ClinVar for Gene (Select 1859) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337064	NM_001347721.2(DYRK1A):c.1553C>G (p.Ala518Gly)	DYRK1A (A489G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3254763	NM_001347721.2(DYRK1A):c.868A>G (p.Lys290Glu)	DYRK1A (K261E +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 3253219	NM_001347721.2(DYRK1A):c.1838_1839delinsTTGTT (p.Gln613delinsLeuVal)	DYRK1A	Indel (inframe_indel +1 more)	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 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248158	NC_000021.8:g.(?_38850463)_(38850622_?)del	DYRK1A	Deletion	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3237185	NM_001347721.2(DYRK1A):c.1190dup (p.Lys398fs)	DYRK1A (K369fs +2 more)	Duplication (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 3235161	NM_001347721.2(DYRK1A):c.657del (p.Phe219fs)	DYRK1A (F190fs +2 more)	Deletion (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 3234747	NM_001347721.2(DYRK1A):c.457del (p.Asp153fs)	DYRK1A (D124fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3086599	NM_001347721.2(DYRK1A):c.2099G>T (p.Arg700Leu)	DYRK1A (R671L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3086598	NM_001347721.2(DYRK1A):c.1636A>G (p.Ser546Gly)	DYRK1A (S517G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3066145	NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)	DYRK1A (K226T +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	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 3061821	NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)	DYRK1A	Deletion (nonsense)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 3026791	NM_001347721.2(DYRK1A):c.681_685del (p.Leu227fs)	DYRK1A (L198fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3015225	NM_001347721.2(DYRK1A):c.1412A>G (p.Lys471Arg)	DYRK1A (K442R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3013007	NM_001347721.2(DYRK1A):c.774A>G (p.Gln258=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 3013006	NM_001347721.2(DYRK1A):c.756A>G (p.Leu252=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 3010050	NM_001347721.2(DYRK1A):c.1766T>C (p.Leu589Ser)	DYRK1A (L560S +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3004941	NM_001347721.2(DYRK1A):c.1735A>G (p.Thr579Ala)	DYRK1A (T579A +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3003821	NM_001347721.2(DYRK1A):c.540A>C (p.Ile180=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 3001285	NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)	DYRK1A (Q63K +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 2998998	NM_001347721.2(DYRK1A):c.1684A>G (p.Thr562Ala)	DYRK1A (T571A +3 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2991935	NM_001347721.2(DYRK1A):c.1308G>T (p.Thr436=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2986064	NM_001347721.2(DYRK1A):c.2204A>T (p.Asp735Val)	DYRK1A (D735V +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2979319	NM_001347721.2(DYRK1A):c.790C>T (p.Leu264=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2976772	NM_001347721.2(DYRK1A):c.300+19T>C	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2976738	NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)	DYRK1A (H383R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 2974578	NM_001347721.2(DYRK1A):c.11-12A>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2973534	NM_001347721.2(DYRK1A):c.1987A>G (p.Thr663Ala)	DYRK1A (T663A +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2972347	NM_001347721.2(DYRK1A):c.1593G>C (p.Gly531=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2966783	NM_001347721.2(DYRK1A):c.129T>C (p.Arg43=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2959034	NM_001347721.2(DYRK1A):c.122G>C (p.Ser41Thr)	DYRK1A (S41T +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2916344	NM_001347721.2(DYRK1A):c.1234C>T (p.Arg412Cys)	DYRK1A (R383C +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2907849	NM_001347721.2(DYRK1A):c.1416A>G (p.Lys472=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2906056	NM_001347721.2(DYRK1A):c.1556G>A (p.Arg519Gln)	DYRK1A (R490Q +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2905591	NM_001347721.2(DYRK1A):c.1936A>G (p.Met646Val)	DYRK1A (M617V +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2898382	NM_001347721.2(DYRK1A):c.1995C>T (p.Asn665=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2890762	NM_001347721.2(DYRK1A):c.708C>G (p.Leu236=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2888664	NM_001347721.2(DYRK1A):c.1071+4A>C	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2887810	NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)	DYRK1A (M30L +1 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 2886396	NM_001347721.2(DYRK1A):c.820A>G (p.Ile274Val)	DYRK1A (I283V +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2886060	NM_001347721.2(DYRK1A):c.1664CTC[1] (p.Pro556del)	DYRK1A (P556del +3 more)	Microsatellite (inframe_deletion +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2885339	NM_001347721.2(DYRK1A):c.1465G>A (p.Ala489Thr)	DYRK1A (A489T +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2881037	NM_001347721.2(DYRK1A):c.1538G>A (p.Ser513Asn)	DYRK1A (S522N +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2875575	NM_001347721.2(DYRK1A):c.427G>A (p.Gly143Arg)	DYRK1A (G143R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2873648	NM_001347721.2(DYRK1A):c.1601C>T (p.Thr534Ile)	DYRK1A (T505I +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2865865	NM_001347721.2(DYRK1A):c.2257A>G (p.Ser753Gly)	DYRK1A (S753G +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2865492	NM_001347721.2(DYRK1A):c.262T>A (p.Ser88Thr)	DYRK1A (S97T +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2863048	NM_001347721.2(DYRK1A):c.924+5G>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2861944	NM_001347721.2(DYRK1A):c.638-14G>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2851564	NM_001347721.2(DYRK1A):c.225C>G (p.Thr75=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2846307	NM_001347721.2(DYRK1A):c.2040C>T (p.Thr680=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2843916	NM_001347721.2(DYRK1A):c.440T>C (p.Met147Thr)	DYRK1A (M156T +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2842962	NM_001347721.2(DYRK1A):c.640dup (p.His214fs)	DYRK1A (H185fs +2 more)	Duplication (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 2842949	NM_001347721.2(DYRK1A):c.96A>T (p.Gly32=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2841453	NM_001347721.2(DYRK1A):c.300+15G>T	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2840983	NM_001347721.2(DYRK1A):c.637+12G>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2838053	NM_001347721.2(DYRK1A):c.924+5G>T	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2837513	NM_001347721.2(DYRK1A):c.1704C>A (p.Val568=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2834677	NM_001347721.2(DYRK1A):c.436T>C (p.Trp146Arg)	DYRK1A (W155R +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2833275	NM_001347721.2(DYRK1A):c.578T>C (p.Ile193Thr)	DYRK1A (I193T +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GBenign
Select item 2832898	NM_001347721.2(DYRK1A):c.625A>T (p.Lys209Ter)	DYRK1A (K180* +2 more)	Single nucleotide variant (nonsense)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 2829226	NM_001347721.2(DYRK1A):c.618_619dup (p.Glu207fs)	DYRK1A (E178fs +2 more)	Duplication (frameshift variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 2827272	NM_001347721.2(DYRK1A):c.1698A>G (p.Thr566=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2824798	NM_001347721.2(DYRK1A):c.1908T>A (p.Ser636=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2817745	NM_001347721.2(DYRK1A):c.208-34A>C	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2815954	NM_001347721.2(DYRK1A):c.984T>G (p.Pro328=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2815363	NM_001347721.2(DYRK1A):c.91G>A (p.Ala31Thr)	DYRK1A (A2T +1 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2814636	NM_001347721.2(DYRK1A):c.728C>G (p.Thr243Ser)	DYRK1A (T243S +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2813835	NM_001347721.2(DYRK1A):c.1692T>C (p.Ala564=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2810546	NM_001347721.2(DYRK1A):c.1212+7T>G	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2810226	NM_001347721.2(DYRK1A):c.1842C>G (p.Ala614=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2810165	NM_001347721.2(DYRK1A):c.956G>A (p.Arg319Gln)	DYRK1A (R319Q +2 more)	Single nucleotide variant (missense variant)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2803668	NM_001347721.2(DYRK1A):c.924+14C>T	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2799334	NM_001347721.2(DYRK1A):c.1833A>G (p.Gly611=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2798209	NM_001347721.2(DYRK1A):c.1770T>C (p.His590=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2796927	NM_001347721.2(DYRK1A):c.638-13T>C	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2796174	NM_001347721.2(DYRK1A):c.1882A>G (p.Thr628Ala)	DYRK1A (T637A +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2795147	NM_001347721.2(DYRK1A):c.1604C>A (p.Ala535Asp)	DYRK1A (A544D +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2793133	NM_001347721.2(DYRK1A):c.1598T>A (p.Phe533Tyr)	DYRK1A (F504Y +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2783114	NM_001347721.2(DYRK1A):c.1737C>T (p.Thr579=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2780789	NM_001347721.2(DYRK1A):c.1464C>A (p.Pro488=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2776565	NM_001347721.2(DYRK1A):c.1592G>A (p.Gly531Glu)	DYRK1A (G502E +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2773259	NM_001347721.2(DYRK1A):c.258A>G (p.Lys86=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2772565	NM_001347721.2(DYRK1A):c.2069A>G (p.Asp690Gly)	DYRK1A (D690G +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2772238	NM_001347721.2(DYRK1A):c.1815C>T (p.His605=)	DYRK1A	Single nucleotide variant (synonymous variant +1 more)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2767107	NM_001347721.2(DYRK1A):c.1811A>T (p.His604Leu)	DYRK1A (H575L +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2763948	NM_001347721.2(DYRK1A):c.1832G>A (p.Gly611Glu)	DYRK1A (G620E +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2761902	NM_001347721.2(DYRK1A):c.1215G>A (p.Glu405=)	DYRK1A	Single nucleotide variant (synonymous variant)	DYRK1A-related intellectual disability syndrome	GLikely benign
Select item 2761373	NM_001347721.2(DYRK1A):c.1615G>A (p.Ala539Thr)	DYRK1A (A510T +2 more)	Single nucleotide variant (missense variant +1 more)	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 2761221	NM_001347721.2(DYRK1A):c.637+20G>A	DYRK1A	Single nucleotide variant (intron variant)	DYRK1A-related intellectual disability syndrome	GLikely benign

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