ClinVar for Gene (Select 151790) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332859	NM_001366157.1(WDR49):c.2096C>T (p.Pro699Leu)	WDR49 (P347L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332858	NM_001366157.1(WDR49):c.2771A>G (p.Tyr924Cys)	WDR49 (Y572C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332857	NM_001366157.1(WDR49):c.2833A>C (p.Met945Leu)	WDR49 (M934L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190097	NM_001366157.1(WDR49):c.2011G>A (p.Val671Ile)	WDR49 (V660I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190096	NM_001366157.1(WDR49):c.1111C>T (p.Arg371Trp)	WDR49 (R371W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190095	NM_001366157.1(WDR49):c.1918T>C (p.Cys640Arg)	WDR49 (C629R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190094	NM_001366157.1(WDR49):c.1655G>T (p.Ser552Ile)	WDR49 (S211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190093	NM_001366157.1(WDR49):c.1541C>T (p.Ser514Phe)	WDR49 (S514F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190092	NM_001366157.1(WDR49):c.1058A>G (p.Asn353Ser)	WDR49 (N12S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190091	NM_001366157.1(WDR49):c.1051C>T (p.Arg351Cys)	WDR49 (R351C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190090	NM_001366157.1(WDR49):c.1290G>C (p.Trp430Cys)	WDR49 (W430C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190089	NM_001366157.1(WDR49):c.3044T>C (p.Val1015Ala)	WDR49 (V1004A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190088	NM_001366157.1(WDR49):c.2992G>C (p.Glu998Gln)	WDR49 (E646Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190086	NM_001366157.1(WDR49):c.2488A>G (p.Ile830Val)	WDR49 (I478V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190085	NM_001366157.1(WDR49):c.2486G>A (p.Arg829Gln)	WDR49 (R829Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190084	NM_001366157.1(WDR49):c.2447C>T (p.Ala816Val)	WDR49 (A816V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190083	NM_001366157.1(WDR49):c.2413T>A (p.Cys805Ser)	WDR49 (C453S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	BCHE, GOLIM4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2685096	GRCh37/hg19 3q26.1(chr3:167343287-167470158)x1	PDCD10, SERPINI1 +1 more	Copy number loss	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654266	NM_001366157.1(WDR49):c.339G>A (p.Glu113=)	WDR49	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2613000	NM_001366157.1(WDR49):c.2263T>C (p.Phe755Leu)	WDR49 (F403L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597871	NM_001366157.1(WDR49):c.3017C>T (p.Pro1006Leu)	WDR49 (P1006L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594012	NM_001366157.1(WDR49):c.1610G>A (p.Ser537Asn)	WDR49 (S537N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592322	NM_001366157.1(WDR49):c.1577A>C (p.Gln526Pro)	WDR49 (Q185P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543373	NM_001366157.1(WDR49):c.1147A>G (p.Lys383Glu)	WDR49 (K42E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538015	NM_001366157.1(WDR49):c.1660G>A (p.Asp554Asn)	WDR49 (D554N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529442	NM_001366157.1(WDR49):c.3072G>C (p.Lys1024Asn)	WDR49 (K1013N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518278	NM_001366157.1(WDR49):c.2083G>T (p.Gly695Trp)	WDR49 (G343W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481256	NM_001366157.1(WDR49):c.1828A>G (p.Ile610Val)	WDR49 (I258V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480197	NM_001366157.1(WDR49):c.3121A>T (p.Ser1041Cys)	WDR49 (S689C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478013	NM_001366157.1(WDR49):c.2551T>C (p.Cys851Arg)	WDR49 (C840R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476776	NM_001366157.1(WDR49):c.2098T>C (p.Ser700Pro)	WDR49 (S689P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404331	NM_001366157.1(WDR49):c.2249C>A (p.Ser750Tyr)	WDR49 (S750Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398420	NM_001366157.1(WDR49):c.2795T>C (p.Ile932Thr)	WDR49 (I921T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383550	NM_001366157.1(WDR49):c.2126C>T (p.Thr709Met)	WDR49 (T357M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382121	NM_001366157.1(WDR49):c.1594G>A (p.Gly532Ser)	WDR49 (G532S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381469	NM_001366157.1(WDR49):c.2409G>T (p.Glu803Asp)	WDR49 (E792D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368131	NM_001366157.1(WDR49):c.2662G>A (p.Val888Met)	WDR49 (V536M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351211	NM_001366157.1(WDR49):c.1781G>C (p.Gly594Ala)	WDR49 (G594A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348851	NM_001366157.1(WDR49):c.1252C>A (p.Leu418Ile)	WDR49 (L418I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348365	NM_001366157.1(WDR49):c.1546T>C (p.Trp516Arg)	WDR49 (W516R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343771	NM_001366157.1(WDR49):c.2726C>G (p.Thr909Arg)	WDR49 (T557R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341917	NM_001366157.1(WDR49):c.2894G>C (p.Arg965Thr)	WDR49 (R613T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337273	NM_001366157.1(WDR49):c.1825G>A (p.Ala609Thr)	WDR49 (A257T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327959	NM_001366157.1(WDR49):c.2992G>A (p.Glu998Lys)	WDR49 (E987K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317656	NM_001366157.1(WDR49):c.2871A>G (p.Ile957Met)	WDR49 (I605M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311636	NM_001366157.1(WDR49):c.3029A>G (p.Lys1010Arg)	WDR49 (K1010R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300724	NM_001366157.1(WDR49):c.2279A>G (p.Lys760Arg)	WDR49 (K408R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300655	NM_001366157.1(WDR49):c.2173A>G (p.Met725Val)	WDR49 (M373V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246565	NM_001366157.1(WDR49):c.2339C>G (p.Thr780Ser)	WDR49 (T780S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241509	NM_001366157.1(WDR49):c.1882T>C (p.Trp628Arg)	WDR49 (W617R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237067	NM_001366157.1(WDR49):c.1969G>C (p.Glu657Gln)	WDR49 (E646Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231705	NM_001366157.1(WDR49):c.2826T>A (p.Ser942Arg)	WDR49 (S590R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214560	NM_001366157.1(WDR49):c.2557A>G (p.Ile853Val)	WDR49 (I853V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213679	NM_001366157.1(WDR49):c.3007C>A (p.Leu1003Met)	WDR49 (L651M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212825	NM_001366157.1(WDR49):c.2150A>G (p.Asp717Gly)	WDR49 (D706G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210237	NM_001366157.1(WDR49):c.1639C>T (p.Arg547Trp)	WDR49 (R206W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206561	NM_001366157.1(WDR49):c.2753A>G (p.Asn918Ser)	WDR49 (N566S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204577	NM_001366157.1(WDR49):c.2135G>A (p.Arg712His)	WDR49 (R701H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809189	GRCh37/hg19 3q26.1(chr3:167237803-167447300)x3	PDCD10, WDR49	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340184	GRCh37/hg19 3q26.1(chr3:167247577-167470158)x3	PDCD10, SERPINI1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980547	GRCh37/hg19 3q26.1(chr3:166831213-167390123)x1	SERPINI2, ZBBX +1 more	Copy number loss	not provided	GUncertain significance
Select item 814495	GRCh37/hg19 3q26.1(chr3:167187409-167318904)x1	WDR49, SERPINI2	Copy number loss	not provided	GUncertain significance
Select item 686844	GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1	GOLIM4, PDCD10 +4 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 161841	NM_001366157.1(WDR49):c.2465C>A (p.Ser822Ter)	WDR49 (S470* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150634	GRCh38/hg38 3q26.1(chr3:167281403-167554689)x1	LINC01327, SERPINI2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 150113	GRCh38/hg38 3q26.1(chr3:167618839-167688627)x1	PDCD10, WDR49	Copy number loss	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 86