DDX55[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2539815	NM_020936.3(DDX55):c.52C>G (p.Pro18Ala)	DDX55 (P18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329460	NM_020936.3(DDX55):c.52C>T (p.Pro18Ser)	DDX55 (P18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081149	NM_020936.3(DDX55):c.116C>T (p.Thr39Ile)	DDX55 (T39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081155	NM_020936.3(DDX55):c.206A>G (p.Glu69Gly)	DDX55 (E69G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081156	NM_020936.3(DDX55):c.280C>G (p.Leu94Val)	DDX55 (L94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408858	NM_020936.3(DDX55):c.296A>G (p.Asp99Gly)	DDX55 (D99G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477285	NM_020936.3(DDX55):c.298G>A (p.Glu100Lys)	DDX55 (E100K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541575	NM_020936.3(DDX55):c.317C>G (p.Thr106Arg)	DDX55 (T106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239601	NM_020936.3(DDX55):c.458C>A (p.Ala153Asp)	DDX55 (A153D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410823	NM_020936.3(DDX55):c.542T>G (p.Phe181Cys)	DDX55 (F181C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284399	NM_020936.3(DDX55):c.644C>T (p.Ala215Val)	DDX55 (A215V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081157	NM_020936.3(DDX55):c.685G>A (p.Gly229Ser)	DDX55 (G229S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212077	NM_020936.3(DDX55):c.688G>A (p.Val230Met)	DDX55 (V230M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081158	NM_020936.3(DDX55):c.704C>T (p.Ala235Val)	DDX55 (A235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081159	NM_020936.3(DDX55):c.721C>T (p.Arg241Cys)	DDX55 (R241C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256862	NM_020936.3(DDX55):c.745T>G (p.Cys249Gly)	DDX55 (C249G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279199	NM_020936.3(DDX55):c.827C>T (p.Thr276Ile)	DDX55 (T276I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263791	NM_020936.3(DDX55):c.897T>G (p.Ile299Met)	DDX55 (I299M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407918	NM_020936.3(DDX55):c.936G>A (p.Met312Ile)	DDX55 (M312I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081160	NM_020936.3(DDX55):c.943C>T (p.Arg315Cys)	DDX55 (R315C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081161	NM_020936.3(DDX55):c.974C>T (p.Thr325Ile)	DDX55 (T325I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081162	NM_020936.3(DDX55):c.988C>T (p.Arg330Trp)	DDX55 (R330W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347608	NM_020936.3(DDX55):c.1050T>A (p.Ser350Arg)	DDX55 (S350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615420	NM_020936.3(DDX55):c.1063C>T (p.Arg355Cys)	DDX55 (R355C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239600	NM_020936.3(DDX55):c.1076C>T (p.Thr359Ile)	DDX55 (T359I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301333	NM_020936.3(DDX55):c.1123A>G (p.Met375Val)	DDX55 (M375V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081147	NM_020936.3(DDX55):c.1139T>G (p.Ile380Ser)	DDX55 (I380S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081148	NM_020936.3(DDX55):c.1142A>G (p.Asn381Ser)	DDX55 (N381S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325438	NM_020936.3(DDX55):c.1153A>C (p.Ile385Leu)	DDX55 (I385L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209508	NM_020936.3(DDX55):c.1157A>G (p.Asn386Ser)	DDX55 (N386S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621115	NM_020936.3(DDX55):c.1193G>A (p.Arg398Lys)	DDX55 (R398K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3081151	NM_020936.3(DDX55):c.1201G>C (p.Ala401Pro)	DDX55 (A401P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081152	NM_020936.3(DDX55):c.1228A>G (p.Met410Val)	DDX55 (M410V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276721	NM_020936.3(DDX55):c.1304A>G (p.His435Arg)	DDX55 (H435R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558881	NM_020936.3(DDX55):c.1325G>T (p.Arg442Ile)	DDX55 (R442I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345088	NM_020936.3(DDX55):c.1350C>A (p.Ser450Arg)	DDX55 (S450R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081153	NM_020936.3(DDX55):c.1358G>A (p.Arg453Gln)	DDX55 (R453Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543661	NM_020936.3(DDX55):c.1361G>A (p.Gly454Asp)	DDX55 (G454D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295002	NM_020936.3(DDX55):c.1381C>T (p.Pro461Ser)	DDX55 (P461S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540550	NM_020936.3(DDX55):c.1385A>G (p.Lys462Arg)	DDX55 (K462R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352205	NM_020936.3(DDX55):c.1429G>A (p.Val477Met)	DDX55 (V477M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495228	NM_020936.3(DDX55):c.1448C>T (p.Thr483Met)	DDX55 (T483M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081154	NM_020936.3(DDX55):c.1498G>C (p.Glu500Gln)	DDX55 (E500Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402789	NM_020936.3(DDX55):c.1575G>C (p.Lys525Asn)	DDX55 (K525N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261233	NM_020936.3(DDX55):c.1607A>C (p.Glu536Ala)	DDX55 (E536A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519353	NM_020936.3(DDX55):c.1759A>G (p.Lys587Glu)	DDX55 (K587E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	DDX55, DENR +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2426783	NC_000012.11:g.(?_122277634)_(124242579_?)del	ABCB9, ARL6IP4 +37 more	Deletion	not provided	GUncertain significance
Select item 1527746	GRCh37/hg19 12q24.31(chr12:124097565-124278641)	ATP6V0A2, DDX55 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1340887	GRCh37/hg19 12q24.31(chr12:123807132-124300075)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	BRI3BP, CCDC92 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 980994	GRCh37/hg19 12q24.31(chr12:123807132-124299781)x3	ATP6V0A2, DDX55 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 563936	GRCh37/hg19 12q24.31(chr12:124097565-124462296)x3	EIF2B1, TCTN2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 393913	GRCh37/hg19 12q24.31(chr12:123404920-124192840)	ABCB9, ARL6IP4 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 74