DDX46[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 58362	GRCh38/hg38 5q31.1(chr5:133531234-134847678)x1	C5orf15, C5orf24 +100 more	Copy number loss	See cases	GPathogenic
Select item 2333473	NM_001300860.2(DDX46):c.229G>T (p.Asp77Tyr)	DDX46 (D77Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226810	NM_001300860.2(DDX46):c.231C>G (p.Asp77Glu)	DDX46 (D77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243387	NM_001300860.2(DDX46):c.761A>G (p.Glu254Gly)	DDX46 (E254G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527876	NM_001300860.2(DDX46):c.1063T>A (p.Leu355Met)	DDX46 (L355M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081045	NM_001300860.2(DDX46):c.1634G>A (p.Arg545His)	DDX46 (R544H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327123	NM_001300860.2(DDX46):c.1810A>G (p.Lys604Glu)	DDX46 (K603E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081046	NM_001300860.2(DDX46):c.1816T>C (p.Phe606Leu)	DDX46 (F606L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602433	NM_001300860.2(DDX46):c.1852G>C (p.Glu618Gln)	DDX46 (E618Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081047	NM_001300860.2(DDX46):c.2260A>C (p.Ser754Arg)	DDX46 (S753R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474904	NM_001300860.2(DDX46):c.2266T>A (p.Phe756Ile)	DDX46 (F756I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684500	NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)	DDX46 (N939S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypospadias +5 more	GUncertain significance
Select item 2685172	GRCh37/hg19 5q31.1(chr5:134065273-134159149)x1	CAMLG, DDX46	Copy number loss	not provided	GUncertain significance
Select item 2684432	GRCh37/hg19 5q31.1(chr5:133713529-134383753)x3	C5orf24, CAMLG +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 30