ClinVar for Gene (Select 54555) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271342	NM_019070.5(DDX49):c.899G>A (p.Arg300Gln)	DDX49 (R300Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271341	NM_019070.5(DDX49):c.422T>G (p.Phe141Cys)	DDX49 (F141C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271340	NM_019070.5(DDX49):c.653A>T (p.Gln218Leu)	DDX49 (Q218L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271339	NM_019070.5(DDX49):c.697G>C (p.Ala233Pro)	DDX49 (A233P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271338	NM_019070.5(DDX49):c.330G>A (p.Met110Ile)	DDX49 (M110I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271336	NM_019070.5(DDX49):c.739G>A (p.Glu247Lys)	DDX49 (E247K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271335	NM_019070.5(DDX49):c.806G>A (p.Arg269His)	DDX49 (R269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271334	NM_019070.5(DDX49):c.271C>T (p.Arg91Trp)	DDX49 (R91W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271333	NM_019070.5(DDX49):c.169G>C (p.Val57Leu)	DDX49 (V57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271332	NM_019070.5(DDX49):c.1238G>A (p.Arg413Gln)	DDX49 (R413Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081069	NM_019070.5(DDX49):c.841A>G (p.Met281Val)	DDX49 (M281V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081068	NM_019070.5(DDX49):c.826G>A (p.Val276Met)	DDX49 (V276M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081067	NM_019070.5(DDX49):c.521C>T (p.Ala174Val)	DDX49 (A174V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081066	NM_019070.5(DDX49):c.521C>A (p.Ala174Glu)	DDX49 (A174E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081065	NM_019070.5(DDX49):c.499G>A (p.Val167Met)	DDX49 (V167M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081064	NM_019070.5(DDX49):c.348G>T (p.Glu116Asp)	DDX49 (E116D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081063	NM_019070.5(DDX49):c.305G>T (p.Cys102Phe)	DDX49 (C102F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081062	NM_019070.5(DDX49):c.1286G>A (p.Arg429His)	DDX49 (R429H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081061	NM_019070.5(DDX49):c.106A>G (p.Ile36Val)	DDX49, LOC130064040 (I36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2649603	NM_019070.5(DDX49):c.1260G>C (p.Gly420=)	DDX49	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649602	NM_019070.5(DDX49):c.171C>T (p.Val57=)	DDX49	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595246	NM_019070.5(DDX49):c.1031G>A (p.Arg344Gln)	DDX49 (R344Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589876	NM_019070.5(DDX49):c.1391G>A (p.Arg464His)	DDX49 (R464H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2483526	NM_019070.5(DDX49):c.634C>T (p.Pro212Ser)	DDX49 (P212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2376348	NM_019070.5(DDX49):c.979G>A (p.Gly327Arg)	DDX49 (G327R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365138	NM_019070.5(DDX49):c.440G>C (p.Arg147Pro)	DDX49 (R147P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356280	NM_019070.5(DDX49):c.815G>C (p.Ser272Thr)	DDX49 (S272T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278931	NM_019070.5(DDX49):c.530C>G (p.Pro177Arg)	DDX49 (P177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38