ClinVar for Gene (Select 124751) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +209 more	Duplication	not provided	GUncertain significance
Select item 3116240	NM_001304947.3(KRBA2):c.308G>A (p.Arg103Gln)	KRBA2 (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116239	NM_001304947.3(KRBA2):c.1183G>A (p.Ala395Thr)	KRBA2 (A395T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116238	NM_001304947.3(KRBA2):c.1068G>C (p.Glu356Asp)	KRBA2 (E356D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116237	NM_001304947.3(KRBA2):c.933G>A (p.Met311Ile)	KRBA2 (M311I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116236	NM_001304947.3(KRBA2):c.794T>C (p.Ile265Thr)	KRBA2 (I347T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2616228	NM_001304947.3(KRBA2):c.371A>G (p.His124Arg)	KRBA2 (H206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594380	NM_001304947.3(KRBA2):c.310T>C (p.Tyr104His)	KRBA2 (Y186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2392657	NM_001304947.3(KRBA2):c.229G>A (p.Ala77Thr)	KRBA2 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379506	NM_001304947.3(KRBA2):c.995A>G (p.Tyr332Cys)	KRBA2 (Y414C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364699	NM_001304947.3(KRBA2):c.76A>G (p.Met26Val)	KRBA2 (M26V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356203	NM_001304947.3(KRBA2):c.226C>T (p.Arg76Cys)	KRBA2 (R158C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351698	NM_001304947.3(KRBA2):c.796G>A (p.Val266Ile)	KRBA2 (V266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341800	NM_001304947.3(KRBA2):c.365T>C (p.Ile122Thr)	KRBA2 (I122T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323882	NM_001304947.3(KRBA2):c.511C>G (p.Pro171Ala)	KRBA2 (P171A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321389	NM_001304947.3(KRBA2):c.577G>T (p.Asp193Tyr)	KRBA2 (D193Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316528	NM_001304947.3(KRBA2):c.215G>A (p.Arg72His)	KRBA2 (R72H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299377	NM_001304947.3(KRBA2):c.95T>C (p.Met32Thr)	KRBA2 (M114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272061	NM_001304947.3(KRBA2):c.389T>A (p.Met130Lys)	KRBA2 (M130K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246015	NM_001304947.3(KRBA2):c.892C>T (p.His298Tyr)	KRBA2 (H298Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241544	NM_001304947.3(KRBA2):c.1155G>T (p.Met385Ile)	KRBA2 (M385I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219302	NM_001304947.3(KRBA2):c.911A>C (p.Lys304Thr)	KRBA2 (K304T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1460382	NC_000017.10:g.(?_8136214)_(8285628_?)del	ARHGEF15, KRBA2 +6 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 1441447	NC_000017.10:g.(?_8131498)_(8285628_?)dup	ARHGEF15, KRBA2 +6 more	Duplication	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1062439	NC_000017.10:g.(?_8192101)_(8283260_?)dup	SLC25A35, ARHGEF15 +4 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 833339	NC_000017.11:g.(?_8228170)_(8382320_?)dup	ARHGEF15, CTC1 +6 more	Duplication	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060195, LOC130060196 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 564396	GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3	ARHGEF15, CCDC42 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	KCNAB3, LOC130060206 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 46