Related gene-specific medical variations for Gene (Select 29119) - ClinVar

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

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341695	NM_178011.5(LRRTM3):c.1278G>T (p.Ala426=)	CTNNA3, LOC101928961 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3292113	NM_178011.5(LRRTM3):c.1181C>T (p.Pro394Leu)	CTNNA3, LOC101928961 +1 more (P394L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292112	NM_178011.5(LRRTM3):c.1114G>T (p.Ala372Ser)	CTNNA3, LOC101928961 +1 more (A372S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292111	NM_178011.5(LRRTM3):c.1640C>T (p.Thr547Met)	CTNNA3, LRRTM3 (T547M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3257069	NM_178011.5(LRRTM3):c.660C>T (p.Leu220=)	CTNNA3, LOC101928961 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3244914	NC_000010.10:g.(?_67680088)_(67726524_?)dup	CTNNA3	Duplication	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3244913	NC_000010.10:g.(?_67829046)_(68381562_?)dup	CTNNA3	Duplication	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3244912	NC_000010.10:g.(?_68040208)_(68139130_?)del	CTNNA3	Deletion	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3244911	NC_000010.10:g.(?_68138890)_(68381562_?)del	CTNNA3	Deletion	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3244910	NC_000010.10:g.(?_68526002)_(68526194_?)del	CTNNA3	Deletion	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3244909	NC_000010.10:g.(?_67748430)_(67748575_?)del	CTNNA3	Deletion	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 3121223	NM_178011.5(LRRTM3):c.23T>C (p.Leu8Pro)	CTNNA3, LOC101928961 +1 more (L8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121222	NM_178011.5(LRRTM3):c.1715G>A (p.Arg572Gln)	CTNNA3, LRRTM3 (R572Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121221	NM_178011.5(LRRTM3):c.1239G>T (p.Glu413Asp)	CTNNA3, LOC101928961 +1 more (E413D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121220	NM_178011.5(LRRTM3):c.1189C>A (p.Pro397Thr)	CTNNA3, LOC101928961 +1 more (P397T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2665008	NM_013266.4:c.1282-780_1531+54046del	CTNNA3	Deletion	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2624133	NM_178011.5(LRRTM3):c.1528G>A (p.Glu510Lys)	CTNNA3, LOC101928961 +1 more (E510K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555973	NM_178011.5(LRRTM3):c.1669C>T (p.His557Tyr)	CTNNA3, LRRTM3 (H557Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549869	NM_178011.5(LRRTM3):c.1658C>T (p.Thr553Met)	CTNNA3, LRRTM3 (T553M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2502216	NM_013266.4(CTNNA3):c.91A>G (p.Ile31Val)	CTNNA3 (I31V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2502207	NM_013266.4(CTNNA3):c.1009_1015del (p.Gln337fs)	CTNNA3 (Q337fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2488267	NM_178011.5(LRRTM3):c.166C>A (p.Pro56Thr)	CTNNA3, LOC101928961 +1 more (P56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464056	NM_178011.5(LRRTM3):c.1201G>T (p.Ala401Ser)	CTNNA3, LOC101928961 +1 more (A401S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2440608	NM_013266.4(CTNNA3):c.1496A>C (p.Asp499Ala)	CTNNA3 (D499A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2440607	NM_013266.4(CTNNA3):c.1321G>A (p.Gly441Arg)	CTNNA3 (G441R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2440606	NM_013266.4(CTNNA3):c.466A>G (p.Arg156Gly)	CTNNA3 (R156G +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2440605	NM_013266.4(CTNNA3):c.1561T>G (p.Cys521Gly)	CTNNA3 (C521G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2381808	NM_178011.5(LRRTM3):c.845G>T (p.Arg282Leu)	CTNNA3, LOC101928961 +1 more (R282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380012	NM_178011.5(LRRTM3):c.436C>T (p.His146Tyr)	CTNNA3, LOC101928961 +1 more (H146Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330443	NM_178011.5(LRRTM3):c.668C>T (p.Ala223Val)	CTNNA3, LOC101928961 +1 more (A223V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306776	NM_178011.5(LRRTM3):c.1273G>A (p.Val425Met)	CTNNA3, LOC101928961 +1 more (V425M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304296	NM_178011.5(LRRTM3):c.1178C>T (p.Pro393Leu)	CTNNA3, LOC101928961 +1 more (P393L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283763	NM_178011.5(LRRTM3):c.383C>T (p.Thr128Ile)	CTNNA3, LOC101928961 +1 more (T128I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238364	NM_178011.5(LRRTM3):c.1187C>T (p.Pro396Leu)	CTNNA3, LOC101928961 +1 more (P396L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219955	NM_178011.5(LRRTM3):c.1250T>C (p.Phe417Ser)	CTNNA3, LOC101928961 +1 more (F417S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809432	GRCh37/hg19 10q21.3(chr10:67374941-68004975)x3	CTNNA3	Copy number gain	not provided	GUncertain significance
Select item 1340824	GRCh37/hg19 10q21.3(chr10:68208022-68265397)x1	CTNNA3	Copy number loss	not provided	GUncertain significance
Select item 1340742	GRCh37/hg19 10q21.3(chr10:68461721-68608284)x1	CTNNA3	Copy number loss	not provided	GUncertain significance
Select item 1339798	GRCh37/hg19 10q21.3(chr10:68295495-68526163)x1	CTNNA3	Copy number loss	not provided	Gnot provided
Select item 1172571	GRCh37/hg19 10q21.3(chr10:66337001-67764000)x3	CTNNA3	Copy number gain	See cases	GUncertain significance
Select item 978102	NM_013266.4:c.1532_1884del	CTNNA3	Deletion	Syncope	GUncertain significance
Select item 815355	GRCh37/hg19 10q21.3(chr10:68208012-68437064)x1	CTNNA3	Copy number loss	not provided	GUncertain significance
Select item 806484	NM_013266.4(CTNNA3):c.969dup (p.His324fs)	CTNNA3 (H336fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 802578	NM_013266.4(CTNNA3):c.1048-151703G>A	CTNNA3, LOC101928961 +1 more (A104V)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 563732	GRCh37/hg19 10q21.3(chr10:67445709-67773309)x3	CTNNA3	Copy number gain	not provided	GUncertain significance
Select item 563718	GRCh37/hg19 10q21.3(chr10:68381284-68607568)x1	CTNNA3	Copy number loss	not provided	GUncertain significance
Select item 563712	GRCh37/hg19 10q21.3(chr10:68350060-68541249)x1	CTNNA3	Copy number loss	not provided	GUncertain significance
Select item 563706	GRCh37/hg19 10q21.3(chr10:68367907-68489915)x1	CTNNA3	Copy number loss	not provided	GUncertain significance
Select item 443468	GRCh37/hg19 10q21.3(chr10:68274043-68564455)x1	CTNNA3	Copy number loss	See cases	GLikely benign
Select item 443204	GRCh37/hg19 10q21.3(chr10:68080930-68405697)x1	CTNNA3	Copy number loss	See cases	GUncertain significance
Select item 442448	GRCh37/hg19 10q21.3(chr10:68329181-68541248)x1	CTNNA3	Copy number loss	See cases	GUncertain significance
Select item 442301	GRCh37/hg19 10q21.3(chr10:68219763-68449956)x1	CTNNA3	Copy number loss	See cases	GLikely benign
Select item 395653	GRCh37/hg19 10q21.3(chr10:68322619-68558600)x1	CTNNA3	Copy number loss	See cases	GLikely benign
Select item 395588	GRCh37/hg19 10q21.3(chr10:68395508-68465910)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 395090	GRCh37/hg19 10q21.3(chr10:68237581-68443835)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 394599	GRCh37/hg19 10q21.3(chr10:68182308-68290259)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 394444	GRCh37/hg19 10q21.3(chr10:68290259-68465910)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 394213	GRCh37/hg19 10q21.3(chr10:68182308-68322619)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 394127	GRCh37/hg19 10q21.3(chr10:68211551-68516519)x1	CTNNA3	Copy number loss	See cases	GLikely benign
Select item 394033	GRCh37/hg19 10q21.3(chr10:68211551-68322619)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 393810	GRCh37/hg19 10q21.3(chr10:68322619-68465910)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 268196	GRCh37/hg19 10q21.3(chr10:68199177-68348456)x1	CTNNA3	Copy number loss	not provided	GLikely benign
Select item 153930	GRCh38/hg38 10q21.3(chr10:66621526-66845254)x1	CTNNA3	Copy number loss	See cases	GUncertain significance
Select item 152648	GRCh38/hg38 10q21.3(chr10:66562861-66599677)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 151773	GRCh38/hg38 10q21.3(chr10:66546165-66750807)x1	CTNNA3	Copy number loss	See cases	GUncertain significance
Select item 151169	GRCh38/hg38 10q21.3(chr10:66557571-66771907)x1	CTNNA3	Copy number loss	See cases	GUncertain significance
Select item 145870	GRCh38/hg38 10q21.3(chr10:66562861-66684077)x1	CTNNA3	Copy number loss	See cases	GLikely benign
Select item 145216	GRCh38/hg38 10q21.3(chr10:66684077-66756761)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 144976	GRCh38/hg38 10q21.3(chr10:66719462-66839674)x1	CTNNA3	Copy number loss	See cases	GBenign
Select item 59399	GRCh38/hg38 10q21.3(chr10:66544198-66756820)x1	CTNNA3	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 70