ClinVar for Gene (Select 8440) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182290	NM_003581.5(NCK2):c.686A>C (p.Glu229Ala)	NCK2 (E229A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182285	NM_003581.5(NCK2):c.64G>A (p.Asp22Asn)	NCK2 (D22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182274	NM_003581.5(NCK2):c.460A>T (p.Asn154Tyr)	NCK2 (N154Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182270	NM_003581.5(NCK2):c.332A>T (p.Asp111Val)	NCK2 (D111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182266	NM_003581.5(NCK2):c.312C>A (p.Ser104Arg)	NCK2 (S104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062631	GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1	C2orf49, ECRG4 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2591284	NM_003581.5(NCK2):c.746A>G (p.Lys249Arg)	NCK2 (K249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480916	NM_003581.5(NCK2):c.832G>A (p.Gly278Arg)	NCK2 (G278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412061	NM_003581.5(NCK2):c.284C>T (p.Thr95Met)	NCK2 (T95M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392351	NM_003581.5(NCK2):c.767G>A (p.Ser256Asn)	NCK2 (S256N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315718	NM_003581.5(NCK2):c.556G>T (p.Ala186Ser)	NCK2 (A186S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252814	NM_003581.5(NCK2):c.289G>A (p.Ala97Thr)	NCK2 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807589	GRCh37/hg19 2q12.2(chr2:106004892-106422987)x3	FHL2, NCK2	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687770	GRCh37/hg19 2q12.1-12.2(chr2:104816400-106617614)x3	C2orf49, FHL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562648	GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1	TGFBRAP1, NCK2 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 146152	GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3	C2orf49, C2orf49-DT +41 more	Copy number gain	See cases	GBenign
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37