ACTRT3[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 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	LOC129938326, LOC129938327 +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	LOC129938320, LOC129938321 +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 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 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	AADAC, AADACL2 +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	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 52