"GeneDx"[submitter] AND "DYRK1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 151059	GRCh38/hg38 21q22.13(chr21:37364925-37368772)x3	DYRK1A, LOC130066653	Copy number gain	See cases	GUncertain significance
Select item 1249958	NM_001347721.2(DYRK1A):c.-324A>C	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1296230	NM_001347721.2(DYRK1A):c.-161C>T	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 59041	GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1	DSCR10, DSCR4 +31 more	Copy number loss	See cases	GPathogenic
Select item 1236621	NM_001347721.2(DYRK1A):c.-76-9690T>C	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1242994	NM_001347721.2(DYRK1A):c.-76-9646C>T	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1213099	NM_001347721.2(DYRK1A):c.-76-1713A>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671429	NM_001347721.2(DYRK1A):c.-76-1479G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679843	NM_001347721.2(DYRK1A):c.-76-1445A>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279138	NM_001347721.2(DYRK1A):c.-76-1065A>G	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1201294	NM_001347721.2(DYRK1A):c.-76-211dup	DYRK1A	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1261606	NM_001347721.2(DYRK1A):c.-76-147_-76-144dup	DYRK1A	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2575026	NM_001347721.2(DYRK1A):c.-76-13T>A	DYRK1A	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 679028	NM_001347721.2(DYRK1A):c.-76-12T>C	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 387313	NM_001347721.2(DYRK1A):c.-37C>T	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388430	NM_001347721.2(DYRK1A):c.-16G>A	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 424477	NM_001347721.2(DYRK1A):c.-1G>A	DYRK1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 386994	NM_001347721.2(DYRK1A):c.10+6T>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 507675	NM_001347721.2(DYRK1A):c.10+9A>G	DYRK1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1268823	NM_001347721.2(DYRK1A):c.10+104_10+106del	DYRK1A	Deletion (intron variant)	not provided	GBenign
Select item 681714	NM_001347721.2(DYRK1A):c.11-226T>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243639	NM_001347721.2(DYRK1A):c.11-175C>T	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225546	NM_001347721.2(DYRK1A):c.11-40A>C	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512605	NM_001347721.2(DYRK1A):c.11-17C>T	DYRK1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383616	NM_001347721.2(DYRK1A):c.11-15C>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 420556	NM_001347721.2(DYRK1A):c.11-14_11-13del	DYRK1A	Deletion (intron variant)	not specified	GLikely benign
Select item 959254	NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)	DYRK1A (T7A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1800652	NM_001347721.2(DYRK1A):c.46C>T (p.Arg16Trp)	DYRK1A (R16W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500606	NM_001347721.2(DYRK1A):c.69C>A (p.Phe23Leu)	DYRK1A (F23L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311471	NM_001347721.2(DYRK1A):c.93T>A (p.Ala31=)	DYRK1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1311251	NM_001347721.2(DYRK1A):c.117G>T (p.Gln39His)	DYRK1A (Q10H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430291	NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys)	DYRK1A (R43C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 503817	NM_001347721.2(DYRK1A):c.143dup (p.Ser49fs)	DYRK1A (S49fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 620262	NM_001347721.2(DYRK1A):c.151C>T (p.Gln51Ter)	DYRK1A (Q51* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 452388	NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)	DYRK1A (Q63* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 450805	NM_001347721.2(DYRK1A):c.187C>G (p.Gln63Glu)	DYRK1A (Q63E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 514588	NM_001347721.2(DYRK1A):c.192A>G (p.Gln64=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome +1 more	GLikely benign
Select item 3365730	NM_001347721.2(DYRK1A):c.194C>T (p.Pro65Leu)	DYRK1A (P36L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674489	NM_001347721.2(DYRK1A):c.207+112G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239365	NM_001347721.2(DYRK1A):c.207+143_207+145del	DYRK1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1242291	NM_001347721.2(DYRK1A):c.207+168T>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671814	NM_001347721.2(DYRK1A):c.207+273_207+277del	DYRK1A	Deletion (intron variant)	not provided	GLikely benign
Select item 669820	NM_001347721.2(DYRK1A):c.207+273G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217432	NM_001347721.2(DYRK1A):c.207+292A>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677320	NM_001347721.2(DYRK1A):c.208-201C>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510639	NM_001347721.2(DYRK1A):c.208-41del	DYRK1A	Deletion (intron variant)	not specified	GLikely benign
Select item 421112	NM_001347721.2(DYRK1A):c.208-38_208-35del	DYRK1A	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 376936	NM_001347721.2(DYRK1A):c.208-40C>G	DYRK1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 511649	NM_001347721.2(DYRK1A):c.208-38G>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GLikely benign
Select item 514757	NM_001347721.2(DYRK1A):c.208-34A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 513515	NM_001347721.2(DYRK1A):c.208-33T>C	DYRK1A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 998447	NM_001347721.2(DYRK1A):c.208-28G>C	DYRK1A	Single nucleotide variant (splice acceptor variant +1 more)	DYRK1A-related intellectual disability syndrome +1 more	GUncertain significance
Select item 218379	NM_001347721.2(DYRK1A):c.208-28G>A	DYRK1A	Single nucleotide variant (splice acceptor variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1254612	NM_001347721.2(DYRK1A):c.208-20C>T	DYRK1A (P72L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722851	NM_001347721.2(DYRK1A):c.208-14T>C	DYRK1A (I74T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311336	NM_001347721.2(DYRK1A):c.216G>A (p.Met72Ile)	DYRK1A (M43I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524106	NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs)	DYRK1A (Q83fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3365934	NM_001347721.2(DYRK1A):c.228C>G (p.Phe76Leu)	DYRK1A (F47L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382661	NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=)	DYRK1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1691633	NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs)	DYRK1A (L55fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 418949	NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)	DYRK1A (S59fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 514662	NM_001347721.2(DYRK1A):c.267T>G (p.Val89=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome +1 more	GLikely benign
Select item 452476	NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)	DYRK1A (Y104* +2 more)	Single nucleotide variant (nonsense)	DYRK1A-related intellectual disability syndrome +1 more	GPathogenic
Select item 1243675	NM_001347721.2(DYRK1A):c.300+38G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674490	NM_001347721.2(DYRK1A):c.300+157G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181001	NM_001347721.2(DYRK1A):c.300+233A>C	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681325	NM_001347721.2(DYRK1A):c.301-212G>A	DYRK1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509426	NM_001347721.2(DYRK1A):c.301-17A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GLikely benign
Select item 523995	NM_001347721.2(DYRK1A):c.317del (p.Lys106fs)	DYRK1A (K106fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 373087	NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)	DYRK1A (R117* +2 more)	Single nucleotide variant (nonsense)	DYRK1A-related intellectual disability syndrome +2 more	GPathogenic
Select item 1311547	NM_001347721.2(DYRK1A):c.323G>A (p.Arg108Gln)	DYRK1A (R108Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1076837	NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter)	DYRK1A (Q111* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 385629	NM_001347721.2(DYRK1A):c.333A>G (p.Gln111=)	DYRK1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 280666	NM_001347721.2(DYRK1A):c.341del (p.Gln114fs)	DYRK1A (Q123fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 472251	NM_001347721.2(DYRK1A):c.348C>T (p.Asp116=)	DYRK1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1055370	NM_001347721.2(DYRK1A):c.349G>A (p.Asp117Asn)	DYRK1A (D117N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 435009	NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn)	DYRK1A (K130N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 383249	NM_001347721.2(DYRK1A):c.363G>A (p.Lys121=)	DYRK1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1309752	NM_001347721.2(DYRK1A):c.370C>T (p.Arg124Trp)	DYRK1A (R124W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693322	NM_001347721.2(DYRK1A):c.383A>G (p.Asn128Ser)	DYRK1A (N128S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368316	NM_001347721.2(DYRK1A):c.391T>C (p.Tyr131His)	DYRK1A (Y102H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304305	NM_001347721.2(DYRK1A):c.411T>A (p.Asp137Glu)	DYRK1A (D108E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753666	NM_001347721.2(DYRK1A):c.450C>T (p.Tyr150=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome +1 more	GLikely benign
Select item 1302610	NM_001347721.2(DYRK1A):c.451G>A (p.Glu151Lys)	DYRK1A (E122K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2577791	NM_001347721.2(DYRK1A):c.473A>T (p.Lys158Ile)	DYRK1A (K129I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423407	NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)	DYRK1A (G168D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2444612	NM_001347721.2(DYRK1A):c.489+1G>A	DYRK1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 210897	NM_001347721.2(DYRK1A):c.489+9A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 384924	NM_001347721.2(DYRK1A):c.489+12G>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome +1 more	GLikely benign
Select item 1195167	NM_001347721.2(DYRK1A):c.489+22A>G	DYRK1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190843	NM_001347721.2(DYRK1A):c.490-111del	DYRK1A	Deletion (intron variant)	not provided	GLikely benign
Select item 424369	NM_001347721.2(DYRK1A):c.490-1G>A	DYRK1A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 385904	NM_001347721.2(DYRK1A):c.492T>C (p.Val164=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 430259	NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly)	DYRK1A (D178G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 422108	NM_001347721.2(DYRK1A):c.508_513del (p.Arg170_Val171del)	DYRK1A	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 502025	NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs)	DYRK1A (I152fs +2 more)	Deletion (frameshift variant)	DYRK1A-related intellectual disability syndrome +1 more	GPathogenic
Select item 423335	NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)	DYRK1A (K153fs +2 more)	Deletion (frameshift variant)	DYRK1A-related intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic

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