ClinVar for Gene (Select 146852) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2540784	NM_153007.5(ODF4):c.698G>C (p.Arg233Thr)	ODF4 (R118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459155	NM_153007.5(ODF4):c.458C>T (p.Thr153Ile)	ODF4 (T38I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2392685	NM_153007.5(ODF4):c.431G>A (p.Cys144Tyr)	ODF4 (C144Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336320	NM_153007.5(ODF4):c.55C>A (p.Gln19Lys)	ODF4 (Q19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336319	NM_153007.5(ODF4):c.54C>A (p.Asp18Glu)	ODF4 (D18E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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, CTC1 +6 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 1441447	NC_000017.10:g.(?_8131498)_(8285628_?)dup	PFAS, RANGRF +6 more	Duplication	Diamond-Blackfan anemia +1 more	GUncertain significance
Select item 1062439	NC_000017.10:g.(?_8192101)_(8283260_?)dup	ARHGEF15, KRBA2 +4 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 833339	NC_000017.11:g.(?_8228170)_(8382320_?)dup	CTC1, KRBA2 +6 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815902	GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3	BORCS6, AURKB +18 more	Copy number gain	not provided	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	ALOX12B, ALOX15B +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	LOC112533665, LOC116276454 +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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	LOC130060203, LOC130060204 +110 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +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: 30