3094[HGNC] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3274228	NM_003582.4(DYRK3):c.130C>G (p.Pro44Ala)	DYRK3 (P24A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358836	NM_003582.4(DYRK3):c.131C>T (p.Pro44Leu)	DYRK3 (P44L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222575	NM_003582.4(DYRK3):c.203A>G (p.Gln68Arg)	DYRK3 (Q68R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086617	NM_003582.4(DYRK3):c.247A>T (p.Met83Leu)	DYRK3 (M63L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282409	NM_003582.4(DYRK3):c.358A>C (p.Ser120Arg)	DYRK3 (S120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559769	NM_003582.4(DYRK3):c.379G>A (p.Val127Ile)	DYRK3 (V127I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274229	NM_003582.4(DYRK3):c.386C>T (p.Ser129Phe)	DYRK3 (S109F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362989	NM_003582.4(DYRK3):c.557A>G (p.Asn186Ser)	DYRK3 (N186S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274233	NM_003582.4(DYRK3):c.574G>A (p.Asp192Asn)	DYRK3 (D192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273135	NM_003582.4(DYRK3):c.580G>T (p.Asp194Tyr)	DYRK3 (D194Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086618	NM_003582.4(DYRK3):c.717G>T (p.Met239Ile)	DYRK3 (M219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086619	NM_003582.4(DYRK3):c.742C>T (p.Arg248Cys)	DYRK3 (R228C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589229	NM_003582.4(DYRK3):c.764G>A (p.Arg255Gln)	DYRK3 (R255Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301237	NM_003582.4(DYRK3):c.790G>A (p.Asp264Asn)	DYRK3 (D244N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553765	NM_003582.4(DYRK3):c.793A>G (p.Lys265Glu)	DYRK3 (K245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274231	NM_003582.4(DYRK3):c.820A>T (p.Met274Leu)	DYRK3 (M254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086620	NM_003582.4(DYRK3):c.827A>G (p.Glu276Gly)	DYRK3 (E276G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234451	NM_003582.4(DYRK3):c.837A>T (p.Thr279=)	DYRK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512133	NM_003582.4(DYRK3):c.905A>G (p.Asn302Ser)	DYRK3 (N302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404681	NM_003582.4(DYRK3):c.937C>T (p.Arg313Cys)	DYRK3 (R313C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251772	NM_003582.4(DYRK3):c.1073C>T (p.Ser358Phe)	DYRK3 (S358F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225622	NM_003582.4(DYRK3):c.1084G>A (p.Glu362Lys)	DYRK3 (E362K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274235	NM_003582.4(DYRK3):c.1168A>G (p.Ile390Val)	DYRK3 (I370V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524065	NM_003582.4(DYRK3):c.1177T>C (p.Trp393Arg)	DYRK3 (W373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521062	NM_003582.4(DYRK3):c.1409G>A (p.Arg470His)	DYRK3 (R450H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274234	NM_003582.4(DYRK3):c.1424G>C (p.Arg475Pro)	DYRK3 (R455P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485586	NM_003582.4(DYRK3):c.1525G>T (p.Ala509Ser)	DYRK3 (A509S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086615	NM_003582.4(DYRK3):c.1528C>T (p.Arg510Cys)	DYRK3 (R510C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274230	NM_003582.4(DYRK3):c.1541C>G (p.Ala514Gly)	DYRK3 (A514G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392282	NM_003582.4(DYRK3):c.1601A>G (p.Asp534Gly)	DYRK3 (D514G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086616	NM_003582.4(DYRK3):c.1709T>C (p.Met570Thr)	DYRK3 (M550T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 49