EXOG[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 656834	NC_000003.11:g.(?_38518768)_(38674808_?)dup	LOC110121286, LOC110121287 +6 more	Duplication	Brugada syndrome	GUncertain significance
Select item 3091175	NM_005107.4(EXOG):c.43C>G (p.Arg15Gly)	EXOG (R15G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466980	NM_005107.4(EXOG):c.46T>G (p.Phe16Val)	EXOG (F16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405461	NM_005107.4(EXOG):c.49C>G (p.Leu17Val)	EXOG (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285944	NM_005107.4(EXOG):c.68G>C (p.Gly23Ala)	EXOG (G23A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239346	NM_005107.4(EXOG):c.103G>T (p.Ala35Ser)	EXOG (A35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239347	NM_005107.4(EXOG):c.104C>T (p.Ala35Val)	EXOG (A35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788221	NM_005107.4(EXOG):c.164-8A>T	EXOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3091173	NM_005107.4(EXOG):c.182T>A (p.Val61Asp)	EXOG (V61D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392761	NM_005107.4(EXOG):c.259G>A (p.Ala87Thr)	EXOG (A87T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246428	NM_005107.4(EXOG):c.298A>G (p.Lys100Glu)	EXOG (K100E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405648	NM_005107.4(EXOG):c.383A>G (p.Asn128Ser)	EXOG (N128S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091174	NM_005107.4(EXOG):c.430G>A (p.Ala144Thr)	EXOG (A94T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564489	NM_005107.4(EXOG):c.485A>G (p.Asn162Ser)	EXOG (N112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091176	NM_005107.4(EXOG):c.664G>A (p.Val222Met)	EXOG (V222M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091177	NM_005107.4(EXOG):c.688A>G (p.Lys230Glu)	EXOG (K230E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392326	NM_005107.4(EXOG):c.701C>T (p.Ala234Val)	EXOG (A184V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523197	NM_005107.4(EXOG):c.704G>A (p.Arg235His)	EXOG (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516385	NM_005107.4(EXOG):c.710G>A (p.Ser237Asn)	EXOG (S237N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328360	NM_005107.4(EXOG):c.724G>A (p.Glu242Lys)	EXOG (E192K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487363	NM_005107.4(EXOG):c.743C>A (p.Ala248Asp)	EXOG (A198D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335708	NM_005107.4(EXOG):c.792A>T (p.Glu264Asp)	EXOG (E214D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519468	NM_005107.4(EXOG):c.893C>G (p.Thr298Ser)	EXOG (T298S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473759	NM_005107.4(EXOG):c.1037G>A (p.Arg346His)	EXOG (R296H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425601	NC_000003.11:g.(?_38495814)_(38991853_?)dup	ACVR2B, EXOG +3 more	Duplication	Brugada syndrome	GUncertain significance
Select item 2424455	NC_000003.11:g.(?_38180153)_(38618292_?)dup	ACVR2B, EXOG +6 more	Duplication	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1527011	GRCh37/hg19 3p22.2(chr3:38566234-38698720)	EXOG, SCN5A	Copy number gain	not specified	GUncertain significance
Select item 1527010	GRCh37/hg19 3p22.2(chr3:38109534-38669316)	ACAA1, ACVR2B +8 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	ACVR2B, CTDSPL +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814436	GRCh37/hg19 3p22.2(chr3:38393336-38555140)x1	ACVR2B, XYLB +1 more	Copy number loss	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 503576	GRCh37/hg19 3p22.2(chr3:37891706-38877793)x3	VILL, XYLB +13 more	Copy number gain	See cases	GUncertain significance
Select item 463218	NC_000003.11:g.(?_37493846)_(38991873_?)del	ACAA1, ACVR2B +15 more	Deletion	Brugada syndrome	GUncertain significance
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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 42