DDX43[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 776131	NM_018665.3(DDX43):c.17G>A (p.Gly6Glu)	DDX43, OOEP (G6E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2301449	NM_018665.3(DDX43):c.125G>A (p.Gly42Glu)	DDX43, OOEP (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553344	NM_018665.3(DDX43):c.143G>C (p.Gly48Ala)	DDX43, OOEP (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550215	NM_018665.3(DDX43):c.146G>C (p.Gly49Ala)	DDX43, OOEP (G49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081040	NM_018665.3(DDX43):c.167G>A (p.Arg56Lys)	DDX43, OOEP (R56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271323	NM_018665.3(DDX43):c.182T>A (p.Val61Glu)	DDX43, OOEP (V61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588914	NM_018665.3(DDX43):c.232T>G (p.Phe78Val)	DDX43, OOEP (F78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729677	NM_018665.3(DDX43):c.276T>A (p.Asn92Lys)	DDX43 (N92K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2475565	NM_018665.3(DDX43):c.281A>G (p.Gln94Arg)	DDX43 (Q94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271799	NM_018665.3(DDX43):c.427T>G (p.Cys143Gly)	DDX43 (C143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081041	NM_018665.3(DDX43):c.494C>G (p.Ala165Gly)	DDX43 (A165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231885	NM_018665.3(DDX43):c.531A>T (p.Arg177Ser)	DDX43 (R177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081042	NM_018665.3(DDX43):c.655G>C (p.Glu219Gln)	DDX43 (E219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406366	NM_018665.3(DDX43):c.662T>A (p.Phe221Tyr)	DDX43 (F221Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271321	NM_018665.3(DDX43):c.841G>A (p.Asp281Asn)	DDX43 (D281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512740	NM_018665.3(DDX43):c.848T>C (p.Ile283Thr)	DDX43 (I283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518246	NM_018665.3(DDX43):c.866G>A (p.Gly289Glu)	DDX43 (G289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456161	NM_018665.3(DDX43):c.907C>A (p.His303Asn)	DDX43 (H303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223274	NM_018665.3(DDX43):c.929T>C (p.Leu310Pro)	DDX43 (L310P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464026	NM_018665.3(DDX43):c.949C>T (p.Pro317Ser)	DDX43 (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081043	NM_018665.3(DDX43):c.956T>C (p.Met319Thr)	DDX43 (M319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081044	NM_018665.3(DDX43):c.957G>A (p.Met319Ile)	DDX43 (M319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081034	NM_018665.3(DDX43):c.1022A>T (p.Tyr341Phe)	DDX43 (Y341F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479053	NM_018665.3(DDX43):c.1057G>A (p.Gly353Arg)	DDX43 (G353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456160	NM_018665.3(DDX43):c.1145G>C (p.Ser382Thr)	DDX43 (S382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522367	NM_018665.3(DDX43):c.1222C>A (p.Pro408Thr)	DDX43 (P408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261402	NM_018665.3(DDX43):c.1247A>G (p.Asp416Gly)	DDX43 (D416G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081035	NM_018665.3(DDX43):c.1295A>T (p.His432Leu)	DDX43 (H432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271322	NM_018665.3(DDX43):c.1306C>T (p.Arg436Cys)	DDX43 (R436C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081036	NM_018665.3(DDX43):c.1394T>C (p.Ile465Thr)	DDX43 (I465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210980	NM_018665.3(DDX43):c.1397T>C (p.Ile466Thr)	DDX43 (I466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081037	NM_018665.3(DDX43):c.1405A>G (p.Thr469Ala)	DDX43 (T469A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081038	NM_018665.3(DDX43):c.1480G>A (p.Val494Ile)	DDX43 (V494I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532212	NM_018665.3(DDX43):c.1575T>G (p.Asp525Glu)	DDX43 (D525E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081039	NM_018665.3(DDX43):c.1583A>G (p.Lys528Arg)	DDX43 (K528R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492037	NM_018665.3(DDX43):c.1622T>A (p.Leu541Gln)	DDX43 (L541Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540805	NM_018665.3(DDX43):c.1678T>A (p.Tyr560Asn)	DDX43 (Y560N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349233	NM_018665.3(DDX43):c.1696C>T (p.Arg566Trp)	DDX43 (R566W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412157	NM_018665.3(DDX43):c.1848G>T (p.Glu616Asp)	DDX43 (E616D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233525	NM_018665.3(DDX43):c.1870T>C (p.Phe624Leu)	DDX43 (F624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684447	GRCh37/hg19 6q13(chr6:73879839-74610369)x3	CD109, CGAS +10 more	Copy number gain	not provided	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2, CD109 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1410289	NC_000006.11:g.(?_73879449)_(74210458_?)dup	KHDC1L, KHDC3L +7 more	Duplication	not provided	GUncertain significance
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1071718	NC_000006.11:g.(?_72596727)_(74363609_?)del	CGAS, DDX43 +10 more	Deletion	Salla disease	GPathogenic
Select item 814829	GRCh37/hg19 6q13(chr6:73881985-74138519)x3	KHDC3L, OOEP +6 more	Copy number gain	not provided	GUncertain significance
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 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	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: 54