ClinVar for Gene (Select 127544) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314822	NM_001300826.2(RNF19B):c.1882G>A (p.Gly628Arg)	RNF19B (G628R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3314820	NM_001300826.2(RNF19B):c.1676T>C (p.Ile559Thr)	RNF19B (I559T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314819	NM_001300826.2(RNF19B):c.97C>T (p.Leu33Phe)	RNF19B (L33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314818	NM_001300826.2(RNF19B):c.634G>A (p.Gly212Ser)	LOC129930065, RNF19B (G212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314817	NM_001300826.2(RNF19B):c.2134C>T (p.Leu712Phe)	RNF19B (L712F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3314816	NM_001300826.2(RNF19B):c.1937G>C (p.Cys646Ser)	RNF19B (C646S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3314815	NM_001300826.2(RNF19B):c.310G>A (p.Glu104Lys)	RNF19B (E104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155250	NM_001300826.2(RNF19B):c.800A>G (p.Lys267Arg)	RNF19B (K267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155249	NM_001300826.2(RNF19B):c.779A>C (p.Gln260Pro)	RNF19B (Q260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155248	NM_001300826.2(RNF19B):c.512A>G (p.Asn171Ser)	RNF19B (N171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155247	NM_001300826.2(RNF19B):c.485G>C (p.Ser162Thr)	RNF19B (S162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155246	NM_001300826.2(RNF19B):c.314A>C (p.Glu105Ala)	RNF19B (E105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155245	NM_001300826.2(RNF19B):c.284C>G (p.Ala95Gly)	RNF19B (A95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155244	NM_001300826.2(RNF19B):c.242C>T (p.Pro81Leu)	RNF19B (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155243	NM_001300826.2(RNF19B):c.2111C>A (p.Pro704Gln)	RNF19B (P705Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155241	NM_001300826.2(RNF19B):c.2062C>T (p.Arg688Cys)	RNF19B (R689C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155240	NM_001300826.2(RNF19B):c.1700C>A (p.Ala567Asp)	RNF19B (A568D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155239	NM_001300826.2(RNF19B):c.140G>A (p.Arg47His)	RNF19B (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155238	NM_001300826.2(RNF19B):c.1182A>C (p.Lys394Asn)	RNF19B (K394N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155237	NM_001300826.2(RNF19B):c.1055C>T (p.Thr352Met)	RNF19B (T353M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685410	GRCh37/hg19 1p35.1(chr1:33099109-33528691)x1	HPCA, AK2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2609409	NM_001300826.2(RNF19B):c.142G>T (p.Ala48Ser)	RNF19B (A48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606449	NM_001300826.2(RNF19B):c.812G>T (p.Gly271Val)	RNF19B (G271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590666	NM_001300826.2(RNF19B):c.167C>T (p.Pro56Leu)	RNF19B (P56L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2555191	NM_001300826.2(RNF19B):c.146G>A (p.Arg49Gln)	RNF19B (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548058	NM_001300826.2(RNF19B):c.1885G>A (p.Gly629Ser)	RNF19B (G629S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2536658	NM_001300826.2(RNF19B):c.382C>T (p.Pro128Ser)	RNF19B (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529047	NM_001300826.2(RNF19B):c.430G>C (p.Asp144His)	RNF19B (D144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467441	NM_001300826.2(RNF19B):c.247G>A (p.Glu83Lys)	RNF19B (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462775	NM_001300826.2(RNF19B):c.817A>G (p.Ser273Gly)	RNF19B (S273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459504	NM_001300826.2(RNF19B):c.1820C>T (p.Thr607Met)	RNF19B (T607M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2404461	NM_001300826.2(RNF19B):c.1576G>A (p.Gly526Ser)	RNF19B (G527S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392942	NM_001300826.2(RNF19B):c.1565C>T (p.Thr522Met)	RNF19B (T522M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340778	NM_001300826.2(RNF19B):c.1792C>T (p.His598Tyr)	RNF19B (H598Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308543	NM_001300826.2(RNF19B):c.733T>C (p.Trp245Arg)	RNF19B (W245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286503	NM_001300826.2(RNF19B):c.1476G>C (p.Leu492Phe)	RNF19B (L492F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285494	NM_001300826.2(RNF19B):c.1996C>G (p.Leu666Val)	RNF19B (L667V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283113	NM_001300826.2(RNF19B):c.211G>A (p.Ala71Thr)	RNF19B (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277225	NM_001300826.2(RNF19B):c.212C>T (p.Ala71Val)	RNF19B (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271924	NM_001300826.2(RNF19B):c.464G>A (p.Ser155Asn)	RNF19B (S155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261917	NM_001300826.2(RNF19B):c.251C>G (p.Pro84Arg)	RNF19B (P84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251798	NM_001300826.2(RNF19B):c.1904C>A (p.Pro635His)	RNF19B (P635H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2246221	NM_001300826.2(RNF19B):c.788G>A (p.Arg263Gln)	RNF19B (R263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245745	NM_001300826.2(RNF19B):c.305A>G (p.Asp102Gly)	RNF19B (D102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243154	NM_001300826.2(RNF19B):c.2149G>A (p.Glu717Lys)	RNF19B (E718K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2203864	NM_001300826.2(RNF19B):c.346G>A (p.Glu116Lys)	RNF19B (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
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 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57