ClinVar for Gene (Select 65061) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265436	NM_001366386.2(CDK15):c.899T>C (p.Phe300Ser)	CDK15 (F300S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265435	NM_001366386.2(CDK15):c.1132G>A (p.Ala378Thr)	CDK15 (A327T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265434	NM_001366386.2(CDK15):c.1025C>T (p.Pro342Leu)	CDK15 (P291L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265433	NM_001366386.2(CDK15):c.1056C>A (p.Asn352Lys)	CDK15 (N352K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141513	NM_001366386.2(CDK15):c.1088T>G (p.Leu363Arg)	CDK15 (L363R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141512	NM_001366386.2(CDK15):c.917T>A (p.Ile306Asn)	CDK15 (I255N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141511	NM_001366386.2(CDK15):c.221G>A (p.Arg74Gln)	CDK15 (R23Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141510	NM_001366386.2(CDK15):c.838G>A (p.Glu280Lys)	CDK15 (E229K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141509	NM_001366386.2(CDK15):c.824C>T (p.Thr275Ile)	CDK15 (T224I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141508	NM_001366386.2(CDK15):c.470A>G (p.Lys157Arg)	CDK15 (K106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141507	NM_001366386.2(CDK15):c.443G>A (p.Arg148Gln)	CDK15 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141506	NM_001366386.2(CDK15):c.1274G>T (p.Gly425Val)	CDK15 (G419V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2536400	NM_001366386.2(CDK15):c.1000T>C (p.Tyr334His)	CDK15 (Y334H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460942	NM_001366386.2(CDK15):c.1126G>A (p.Val376Ile)	CDK15 (V376I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Immunodeficiency, common variable, 1 +1 more	GUncertain significance
Select item 2394828	NM_001366386.2(CDK15):c.424G>A (p.Val142Ile)	CDK15 (V142I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371951	NM_001366386.2(CDK15):c.965A>G (p.Glu322Gly)	CDK15 (E322G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327636	NM_001366386.2(CDK15):c.286C>G (p.Pro96Ala)	CDK15 (P96A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261972	NM_001366386.2(CDK15):c.187G>T (p.Ala63Ser)	CDK15 (A12S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260219	NM_001366386.2(CDK15):c.451T>A (p.Ser151Thr)	CDK15 (S100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239661	NM_001366386.2(CDK15):c.335G>C (p.Gly112Ala)	CDK15 (G112A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214390	NM_001366386.2(CDK15):c.235T>G (p.Cys79Gly)	CDK15 (C28G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213892	NM_001366386.2(CDK15):c.344C>T (p.Ala115Val)	CDK15 (A64V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206853	NM_001366386.2(CDK15):c.1094C>G (p.Ser365Cys)	CDK15 (S314C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1704349	GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3	ALS2, C2CD6 +11 more	Copy number gain	CYSTIC HYGROMA, VSD	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	CARF, NOP58 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	GPathogenic
Select item 1455397	NC_000002.11:g.(?_202566574)_(203424669_?)del	ALS2, BMPR2 +4 more	Deletion	Primary pulmonary hypertension	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979397	GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1	ALS2, C2CD6 +9 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 685484	GRCh37/hg19 2q33.1(chr2:202639314-202680220)x1	ALS2, CDK15	Copy number loss	not provided	GUncertain significance
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 144725	GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3	ALS2, CDK15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 58