DYRK1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3358288	NM_004714.3(DYRK1B):c.*9C>T	DYRK1B	Single nucleotide variant (3 prime UTR variant)	DYRK1B-related disorder	GLikely benign
Select item 435015	NM_004714.3(DYRK1B):c.*9C>G	DYRK1B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3030799	NM_004714.3(DYRK1B):c.*8C>G	DYRK1B	Single nucleotide variant (3 prime UTR variant)	DYRK1B-related disorder	GLikely benign
Select item 3348746	NM_004714.3(DYRK1B):c.1883G>A (p.Ser628Asn)	DYRK1B (S588N +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3349754	NM_004714.3(DYRK1B):c.1860T>C (p.Gly620=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2536055	NM_004714.3(DYRK1B):c.1855C>T (p.Arg619Cys)	DYRK1B (R579C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237864	NM_004714.3(DYRK1B):c.1850G>A (p.Gly617Asp)	DYRK1B (G589D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631834	NM_004714.3(DYRK1B):c.1840C>A (p.Pro614Thr)	DYRK1B (P574T +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3039127	NM_004714.3(DYRK1B):c.1839G>T (p.Gly613=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3044298	NM_004714.3(DYRK1B):c.1827T>G (p.Pro609=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2188919	NM_004714.3(DYRK1B):c.1826C>T (p.Pro609Leu)	DYRK1B (P609L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3354130	NM_004714.3(DYRK1B):c.1824C>T (p.Asp608=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2632859	NM_004714.3(DYRK1B):c.1814C>G (p.Pro605Arg)	DYRK1B (P565R +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3352545	NM_004714.3(DYRK1B):c.1812G>A (p.Pro604=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2770675	NM_004714.3(DYRK1B):c.1812G>T (p.Pro604=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242133	NM_004714.3(DYRK1B):c.1811C>T (p.Pro604Leu)	DYRK1B (P564L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3356390	NM_004714.3(DYRK1B):c.1810C>G (p.Pro604Ala)	DYRK1B (P564A +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3054944	NM_004714.3(DYRK1B):c.1797T>C (p.Gly599=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3035214	NM_004714.3(DYRK1B):c.1784G>A (p.Arg595Gln)	DYRK1B (R555Q +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GLikely benign
Select item 3042636	NM_004714.3(DYRK1B):c.1783C>T (p.Arg595Trp)	DYRK1B (R555W +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GLikely benign
Select item 1384325	NM_004714.3(DYRK1B):c.1778G>A (p.Arg593Gln)	DYRK1B (R593Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629937	NM_004714.3(DYRK1B):c.1777C>T (p.Arg593Trp)	DYRK1B (R553W +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3348240	NM_004714.3(DYRK1B):c.1769C>T (p.Ser590Leu)	DYRK1B (S550L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3352100	NM_004714.3(DYRK1B):c.1761G>A (p.Pro587=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2410876	NM_004714.3(DYRK1B):c.1760C>T (p.Pro587Leu)	DYRK1B (P587L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3358039	NM_004714.3(DYRK1B):c.1753dup (p.Gln585fs)	DYRK1B (Q545fs +2 more)	Duplication (frameshift variant)	DYRK1B-related disorder	GUncertain significance
Select item 3086602	NM_004714.3(DYRK1B):c.1754A>G (p.Gln585Arg)	DYRK1B (Q585R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584637	NM_004714.3(DYRK1B):c.1748C>T (p.Ala583Val)	DYRK1B (A543V +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 3350594	NM_004714.3(DYRK1B):c.1743G>A (p.Ala581=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3355256	NM_004714.3(DYRK1B):c.1742C>T (p.Ala581Val)	DYRK1B (A541V +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3352318	NM_004714.3(DYRK1B):c.1738C>T (p.Pro580Ser)	DYRK1B (P540S +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3349681	NM_004714.3(DYRK1B):c.1734T>C (p.Pro578=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3037972	NM_004714.3(DYRK1B):c.1733C>T (p.Pro578Leu)	DYRK1B (P538L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GLikely benign
Select item 1338689	NM_004714.3(DYRK1B):c.1732C>T (p.Pro578Ser)	DYRK1B (P538S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3358302	NM_004714.3(DYRK1B):c.1731A>G (p.Pro577=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2441087	NM_004714.3(DYRK1B):c.1729C>T (p.Pro577Ser)	DYRK1B (P537S +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 3346671	NM_004714.3(DYRK1B):c.1726T>C (p.Ser576Pro)	DYRK1B (S536P +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 2634671	NM_004714.3(DYRK1B):c.1718C>G (p.Ala573Gly)	DYRK1B (A533G +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3352227	NM_004714.3(DYRK1B):c.1715C>T (p.Pro572Leu)	DYRK1B (P532L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3347870	NM_004714.3(DYRK1B):c.1697T>C (p.Val566Ala)	DYRK1B (V526A +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 2781163	NM_004714.3(DYRK1B):c.1695T>A (p.Asp565Glu)	DYRK1B (D525E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350340	NM_004714.3(DYRK1B):c.1690A>T (p.Met564Leu)	DYRK1B (M524L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3025491	NM_004714.3(DYRK1B):c.1683G>C (p.Pro561=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895734	NM_004714.3(DYRK1B):c.1683G>A (p.Pro561=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352364	NM_004714.3(DYRK1B):c.1678C>T (p.Pro560Ser)	DYRK1B (P520S +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3350656	NM_004714.3(DYRK1B):c.1675C>T (p.Pro559Ser)	DYRK1B (P519S +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3356556	NM_004714.3(DYRK1B):c.1670C>T (p.Ser557Leu)	DYRK1B (S517L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 2634126	NM_004714.3(DYRK1B):c.1666A>C (p.Thr556Pro)	DYRK1B (T516P +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 435018	NM_004714.3(DYRK1B):c.1663C>G (p.Pro555Ala)	DYRK1B (P555A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351983	NM_004714.3(DYRK1B):c.1659A>G (p.Pro553=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3356807	NM_004714.3(DYRK1B):c.1652G>A (p.Arg551His)	DYRK1B (R511H +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 2554570	NM_004714.3(DYRK1B):c.1652G>C (p.Arg551Pro)	DYRK1B (R551P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350897	NM_004714.3(DYRK1B):c.1651C>T (p.Arg551Cys)	DYRK1B (R511C +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 435016	NM_004714.3(DYRK1B):c.1641A>C (p.Arg547=)	DYRK1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2665009	NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln)	DYRK1B (R507Q +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 3350253	NM_004714.3(DYRK1B):c.1633del (p.Gln545fs)	DYRK1B (Q505fs +2 more)	Deletion (frameshift variant)	DYRK1B-related disorder	GUncertain significance
Select item 2302521	NM_004714.3(DYRK1B):c.1631C>T (p.Pro544Leu)	DYRK1B (P516L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1924285	NM_004714.3(DYRK1B):c.1627C>G (p.Pro543Ala)	DYRK1B (P503A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803864	NM_004714.3(DYRK1B):c.1627C>T (p.Pro543Ser)	DYRK1B (P503S +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 2235973	NM_004714.3(DYRK1B):c.1625T>C (p.Leu542Ser)	DYRK1B (L514S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288480	NM_004714.3(DYRK1B):c.1622A>G (p.Gln541Arg)	DYRK1B (Q513R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033470	NM_004714.3(DYRK1B):c.1614C>T (p.Thr538=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3358348	NM_004714.3(DYRK1B):c.1613C>G (p.Thr538Ser)	DYRK1B (T498S +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3357219	NM_004714.3(DYRK1B):c.1599G>C (p.Ser533=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3357700	NM_004714.3(DYRK1B):c.1586C>A (p.Pro529His)	DYRK1B (P489H +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3274222	NM_004714.3(DYRK1B):c.1586C>T (p.Pro529Leu)	DYRK1B (P489L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3344259	NM_004714.3(DYRK1B):c.1585C>T (p.Pro529Ser)	DYRK1B (P489S +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3353762	NM_004714.3(DYRK1B):c.1583C>A (p.Ala528Asp)	DYRK1B (A488D +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3030878	NM_004714.3(DYRK1B):c.1578T>C (p.His526=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2281223	NM_004714.3(DYRK1B):c.1569C>G (p.His523Gln)	DYRK1B (H495Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041682	NM_004714.3(DYRK1B):c.1566C>T (p.Pro522=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3357066	NM_004714.3(DYRK1B):c.1563G>A (p.Val521=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3358759	NM_004714.3(DYRK1B):c.1556G>A (p.Gly519Asp)	DYRK1B (G479D +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3355202	NM_004714.3(DYRK1B):c.1556G>T (p.Gly519Val)	DYRK1B (G479V +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 1029888	NM_004714.3(DYRK1B):c.1541G>A (p.Arg514Gln)	DYRK1B (R474Q +2 more)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 3	GUncertain significance
Select item 2965754	NM_004714.3(DYRK1B):c.1535C>T (p.Pro512Leu)	DYRK1B (P472L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634219	NM_004714.3(DYRK1B):c.1528_1531del (p.Gln511fs)	DYRK1B (Q471fs +2 more)	Deletion (frameshift variant)	DYRK1B-related disorder	GUncertain significance
Select item 3358594	NM_004714.3(DYRK1B):c.1526C>T (p.Pro509Leu)	DYRK1B (P469L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 773606	NM_004714.3(DYRK1B):c.1521C>T (p.Val507=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3347378	NM_004714.3(DYRK1B):c.1518+9G>A	DYRK1B	Single nucleotide variant (intron variant)	DYRK1B-related disorder	GLikely benign
Select item 2709749	NM_004714.3(DYRK1B):c.1512C>T (p.Ser504=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725964	NM_004714.3(DYRK1B):c.1503G>A (p.Glu501=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797371	NM_004714.3(DYRK1B):c.1485C>T (p.Pro495=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634171	NM_004714.3(DYRK1B):c.1484C>T (p.Pro495Leu)	DYRK1B (P455L +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3350536	NM_004714.3(DYRK1B):c.1479T>A (p.Pro493=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 2615956	NM_004714.3(DYRK1B):c.1474G>A (p.Gly492Ser)	DYRK1B (G452S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633305	NM_004714.3(DYRK1B):c.1463G>A (p.Arg488Gln)	DYRK1B (R448Q +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 1049522	NM_004714.3(DYRK1B):c.1450C>T (p.Arg484Cys)	DYRK1B (R444C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344138	NM_004714.3(DYRK1B):c.1446C>G (p.Thr482=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3345622	NM_004714.3(DYRK1B):c.1442G>A (p.Arg481Gln)	DYRK1B (R441Q +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 3358231	NM_004714.3(DYRK1B):c.1438A>G (p.Asn480Asp)	DYRK1B (N440D +2 more)	Single nucleotide variant (missense variant)	DYRK1B-related disorder	GUncertain significance
Select item 2904091	NM_004714.3(DYRK1B):c.1416C>T (p.Gly472=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963508	NM_004714.3(DYRK1B):c.1411+12G>A	DYRK1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3346795	NM_004714.3(DYRK1B):c.1411+9C>T	DYRK1B	Single nucleotide variant (intron variant)	DYRK1B-related disorder	GLikely benign
Select item 3031494	NM_004714.3(DYRK1B):c.1404C>T (p.Ser468=)	DYRK1B	Single nucleotide variant (synonymous variant)	DYRK1B-related disorder	GLikely benign
Select item 3013090	NM_004714.3(DYRK1B):c.1403C>G (p.Ser468Cys)	DYRK1B (S428C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762925	NM_004714.3(DYRK1B):c.1392C>G (p.Ala464=)	DYRK1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728555	NM_004714.3(DYRK1B):c.1386C>G (p.Ser462Arg)	DYRK1B (S422R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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