DDX39B[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 722941	NM_004640.7(DDX39B):c.1038A>G (p.Leu346=)	ATP6V1G2-DDX39B, DDX39B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2383070	NM_004640.7(DDX39B):c.863A>G (p.Asn288Ser)	ATP6V1G2-DDX39B, DDX39B (N288S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3081009	NM_004640.7(DDX39B):c.570T>G (p.Ile190Met)	ATP6V1G2-DDX39B, DDX39B (I190M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2445458	NM_004640.7(DDX39B):c.433-1G>T	ATP6V1G2-DDX39B, DDX39B	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 708774	NM_004640.7(DDX39B):c.433-6C>T	ATP6V1G2-DDX39B, DDX39B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2445456	NM_004640.7(DDX39B):c.368G>A (p.Arg123Gln)	DDX39B, ATP6V1G2-DDX39B (R123Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2445455	NM_004640.7(DDX39B):c.275G>A (p.Gly92Asp)	ATP6V1G2-DDX39B, DDX39B (G92D)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 707911	NM_004640.7(DDX39B):c.212-4T>C	ATP6V1G2-DDX39B, DDX39B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2269639	NM_004640.7(DDX39B):c.181G>T (p.Val61Phe)	ATP6V1G2-DDX39B, DDX39B (V61F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2445457	NM_004640.7(DDX39B):c.132C>G (p.Ser44Arg)	DDX39B, ATP6V1G2-DDX39B (S44R)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2445454	NM_004640.7(DDX39B):c.109G>T (p.Gly37Cys)	ATP6V1G2-DDX39B, DDX39B (G37C)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3081011	NM_004640.7(DDX39B):c.92C>T (p.Ala31Val)	ATP6V1G2-DDX39B, DDX39B (A31V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603958	NM_004640.7(DDX39B):c.91G>C (p.Ala31Pro)	ATP6V1G2-DDX39B, DDX39B (A31P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2322935	NM_004640.7(DDX39B):c.65C>G (p.Ala22Gly)	ATP6V1G2-DDX39B, DDX39B (A22G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3081010	NM_004640.7(DDX39B):c.64G>C (p.Ala22Pro)	ATP6V1G2-DDX39B, DDX39B (A22P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 24