CIAO2A[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 3144872	NM_032231.7(CIAO2A):c.457G>A (p.Glu153Lys)	CIAO2A (E153K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3144871	NM_032231.7(CIAO2A):c.452T>C (p.Ile151Thr)	CIAO2A (I151T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3267301	NM_032231.7(CIAO2A):c.445C>T (p.Arg149Trp)	CIAO2A (R149W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2495018	NM_032231.7(CIAO2A):c.313C>G (p.Gln105Glu)	CIAO2A (Q105E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144869	NM_032231.7(CIAO2A):c.262C>T (p.Pro88Ser)	CIAO2A (P88S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144868	NM_032231.7(CIAO2A):c.241A>G (p.Ile81Val)	CIAO2A (I81V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543741	NM_032231.7(CIAO2A):c.143G>A (p.Arg48Gln)	CIAO2A (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589521	NM_032231.7(CIAO2A):c.142C>T (p.Arg48Trp)	CIAO2A (R48W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144866	NM_032231.7(CIAO2A):c.137C>G (p.Thr46Ser)	CIAO2A (T46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604013	NM_032231.7(CIAO2A):c.128T>C (p.Leu43Ser)	CIAO2A (L43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144874	NM_032231.7(CIAO2A):c.47T>G (p.Leu16Arg)	CIAO2A, LOC130057262 (L16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144870	NM_032231.7(CIAO2A):c.28T>G (p.Trp10Gly)	CIAO2A, LOC130057262 (W10G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546031	NM_032231.7(CIAO2A):c.23T>C (p.Leu8Pro)	CIAO2A, LOC130057262 (L8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474793	NM_032231.7(CIAO2A):c.16G>C (p.Gly6Arg)	CIAO2A, LOC130057262 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

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Items: 24