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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382495	NM_001347721.2(DYRK1A):c.1520-1G>C	DYRK1A	Single nucleotide variant (splice acceptor variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 3360714	NM_001347721.2(DYRK1A):c.502T>C (p.Tyr168His)	DYRK1A (Y139H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248162	NC_000021.8:g.(?_38859534)_(38868543_?)del	DYRK1A	Deletion	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 3248160	NC_000021.8:g.(?_38868400)_(38884834_?)dup	DYRK1A	Duplication	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 3248158	NC_000021.8:g.(?_38850463)_(38850622_?)del	DYRK1A	Deletion	DYRK1A-related intellectual disability syndrome	GPathogenic
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 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

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Links from Gene

Items: 36