CORO2B[gene] - ClinVar

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Items: 52

	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 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic
Select item 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 2225981	NM_006091.5(CORO2B):c.26G>A (p.Arg9His)	CORO2B (R4H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341290	NM_006091.5(CORO2B):c.29C>T (p.Pro10Leu)	CORO2B (P10L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528962	NM_006091.5(CORO2B):c.96T>A (p.Asp32Glu)	CORO2B (D32E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390290	NM_006091.5(CORO2B):c.152G>A (p.Arg51His)	CORO2B (R46H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076402	NM_006091.5(CORO2B):c.178G>A (p.Ala60Thr)	CORO2B (A55T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645490	NM_006091.5(CORO2B):c.186C>T (p.Gly62=)	CORO2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076403	NM_006091.5(CORO2B):c.199G>A (p.Val67Ile)	CORO2B (V67I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269032	NM_006091.5(CORO2B):c.230A>C (p.Glu77Ala)	CORO2B (E77A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076404	NM_006091.5(CORO2B):c.305T>C (p.Ile102Thr)	CORO2B (I102T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076405	NM_006091.5(CORO2B):c.344G>T (p.Trp115Leu)	CORO2B (W110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540904	NM_006091.5(CORO2B):c.355G>A (p.Glu119Lys)	CORO2B (E114K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076406	NM_006091.5(CORO2B):c.358G>T (p.Gly120Cys)	CORO2B (G115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300151	NM_006091.5(CORO2B):c.371G>A (p.Arg124Gln)	CORO2B (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528773	NM_006091.5(CORO2B):c.435G>T (p.Trp145Cys)	CORO2B (W140C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335549	NM_006091.5(CORO2B):c.438C>A (p.His146Gln)	CORO2B (H141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329407	NM_006091.5(CORO2B):c.539C>T (p.Thr180Met)	CORO2B (T180M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645491	NM_006091.5(CORO2B):c.540G>A (p.Thr180=)	CORO2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645492	NM_006091.5(CORO2B):c.581T>A (p.Leu194Gln)	CORO2B (L189Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3076407	NM_006091.5(CORO2B):c.638G>A (p.Arg213His)	CORO2B (R213H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305555	NM_006091.5(CORO2B):c.707G>A (p.Arg236Gln)	CORO2B (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605053	NM_006091.5(CORO2B):c.721G>C (p.Gly241Arg)	CORO2B (G236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558000	NM_006091.5(CORO2B):c.731G>C (p.Arg244Thr)	CORO2B (R239T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325058	NM_006091.5(CORO2B):c.835G>T (p.Asp279Tyr)	CORO2B (D274Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204362	NM_006091.5(CORO2B):c.932T>C (p.Met311Thr)	CORO2B (M306T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613806	NM_006091.5(CORO2B):c.1025A>G (p.Lys342Arg)	CORO2B (K337R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482906	NM_006091.5(CORO2B):c.1076G>A (p.Arg359Gln)	CORO2B (R354Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076396	NM_006091.5(CORO2B):c.1156G>C (p.Gly386Arg)	CORO2B (G381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076397	NM_006091.5(CORO2B):c.1159G>A (p.Gly387Ser)	CORO2B (G382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269031	NM_006091.5(CORO2B):c.1254T>G (p.Ser418Arg)	CORO2B (S418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076398	NM_006091.5(CORO2B):c.1274A>G (p.Asp425Gly)	CORO2B (D420G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076399	NM_006091.5(CORO2B):c.1330C>T (p.Arg444Trp)	CORO2B (R439W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288551	NM_006091.5(CORO2B):c.1385G>A (p.Arg462His)	CORO2B (R457H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076400	NM_006091.5(CORO2B):c.1390C>T (p.Arg464Trp)	CORO2B (R464W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514885	NM_006091.5(CORO2B):c.1429C>A (p.Pro477Thr)	CORO2B (P472T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076401	NM_006091.5(CORO2B):c.1436A>T (p.Asn479Ile)	CORO2B (N479I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1809384	GRCh37/hg19 15q23(chr15:68807665-70981473)x3	ANP32A, CORO2B +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808891	GRCh37/hg19 15q23(chr15:68593993-69070537)x3	CORO2B, ITGA11	Copy number gain	not provided	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
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
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 52