BAIAP2L2[gene] - ClinVar

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

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 2206880	NM_025045.6(BAIAP2L2):c.1562A>G (p.Asn521Ser)	BAIAP2L2 (N521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132882	NM_025045.6(BAIAP2L2):c.1550C>G (p.Pro517Arg)	BAIAP2L2 (P517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132881	NM_025045.6(BAIAP2L2):c.1499A>G (p.Gln500Arg)	BAIAP2L2 (Q500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132880	NM_025045.6(BAIAP2L2):c.1427G>A (p.Arg476His)	BAIAP2L2 (R476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132879	NM_025045.6(BAIAP2L2):c.1415C>G (p.Pro472Arg)	BAIAP2L2 (P472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598769	NM_025045.6(BAIAP2L2):c.1396C>T (p.Pro466Ser)	BAIAP2L2 (P466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653134	NM_025045.6(BAIAP2L2):c.1389C>T (p.Ala463=)	BAIAP2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132878	NM_025045.6(BAIAP2L2):c.1385G>A (p.Arg462His)	BAIAP2L2 (R462H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132877	NM_025045.6(BAIAP2L2):c.1384C>T (p.Arg462Cys)	BAIAP2L2 (R462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522191	NM_025045.6(BAIAP2L2):c.1361G>A (p.Arg454His)	BAIAP2L2 (R454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132875	NM_025045.6(BAIAP2L2):c.1360C>T (p.Arg454Cys)	BAIAP2L2 (R454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408433	NM_025045.6(BAIAP2L2):c.1354C>T (p.Arg452Cys)	BAIAP2L2 (R452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274092	NM_025045.6(BAIAP2L2):c.1333G>A (p.Glu445Lys)	BAIAP2L2 (E445K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347309	NM_025045.6(BAIAP2L2):c.1310C>T (p.Pro437Leu)	BAIAP2L2 (P437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132874	NM_025045.6(BAIAP2L2):c.1267C>A (p.Pro423Thr)	BAIAP2L2 (P423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234138	NM_025045.6(BAIAP2L2):c.1218C>A (p.Ser406=)	BAIAP2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132873	NM_025045.6(BAIAP2L2):c.1181C>G (p.Thr394Ser)	BAIAP2L2 (T394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301163	NM_025045.6(BAIAP2L2):c.1177A>G (p.Met393Val)	BAIAP2L2 (M393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365021	NM_025045.6(BAIAP2L2):c.1139C>T (p.Ala380Val)	BAIAP2L2 (A380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132872	NM_025045.6(BAIAP2L2):c.1115C>G (p.Ser372Cys)	BAIAP2L2 (S372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374906	NM_025045.6(BAIAP2L2):c.976G>A (p.Ala326Thr)	BAIAP2L2 (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270364	NM_025045.6(BAIAP2L2):c.973G>A (p.Gly325Ser)	BAIAP2L2 (G325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132890	NM_025045.6(BAIAP2L2):c.959C>G (p.Pro320Arg)	BAIAP2L2 (P320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395102	NM_025045.6(BAIAP2L2):c.916G>A (p.Gly306Ser)	BAIAP2L2 (G306S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514269	NM_025045.6(BAIAP2L2):c.905C>G (p.Ser302Trp)	BAIAP2L2 (S302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132889	NM_025045.6(BAIAP2L2):c.872G>A (p.Arg291His)	BAIAP2L2 (R291H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597909	NM_025045.6(BAIAP2L2):c.868G>C (p.Asp290His)	BAIAP2L2 (D290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494426	NM_025045.6(BAIAP2L2):c.853T>G (p.Ser285Ala)	BAIAP2L2 (S285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493610	NM_025045.6(BAIAP2L2):c.832G>A (p.Glu278Lys)	BAIAP2L2 (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348780	NM_025045.6(BAIAP2L2):c.810C>G (p.His270Gln)	BAIAP2L2 (H270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132888	NM_025045.6(BAIAP2L2):c.806G>A (p.Arg269Gln)	BAIAP2L2 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353490	NM_025045.6(BAIAP2L2):c.799C>T (p.Arg267Cys)	BAIAP2L2 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407566	NM_025045.6(BAIAP2L2):c.776C>T (p.Pro259Leu)	BAIAP2L2 (P259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496164	NM_025045.6(BAIAP2L2):c.764T>G (p.Met255Arg)	BAIAP2L2 (M255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132887	NM_025045.6(BAIAP2L2):c.724C>T (p.Pro242Ser)	BAIAP2L2 (P242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132886	NM_025045.6(BAIAP2L2):c.697G>C (p.Gly233Arg)	BAIAP2L2 (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387921	NM_025045.6(BAIAP2L2):c.682C>A (p.Arg228Ser)	BAIAP2L2 (R228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458282	NM_025045.6(BAIAP2L2):c.629A>G (p.Gln210Arg)	BAIAP2L2 (Q210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568801	NM_025045.6(BAIAP2L2):c.575T>C (p.Leu192Pro)	BAIAP2L2 (L192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539215	NM_025045.6(BAIAP2L2):c.542A>G (p.Lys181Arg)	BAIAP2L2 (K181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383943	NM_025045.6(BAIAP2L2):c.482T>C (p.Leu161Pro)	BAIAP2L2 (L161P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617251	NM_025045.6(BAIAP2L2):c.451G>T (p.Val151Leu)	BAIAP2L2 (V151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386723	NM_025045.6(BAIAP2L2):c.413C>G (p.Ser138Cys)	BAIAP2L2 (S138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592607	NM_025045.6(BAIAP2L2):c.407G>A (p.Cys136Tyr)	BAIAP2L2 (C136Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132885	NM_025045.6(BAIAP2L2):c.373G>C (p.Glu125Gln)	BAIAP2L2 (E125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537216	NM_025045.6(BAIAP2L2):c.347A>G (p.Lys116Arg)	BAIAP2L2 (K116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613801	NM_025045.6(BAIAP2L2):c.263A>G (p.Asp88Gly)	BAIAP2L2 (D88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132884	NM_025045.6(BAIAP2L2):c.235T>C (p.Ser79Pro)	BAIAP2L2 (S79P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494961	NM_025045.6(BAIAP2L2):c.188T>C (p.Leu63Pro)	BAIAP2L2 (L63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132883	NM_025045.6(BAIAP2L2):c.182G>A (p.Arg61His)	BAIAP2L2 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463280	NM_025045.6(BAIAP2L2):c.145G>A (p.Glu49Lys)	BAIAP2L2 (E49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132876	NM_025045.6(BAIAP2L2):c.136G>A (p.Glu46Lys)	BAIAP2L2 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269156	NM_025045.6(BAIAP2L2):c.130C>G (p.Leu44Val)	BAIAP2L2 (L44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380405	NM_025045.6(BAIAP2L2):c.115C>T (p.Arg39Cys)	BAIAP2L2 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611813	NM_025045.6(BAIAP2L2):c.72C>A (p.Asn24Lys)	BAIAP2L2 (N24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225770	NM_025045.6(BAIAP2L2):c.55A>G (p.Ile19Val)	BAIAP2L2 (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239335	NM_025045.6(BAIAP2L2):c.39G>A (p.Met13Ile)	BAIAP2L2 (M13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359750	NM_025045.6(BAIAP2L2):c.37A>G (p.Met13Val)	BAIAP2L2 (M13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248115	NC_000022.10:g.(?_38369502)_(38565433_?)del	PLA2G6, SLC16A8 +3 more	Deletion	not provided	GPathogenic
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	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: 85