ACTRT3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	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 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 40977	NM_032487.4(ACTRT3):c.831_*2687del2976	ACTRT3, LOC110806306 +1 more	Deletion	Dyskeratosis congenita, autosomal dominant 1	GPathogenic
Select item 2408473	NM_032487.5(ACTRT3):c.1112G>A (p.Cys371Tyr)	ACTRT3 (C371Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142855	NM_032487.5(ACTRT3):c.1109G>T (p.Arg370Ile)	ACTRT3 (R370I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280326	NM_032487.5(ACTRT3):c.1090C>T (p.Pro364Ser)	ACTRT3 (P364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288476	NM_032487.5(ACTRT3):c.1085T>C (p.Val362Ala)	ACTRT3 (V362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264884	NM_032487.5(ACTRT3):c.985C>G (p.Pro329Ala)	ACTRT3 (P329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142950	NM_032487.5(ACTRT3):c.973C>G (p.Gln325Glu)	ACTRT3 (Q325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237093	NM_032487.5(ACTRT3):c.967G>A (p.Ala323Thr)	ACTRT3 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264895	NM_032487.5(ACTRT3):c.952G>T (p.Ala318Ser)	ACTRT3 (A318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352009	NM_032487.5(ACTRT3):c.925C>T (p.Arg309Trp)	ACTRT3 (R309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613030	NM_032487.5(ACTRT3):c.880A>G (p.Ile294Val)	ACTRT3 (I294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142924	NM_032487.5(ACTRT3):c.851C>T (p.Thr284Ile)	ACTRT3 (T284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142920	NM_032487.5(ACTRT3):c.779C>A (p.Ser260Tyr)	ACTRT3 (S260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239713	NM_032487.5(ACTRT3):c.734T>C (p.Ile245Thr)	ACTRT3 (I245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596929	NM_032487.5(ACTRT3):c.691G>C (p.Asp231His)	ACTRT3 (D231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142907	NM_032487.5(ACTRT3):c.615A>T (p.Arg205Ser)	ACTRT3 (R205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142904	NM_032487.5(ACTRT3):c.598C>T (p.Leu200Phe)	ACTRT3 (L200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142897	NM_032487.5(ACTRT3):c.592A>G (p.Met198Val)	ACTRT3 (M198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282017	NM_032487.5(ACTRT3):c.496G>C (p.Glu166Gln)	ACTRT3 (E166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560783	NM_032487.5(ACTRT3):c.443C>A (p.Thr148Asn)	ACTRT3 (T148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285047	NM_032487.5(ACTRT3):c.323C>T (p.Ala108Val)	ACTRT3 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142880	NM_032487.5(ACTRT3):c.309G>C (p.Leu103Phe)	ACTRT3 (L103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483520	NM_032487.5(ACTRT3):c.307T>G (p.Leu103Val)	ACTRT3 (L103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492731	NM_032487.5(ACTRT3):c.282G>C (p.Lys94Asn)	ACTRT3 (K94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142867	NM_032487.5(ACTRT3):c.245A>T (p.Glu82Val)	ACTRT3, LOC128772257 (E82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213267	NM_032487.5(ACTRT3):c.152T>G (p.Leu51Arg)	ACTRT3, LOC129937872 (L51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457478	NM_032487.5(ACTRT3):c.127C>A (p.Arg43Ser)	ACTRT3, LOC129937872 (R43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654270	NM_032487.5(ACTRT3):c.110G>T (p.Arg37Leu)	ACTRT3, LOC129937872 (R37L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2484804	NM_032487.5(ACTRT3):c.109C>G (p.Arg37Gly)	ACTRT3, LOC129937872 (R37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291153	NM_032487.5(ACTRT3):c.68G>T (p.Gly23Val)	ACTRT3, LOC129937872 (G23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 1808209	GRCh37/hg19 3q26.2(chr3:168718767-169662001)x1	ACTRT3, LRRC31 +6 more	Copy number loss	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 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54