EFR3B[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 3274715	NM_014971.2(EFR3B):c.82G>A (p.Glu28Lys)	EFR3B (E28K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3087593	NM_014971.2(EFR3B):c.125A>G (p.Tyr42Cys)	EFR3B (Y42C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264144	NM_014971.2(EFR3B):c.163G>A (p.Ala55Thr)	EFR3B (A20T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335448	NM_014971.2(EFR3B):c.177G>C (p.Glu59Asp)	EFR3B (E24D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332876	NM_014971.2(EFR3B):c.187C>T (p.Arg63Cys)	EFR3B (R28C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154924	GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3	DNMT3A, DTNB +56 more	Copy number gain	See cases	GUncertain significance
Select item 2515813	NM_014971.2(EFR3B):c.385G>A (p.Glu129Lys)	EFR3B (E94K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465829	NM_014971.2(EFR3B):c.455C>T (p.Ser152Leu)	EFR3B (S152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253884	NM_014971.2(EFR3B):c.482C>A (p.Thr161Asn)	EFR3B (T126N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203949	NM_014971.2(EFR3B):c.769A>G (p.Ile257Val)	EFR3B (I257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087600	NM_014971.2(EFR3B):c.781A>T (p.Asn261Tyr)	EFR3B (N261Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212484	NM_014971.2(EFR3B):c.871A>C (p.Ile291Leu)	EFR3B, LOC122756672 (I256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274712	NM_014971.2(EFR3B):c.937G>A (p.Val313Met)	EFR3B, LOC122756672 (V313M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251874	NM_014971.2(EFR3B):c.1057G>T (p.Gly353Trp)	EFR3B (G353W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329104	NM_014971.2(EFR3B):c.1090A>G (p.Lys364Glu)	EFR3B (K329E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370436	NM_014971.2(EFR3B):c.1237G>A (p.Ala413Thr)	EFR3B (A413T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308637	NM_014971.2(EFR3B):c.1258G>A (p.Gly420Arg)	EFR3B (G420R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302522	NM_014971.2(EFR3B):c.1445T>C (p.Ile482Thr)	EFR3B (I447T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087594	NM_014971.2(EFR3B):c.1543A>G (p.Thr515Ala)	EFR3B (T515A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229451	NM_014971.2(EFR3B):c.1546G>A (p.Val516Ile)	EFR3B (V481I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087595	NM_014971.2(EFR3B):c.1577A>G (p.Tyr526Cys)	EFR3B (Y491C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234666	NM_014971.2(EFR3B):c.1634C>T (p.Ala545Val)	EFR3B (A510V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474753	NM_014971.2(EFR3B):c.1702C>T (p.Arg568Cys)	EFR3B (R533C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273283	NM_014971.2(EFR3B):c.1708G>C (p.Val570Leu)	EFR3B (V570L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323486	NM_014971.2(EFR3B):c.1715C>T (p.Ala572Val)	EFR3B (A572V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256134	NM_014971.2(EFR3B):c.1725C>A (p.Asp575Glu)	EFR3B (D540E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087596	NM_014971.2(EFR3B):c.1852G>A (p.Glu618Lys)	EFR3B (E618K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274713	NM_014971.2(EFR3B):c.1868G>A (p.Arg623Lys)	EFR3B (R623K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405848	NM_014971.2(EFR3B):c.1986A>T (p.Glu662Asp)	EFR3B (E662D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459617	NM_014971.2(EFR3B):c.2059C>T (p.Arg687Cys)	EFR3B (R652C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394764	NM_014971.2(EFR3B):c.2060G>A (p.Arg687His)	EFR3B (R687H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274711	NM_014971.2(EFR3B):c.2093T>C (p.Ile698Thr)	EFR3B (I698T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274716	NM_014971.2(EFR3B):c.2138A>G (p.Glu713Gly)	EFR3B (E678G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087597	NM_014971.2(EFR3B):c.2144G>A (p.Arg715Gln)	EFR3B (R680Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087599	NM_014971.2(EFR3B):c.2192T>C (p.Val731Ala)	EFR3B (V696A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323205	NM_014971.2(EFR3B):c.2192T>G (p.Val731Gly)	EFR3B (V731G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588565	NM_014971.2(EFR3B):c.2200G>A (p.Val734Ile)	EFR3B (V699I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323344	NM_014971.2(EFR3B):c.2227C>T (p.Arg743Trp)	EFR3B (R708W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367423	NM_014971.2(EFR3B):c.2284C>T (p.His762Tyr)	EFR3B (H727Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238982	NM_014971.2(EFR3B):c.2297G>A (p.Arg766Gln)	EFR3B (R731Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349822	NM_014971.2(EFR3B):c.2381C>T (p.Ala794Val)	EFR3B (A794V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389977	NM_014971.2(EFR3B):c.2437G>A (p.Asp813Asn)	EFR3B (D813N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247408	NC_000002.11:g.(?_24443763)_(26068452_?)dup	NCOA1, POMC +9 more	Duplication	Tatton-Brown-Rahman overgrowth syndrome	GUncertain significance
Select item 3247406	NC_000002.11:g.(?_24443763)_(25536853_?)del	ADCY3, CENPO +7 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2498866	GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1	ADCY3, ASXL2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2427540	NC_000002.11:g.(?_24443763)_(26029226_?)del	ADCY3, ASXL2 +9 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808132	GRCh37/hg19 2p23.3(chr2:25163058-25461523)x3	DNAJC27, DNMT3A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1701798	GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1	NCOA1, POMC +13 more	Copy number loss	Tatton-Brown-Rahman overgrowth syndrome +1 more	Gnot provided
Select item 1695897	GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1	ADCY3, CENPO +6 more	Copy number loss	not provided	Gnot provided
Select item 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 1340016	GRCh37/hg19 2p23.3(chr2:25380572-25524722)x1	DNMT3A, EFR3B +1 more	Copy number loss	not provided	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814224	GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1	ASXL2, ADCY3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687958	GRCh37/hg19 2p23.3(chr2:25286991-25395829)x3	EFR3B, POMC	Copy number gain	not provided	GUncertain significance
Select item 562654	GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3	DNMT3A, ADCY3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 559502	GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3	CENPO, PTRHD1 +7 more	Copy number gain	Fetal growth restriction +4 more	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441048	GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1	CENPO, ADCY3 +16 more	Copy number loss	not provided	Gnot provided

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Items: 74