SEC13[gene] - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	MTMR14, OGG1 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	LOC129936144, LOC129936145 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	LOC129936140, LOC129936141 +58 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 155031	GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1	ATP2B2, ATP2B2-IT1 +36 more	Copy number loss	See cases	GUncertain significance
Select item 2398613	NM_183352.3(SEC13):c.928G>A (p.Val310Ile)	SEC13 (V296I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653520	NM_183352.3(SEC13):c.927C>T (p.Ser309=)	SEC13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398438	NM_183352.3(SEC13):c.907G>A (p.Val303Ile)	SEC13 (V289I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322662	NM_183352.3(SEC13):c.895T>G (p.Cys299Gly)	SEC13 (C345G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358996	NM_183352.3(SEC13):c.884G>A (p.Gly295Glu)	SEC13 (G341E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352815	NM_183352.3(SEC13):c.775C>G (p.His259Asp)	SEC13 (H245D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313565	NM_183352.3(SEC13):c.755C>T (p.Thr252Met)	SEC13 (T252M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241451	NM_183352.3(SEC13):c.723C>G (p.Phe241Leu)	SEC13 (F241L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350900	NM_183352.3(SEC13):c.716G>C (p.Arg239Pro)	SEC13 (R239P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376074	NM_183352.3(SEC13):c.694G>A (p.Ala232Thr)	SEC13 (A278T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324328	NM_183352.3(SEC13):c.689C>G (p.Thr230Ser)	SEC13 (T233S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465009	NM_183352.3(SEC13):c.647G>A (p.Arg216Gln)	SEC13 (R219Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285964	NM_183352.3(SEC13):c.631C>T (p.His211Tyr)	SEC13 (H214Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224209	NM_183352.3(SEC13):c.568C>T (p.Leu190Phe)	SEC13 (L193F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546597	NM_183352.3(SEC13):c.547G>A (p.Ala183Thr)	SEC13 (A183T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347751	NM_183352.3(SEC13):c.539A>G (p.Lys180Arg)	SEC13 (K166R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484785	NM_183352.3(SEC13):c.527C>A (p.Pro176His)	SEC13 (P179H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613960	NM_183352.3(SEC13):c.481G>A (p.Ala161Thr)	SEC13 (A161T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209058	NM_183352.3(SEC13):c.461A>G (p.Asn154Ser)	SEC13 (N157S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210418	NM_183352.3(SEC13):c.335C>T (p.Ala112Val)	SEC13 (A112V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276485	NM_183352.3(SEC13):c.307G>A (p.Asp103Asn)	SEC13 (D106N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305653	NM_183352.3(SEC13):c.254T>C (p.Ile85Thr)	SEC13 (I131T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252703	NM_183352.3(SEC13):c.145C>T (p.Leu49Phe)	SEC13 (L52F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211556	NM_183352.3(SEC13):c.113A>G (p.Lys38Arg)	SEC13 (K84R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363534	NM_183352.3(SEC13):c.80G>A (p.Arg27His)	SEC13 (R30H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491497	NM_183352.3(SEC13):c.74G>C (p.Gly25Ala)	SEC13 (G28A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217040	NM_183352.3(SEC13):c.55G>A (p.Ala19Thr)	SEC13 (A19T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 2424613	NC_000003.11:g.(?_10094051)_(11078652_?)del	ATP2B2, BRK1 +10 more	Deletion	Myoclonic-astatic epilepsy	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807689	GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1	ATG7, ATP2B2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 686271	GRCh37/hg19 3p25.3(chr3:10325353-10509129)x3	ATP2B2, GHRL +2 more	Copy number gain	not provided	GUncertain significance
Select item 635955	Single allele	BRPF1, IL17RE +33 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	FANCD2OS, FBLN2 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	ANKRD28, ARL8B +145 more	Copy number gain	See cases	GPathogenic
Select item 253614	GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	ARPC4, ARPC4-TTLL3 +39 more	Copy number loss	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: 68