366165.2(RAVER2):c.1820A>G (p.Lys607Arg)	RAVER2 (K594R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237293	NM_001366165.2(RAVER2):c.1846G>T (p.Asp616Tyr)	RAVER2 (D616Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342316	NM_001366165.2(RAVER2):c.1865G>A (p.Ser622Asn)	RAVER2 (S609N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152000	NM_001366165.2(RAVER2):c.1879G>A (p.Ala627Thr)	RAVER2 (A627T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603073	NM_001366165.2(RAVER2):c.1928A>G (p.Gln643Arg)	RAVER2 (Q643R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565104	GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	CACHD1, ANGPTL3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	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 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 61