ZBED3[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	AGGF1, AP3B1 +23 more	Copy number loss	See cases	GPathogenic
Select item 2391492	NM_032367.4(ZBED3):c.628C>T (p.Pro210Ser)	ZBED3 (P210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2655548	NM_032367.4(ZBED3):c.536C>G (p.Ala179Gly)	ZBED3 (A179G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2551156	NM_032367.4(ZBED3):c.455G>A (p.Arg152Gln)	ZBED3 (R152Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513333	NM_032367.4(ZBED3):c.334G>A (p.Ala112Thr)	LOC129994095, ZBED3 (A112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394204	NM_032367.4(ZBED3):c.230G>C (p.Gly77Ala)	LOC129994095, ZBED3 (G77A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404807	NM_032367.4(ZBED3):c.224A>T (p.Gln75Leu)	LOC129994095, ZBED3 (Q75L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343836	NM_032367.4(ZBED3):c.221A>C (p.Glu74Ala)	LOC129994095, ZBED3 (E74A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389600	NM_032367.4(ZBED3):c.218G>C (p.Gly73Ala)	LOC129994095, ZBED3 (G73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389599	NM_032367.4(ZBED3):c.217G>C (p.Gly73Arg)	LOC129994095, ZBED3 (G73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247520	NM_032367.4(ZBED3):c.196T>C (p.Trp66Arg)	LOC129994095, ZBED3 (W66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475628	NM_032367.4(ZBED3):c.178G>A (p.Gly60Arg)	LOC129994095, ZBED3 (G60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285471	NM_032367.4(ZBED3):c.20C>A (p.Ala7Asp)	ZBED3 (A7D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 1808746	GRCh37/hg19 5q13.3(chr5:76239549-76720244)x3	AGGF1, CRHBP +2 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563080	GRCh37/hg19 5q13.3(chr5:76159960-76718626)x3	AGGF1, CRHBP +3 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 22