Related gene-specific medical variations for Gene (Select 1859) - ClinVar

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

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062324	NM_001347721.2(DYRK1A):c.1072del	DYRK1A	Deletion (splice acceptor variant)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 3062032	NM_001347721.2(DYRK1A):c.1072-2A>C	DYRK1A	Single nucleotide variant (splice acceptor variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 2688989	NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)	DYRK1A (L422P +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2663787	NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)	DYRK1A (F288fs +2 more)	Insertion (frameshift variant)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 2578407	NM_001347721.2(DYRK1A):c.822dup (p.Ile275fs)	DYRK1A (I246fs +2 more)	Duplication (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 2441085	NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)	DYRK1A (N644S +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441084	NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)	DYRK1A (K413R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441083	NM_001347721.2(DYRK1A):c.1071+1_1071+2dup	DYRK1A	Duplication (splice donor variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441082	NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile)	DYRK1A (T469I +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2441081	NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)	DYRK1A (L37V +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 1722317	NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)	DYRK1A (Y300* +2 more)	Duplication (nonsense)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 1341804	NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu)	DYRK1A (P292L +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 1340074	GRCh37/hg19 21q22.13(chr21:38721309-38803816)x1	DYRK1A	Copy number loss	not provided	GPathogenic
Select item 1319230	NM_001347721.2(DYRK1A):c.1214_1217dup (p.Tyr406Ter)	DYRK1A (Y377* +2 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1275809	NM_001347721.2(DYRK1A):c.1743dup (p.Val582fs)	DYRK1A (V553fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1184904	NM_001347721.2(DYRK1A):c.1112del (p.Pro371fs)	DYRK1A (P342fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1180536	GRCh37/hg19 21q22.13(chr21:38789355-38812821)x1	DYRK1A	Copy number loss	not provided	GUncertain significance
Select item 996768	NM_001347721.2(DYRK1A):c.924+2T>A	DYRK1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987054	NM_001347721.2(DYRK1A):c.489+2T>A	DYRK1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 984687	NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1	DYRK1A	Copy number loss	Complex neurodevelopmental disorder	GPathogenic
Select item 984686	NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1	DYRK1A	Copy number loss	Complex neurodevelopmental disorder	GPathogenic
Select item 982249	GRCh37/hg19 21q22.13(chr21:38719388-38887895)	DYRK1A	Copy number loss	Intellectual disability	GPathogenic
Select item 975538	NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter)	DYRK1A (Q40* +1 more)	Single nucleotide variant (nonsense)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 932454	NM_001347721.2(DYRK1A):c.1015G>T (p.Gly339Trp)	DYRK1A (G348W +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 931464	NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs)	DYRK1A (A439fs +2 more)	Deletion (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 931056	NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs)	DYRK1A (Y424fs +2 more)	Insertion (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 871176	NM_001347721.2(DYRK1A):c.474del (p.Gly159fs)	DYRK1A (G159fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 692243	NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val)	DYRK1A (D334V +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 627624	NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)	DYRK1A (S324R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 623969	NM_001347721.2(DYRK1A):c.1800_1811del (p.His607_His610del)	DYRK1A	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 438288	NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys)	DYRK1A (Y327C +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 253841	GRCh37/hg19 21q22.13(chr21:38808582-38918599)x3	DYRK1A	Copy number gain	See cases	GUncertain significance

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: 32