EPB41L2[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 147459	GRCh38/hg38 6q23.1(chr6:130169549-130850911)x3	EPB41L2, LOC121132707 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2490668	NM_001431.4(EPB41L2):c.2960C>T (p.Ser987Leu)	EPB41L2 (S917L +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089396	NM_001431.4(EPB41L2):c.2904T>G (p.His968Gln)	EPB41L2, LOC121740666 (H898Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089395	NM_001431.4(EPB41L2):c.2878A>G (p.Ile960Val)	EPB41L2, LOC121740666 (I807V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523000	NM_001431.4(EPB41L2):c.2858G>T (p.Arg953Ile)	EPB41L2, LOC121740666 (R695I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377559	NM_001431.4(EPB41L2):c.2843G>A (p.Gly948Glu)	EPB41L2, LOC121740666 (G476E +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377558	NM_001431.4(EPB41L2):c.2842G>A (p.Gly948Arg)	EPB41L2, LOC121740666 (G967R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089394	NM_001431.4(EPB41L2):c.2807C>T (p.Thr936Met)	EPB41L2 (T678M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621970	NM_001431.4(EPB41L2):c.2767C>G (p.Leu923Val)	EPB41L2 (L451V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210523	NM_001431.4(EPB41L2):c.2740G>A (p.Gly914Arg)	EPB41L2 (G442R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275753	NM_001431.4(EPB41L2):c.2597G>T (p.Cys866Phe)	EPB41L2 (C817F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785179	NM_001431.4(EPB41L2):c.2550C>T (p.Asn850=)	EPB41L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2271350	NM_001431.4(EPB41L2):c.2534A>T (p.Glu845Val)	EPB41L2 (E775V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264164	NM_001431.4(EPB41L2):c.2497G>A (p.Ala833Thr)	EPB41L2 (A833T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089393	NM_001431.4(EPB41L2):c.2490C>G (p.His830Gln)	EPB41L2 (H358Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250600	NM_001431.4(EPB41L2):c.2488C>T (p.His830Tyr)	EPB41L2 (H781Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089391	NM_001431.4(EPB41L2):c.2473G>A (p.Gly825Arg)	EPB41L2 (G776R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387147	NM_001431.4(EPB41L2):c.2450A>G (p.Asn817Ser)	EPB41L2 (N345S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387146	NM_001431.4(EPB41L2):c.2449A>G (p.Asn817Asp)	EPB41L2 (N747D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463030	NM_001431.4(EPB41L2):c.2386G>A (p.Glu796Lys)	EPB41L2 (E747K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470903	NM_001431.4(EPB41L2):c.2345G>A (p.Arg782His)	EPB41L2 (R712H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089390	NM_001431.4(EPB41L2):c.2344C>T (p.Arg782Cys)	EPB41L2 (R310C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496318	NM_001431.4(EPB41L2):c.2290G>A (p.Glu764Lys)	EPB41L2 (E816K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532161	NM_001431.4(EPB41L2):c.2282G>A (p.Arg761Gln)	EPB41L2 (R709Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089389	NM_001431.4(EPB41L2):c.2257G>A (p.Val753Met)	EPB41L2 (V704M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347285	NM_001431.4(EPB41L2):c.2239G>C (p.Glu747Gln)	EPB41L2 (E275Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089388	NM_001431.4(EPB41L2):c.2230A>G (p.Ser744Gly)	EPB41L2 (S796G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089387	NM_001431.4(EPB41L2):c.2228G>T (p.Ser743Ile)	EPB41L2 (S694I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089386	NM_001431.4(EPB41L2):c.2227A>T (p.Ser743Cys)	EPB41L2 (S691C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089385	NM_001431.4(EPB41L2):c.2170C>T (p.Arg724Cys)	EPB41L2 (R654C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089384	NM_001431.4(EPB41L2):c.2125A>G (p.Met709Val)	EPB41L2 (M237V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089383	NM_001431.4(EPB41L2):c.2084G>A (p.Arg695Gln)	EPB41L2 (R643Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3275754	NM_001431.4(EPB41L2):c.2071G>A (p.Glu691Lys)	EPB41L2 (E639K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275752	NM_001431.4(EPB41L2):c.2051A>G (p.His684Arg)	EPB41L2 (H212R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089382	NM_001431.4(EPB41L2):c.2050C>T (p.His684Tyr)	EPB41L2 (H684Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331457	NM_001431.4(EPB41L2):c.2044A>G (p.Ser682Gly)	EPB41L2 (S630G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354864	NM_001431.4(EPB41L2):c.1942A>G (p.Ile648Val)	EPB41L2 (I648V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262789	NM_001431.4(EPB41L2):c.1904A>G (p.Asp635Gly)	EPB41L2 (D635G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364383	NM_001431.4(EPB41L2):c.1847G>C (p.Arg616Thr)	EPB41L2 (R616T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305307	NM_001431.4(EPB41L2):c.1812T>A (p.His604Gln)	EPB41L2 (H604Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345201	NM_001431.4(EPB41L2):c.1777A>G (p.Arg593Gly)	EPB41L2 (R191G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381199	NM_001431.4(EPB41L2):c.1759G>A (p.Val587Ile)	EPB41L2 (V587I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529596	NM_001431.4(EPB41L2):c.1741C>T (p.Leu581Phe)	EPB41L2 (L581F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347911	NM_001431.4(EPB41L2):c.1726G>A (p.Ala576Thr)	EPB41L2 (A576T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776154	NM_001431.4(EPB41L2):c.1664C>T (p.Pro555Leu)	EPB41L2 (P555L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2623527	NM_001431.4(EPB41L2):c.1576C>T (p.Arg526Cys)	EPB41L2 (R526C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501745	NM_001431.4(EPB41L2):c.1421_1422del (p.Lys474fs)	EPB41L2 (K474fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2323013	NM_001431.4(EPB41L2):c.1355G>A (p.Arg452His)	EPB41L2 (R50H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089379	NM_001431.4(EPB41L2):c.1259A>G (p.Lys420Arg)	EPB41L2 (K18R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089378	NM_001431.4(EPB41L2):c.1209G>A (p.Met403Ile)	EPB41L2 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399983	NM_001431.4(EPB41L2):c.1178A>G (p.Gln393Arg)	EPB41L2 (Q393R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211514	NM_001431.4(EPB41L2):c.1018A>G (p.Thr340Ala)	EPB41L2 (T340A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260086	NM_001431.4(EPB41L2):c.1010G>A (p.Gly337Glu)	EPB41L2 (G337E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325633	NM_001431.4(EPB41L2):c.964G>T (p.Ala322Ser)	EPB41L2 (A322S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318764	NM_001431.4(EPB41L2):c.905C>T (p.Ser302Phe)	EPB41L2 (S302F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089401	NM_001431.4(EPB41L2):c.833A>G (p.Glu278Gly)	EPB41L2 (E278G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272853	NM_001431.4(EPB41L2):c.737A>G (p.Lys246Arg)	EPB41L2 (K246R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460531	NM_001431.4(EPB41L2):c.718G>C (p.Gly240Arg)	EPB41L2 (G240R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216134	NM_001431.4(EPB41L2):c.685G>A (p.Glu229Lys)	EPB41L2 (E229K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089400	NM_001431.4(EPB41L2):c.656A>G (p.Gln219Arg)	EPB41L2 (Q219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275751	NM_001431.4(EPB41L2):c.602A>C (p.Glu201Ala)	EPB41L2 (E201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295558	NM_001431.4(EPB41L2):c.558A>C (p.Glu186Asp)	EPB41L2 (E186D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221017	NM_001431.4(EPB41L2):c.513G>T (p.Lys171Asn)	EPB41L2 (K171N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2798118	NM_001431.4(EPB41L2):c.493-11_493-10del	EPB41L2	Deletion (intron variant)	not provided	GBenign
Select item 2798119	NM_001431.4(EPB41L2):c.493-17_493-16insC	EPB41L2	Insertion (intron variant)	not provided	GLikely benign
Select item 2334959	NM_001431.4(EPB41L2):c.446C>T (p.Ser149Leu)	EPB41L2 (S149L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236787	NM_001431.4(EPB41L2):c.440A>G (p.Lys147Arg)	EPB41L2 (K147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089398	NM_001431.4(EPB41L2):c.421G>C (p.Val141Leu)	EPB41L2 (V141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275756	NM_001431.4(EPB41L2):c.417T>G (p.Ile139Met)	EPB41L2 (I139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609074	NM_001431.4(EPB41L2):c.316G>A (p.Val106Ile)	EPB41L2 (V106I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275755	NM_001431.4(EPB41L2):c.289G>A (p.Gly97Arg)	EPB41L2 (G97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481558	NM_001431.4(EPB41L2):c.176T>C (p.Leu59Pro)	EPB41L2 (L59P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3089380	NM_001431.4(EPB41L2):c.155C>T (p.Ala52Val)	EPB41L2 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089397	NM_001431.4(EPB41L2):c.37A>G (p.Lys13Glu)	EPB41L2 (K13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3062941	GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3	AKAP7, ARG1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1527290	GRCh37/hg19 6q23.1-23.2(chr6:130949600-131924268)	AKAP7, ARG1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic

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Items: 91