ClinVar for Gene (Select 5581) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218771	NM_005400.3(PRKCE):c.449G>A (p.Arg150His)	PRKCE (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218770	NM_005400.3(PRKCE):c.1461A>T (p.Glu487Asp)	PRKCE (E487D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2819482	NM_005400.3(PRKCE):c.373_389del (p.Val125fs)	PRKCE (V125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2650870	NM_005400.3(PRKCE):c.1529G>A (p.Arg510Gln)	PRKCE (R510Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650869	NM_005400.3(PRKCE):c.966+8G>A	PRKCE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2596079	NM_005400.3(PRKCE):c.1535A>G (p.Tyr512Cys)	PRKCE (Y512C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540209	NM_005400.3(PRKCE):c.1893C>A (p.Ser631Arg)	PRKCE (S631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511406	NM_005400.3(PRKCE):c.1166C>G (p.Pro389Arg)	LOC126806207, PRKCE (P389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484220	NM_005400.3(PRKCE):c.1204C>T (p.Arg402Cys)	LOC126806207, PRKCE (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479555	NM_005400.3(PRKCE):c.7G>C (p.Val3Leu)	PRKCE (V3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2395901	NM_005400.3(PRKCE):c.1519C>A (p.Pro507Thr)	PRKCE (P507T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336681	NM_005400.3(PRKCE):c.1106T>A (p.Phe369Tyr)	LOC126806207, PRKCE (F369Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283297	NM_005400.3(PRKCE):c.1081A>G (p.Asn361Asp)	LOC126806207, PRKCE (N361D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253497	NM_005400.3(PRKCE):c.1151G>C (p.Gly384Ala)	LOC126806207, PRKCE (G384A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252173	NM_005400.3(PRKCE):c.1094A>C (p.Lys365Thr)	LOC126806207, PRKCE (K365T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238878	NM_005400.3(PRKCE):c.736G>A (p.Gly246Ser)	PRKCE (G246S)	Single nucleotide variant (missense variant)	not specified	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 1526541	GRCh37/hg19 2p21(chr2:45899044-46739157)	ATP6V1E2, EPAS1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526529	GRCh37/hg19 2p21(chr2:45421555-45976420)	PRKCE, SRBD1	Copy number gain	not specified	GUncertain significance
Select item 1180434	NC_000002.12:g.46009609_46144092dup	LOC126806208, LOC126806209 +2 more	Duplication	not specified	Gnot provided
Select item 979356	GRCh37/hg19 2p21(chr2:45917633-46584622)x3	EPAS1, PRKCE	Copy number gain	not provided	GUncertain significance
Select item 931705	NM_005400.3(PRKCE):c.1533C>G (p.Phe511Leu)	PRKCE (F511L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 795885	NM_005400.3(PRKCE):c.466C>A (p.Arg156=)	PRKCE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780348	NM_005400.3(PRKCE):c.1960G>A (p.Ala654Thr)	PRKCE (A654T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771697	NM_005400.3(PRKCE):c.1311G>A (p.Lys437=)	PRKCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770339	NM_005400.3(PRKCE):c.1104A>G (p.Ser368=)	LOC126806207, PRKCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720098	NM_005400.3(PRKCE):c.1365A>G (p.Thr455=)	PRKCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685358	GRCh37/hg19 2p21(chr2:45412845-45976452)x3	PRKCE, SRBD1	Copy number gain	not provided	GUncertain significance
Select item 685343	GRCh37/hg19 2p21(chr2:45404085-45975214)x3	PRKCE, SRBD1	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562597	GRCh37/hg19 2p21(chr2:45408934-45976420)x3	SRBD1, PRKCE	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 453227	NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys)	PRKCE (E599K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 446355	GRCh37/hg19 2p21(chr2:45409988-45968987)x3	PRKCE, SRBD1	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 429039	NC_000002.11:g.38121110_47669522inv	CALM2, CAMKMT +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 152534	GRCh38/hg38 2p21(chr2:45192069-45734384)x3	LINC01121, LOC112840936 +13 more	Copy number gain	See cases	GLikely benign
Select item 151412	GRCh38/hg38 2p21(chr2:45253291-45851241)x3	LINC01121, LOC112840936 +21 more	Copy number gain	See cases	GLikely benign
Select item 149929	GRCh38/hg38 2p21(chr2:46083824-46395464)x3	EPAS1, LINC01820 +11 more	Copy number gain	See cases	GUncertain significance
Select item 149908	GRCh38/hg38 2p21(chr2:45273355-45734463)x3	LOC112840936, LOC122757931 +12 more	Copy number gain	See cases	GLikely benign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49