PRKCA[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 3056232	NM_002737.3(PRKCA):c.-4dup	PRKCA	Duplication (5 prime UTR variant)	PRKCA-related disorder	GLikely benign
Select item 2569493	NM_002737.3(PRKCA):c.106G>A (p.Asp36Asn)	PRKCA (D36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234636	NM_002737.3(PRKCA):c.107A>G (p.Asp36Gly)	PRKCA (D36G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309984	NM_002737.3(PRKCA):c.108C>G (p.Asp36Glu)	PRKCA (D36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157400	Single allele	LOC112533660, LOC121852945 +7 more	Deletion	Small for gestational age	Gnot provided
Select item 157401	NM_002737.2(PRKCA):c.206-81404_206-10168del	LOC125316774, LOC125316775 +5 more	Deletion	Large for gestational age	Gnot provided
Select item 148350	GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1	LOC121852945, LOC125316774 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3046735	NM_002737.3(PRKCA):c.279C>T (p.Pro93=)	PRKCA	Single nucleotide variant (synonymous variant)	PRKCA-related disorder	GLikely benign
Select item 3344846	NM_002737.3(PRKCA):c.288T>A (p.Asp96Glu)	PRKCA (D96E)	Single nucleotide variant (missense variant)	PRKCA-related disorder	GUncertain significance
Select item 707964	NM_002737.3(PRKCA):c.387G>A (p.Gly129=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233870	NM_002737.3(PRKCA):c.388A>G (p.Met130Val)	PRKCA (M130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733959	NM_002737.3(PRKCA):c.405C>T (p.Cys135=)	LOC126862621, PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050837	NM_002737.3(PRKCA):c.408T>C (p.Asp136=)	LOC126862621, PRKCA	Single nucleotide variant (synonymous variant)	PRKCA-related disorder	GLikely benign
Select item 2479364	NM_002737.3(PRKCA):c.484A>G (p.Ile162Val)	LOC126862621, PRKCA (I162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218755	NM_002737.3(PRKCA):c.556A>G (p.Met186Val)	PRKCA (M186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545756	NM_002737.3(PRKCA):c.608A>G (p.Asp203Gly)	PRKCA (D203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531381	NM_002737.3(PRKCA):c.662C>T (p.Pro221Leu)	PRKCA (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347647	NM_002737.3(PRKCA):c.770del (p.Gly257fs)	PRKCA (G257fs)	Deletion (frameshift variant)	PRKCA-related disorder	GUncertain significance
Select item 3218756	NM_002737.3(PRKCA):c.799A>T (p.Met267Leu)	PRKCA (M267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512746	NM_002737.3(PRKCA):c.815G>C (p.Ser272Thr)	PRKCA (S272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218757	NM_002737.3(PRKCA):c.823T>C (p.Tyr275His)	PRKCA (Y275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1295165	NM_002737.3(PRKCA):c.831G>A (p.Leu277=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790185	NM_002737.3(PRKCA):c.837C>T (p.Asn279=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2297294	NM_002737.3(PRKCA):c.862G>A (p.Val288Ile)	PRKCA (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720888	NM_002737.3(PRKCA):c.969C>T (p.Asp323=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799737	NM_002737.3(PRKCA):c.978A>G (p.Gln326=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309983	NM_002737.3(PRKCA):c.998G>A (p.Arg333Gln)	PRKCA (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739579	NM_002737.3(PRKCA):c.1263C>T (p.Asn421=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218754	NM_002737.3(PRKCA):c.1373G>C (p.Gly458Ala)	PRKCA (G458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343263	NM_002737.3(PRKCA):c.1402A>G (p.Asn468Asp)	PRKCA (N468D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756201	NM_002737.3(PRKCA):c.1404C>T (p.Asn468=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648113	NM_002737.3(PRKCA):c.1465A>G (p.Met489Val)	PRKCA (M489V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2390387	NM_002737.3(PRKCA):c.1576G>A (p.Val526Ile)	PRKCA (V526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730876	NM_002737.3(PRKCA):c.1606-8C>T	PRKCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734973	NM_002737.3(PRKCA):c.1671T>C (p.Tyr557=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777893	NM_002737.3(PRKCA):c.1702= (p.Val568=)	PRKCA	Variation (no sequence alteration)	not provided	GBenign
Select item 726604	NM_002737.3(PRKCA):c.1713+8G>A	PRKCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060914	NM_002737.3(PRKCA):c.1779G>A (p.Glu593=)	PRKCA	Single nucleotide variant (synonymous variant)	PRKCA-related disorder	GBenign
Select item 740380	NM_002737.3(PRKCA):c.1905C>G (p.Pro635=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777213	NM_002737.3(PRKCA):c.1906G>A (p.Val636Ile)	PRKCA (V636I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743376	NM_002737.3(PRKCA):c.1971G>A (p.Ser657=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1809209	GRCh37/hg19 17q24.2(chr17:64561748-64659111)x1	PRKCA	Copy number loss	not provided	GUncertain significance
Select item 1526583	GRCh37/hg19 17q24.1-24.2(chr17:63764889-64931712)	APOH, CACNG5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 980726	GRCh37/hg19 17q24.2(chr17:64616234-64764945)x1	PRKCA	Copy number loss	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685353	GRCh37/hg19 17q24.2(chr17:64582010-64733650)x1	PRKCA	Copy number loss	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 638095	GRCh37/hg19 17q24.1-24.2(chr17:64094511-64805553)x3	APOH, CEP112 +1 more	Copy number gain	See cases	GUncertain significance
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 564462	GRCh37/hg19 17q24.1-24.2(chr17:63623939-64633308)x3	APOH, PRKCA +1 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 58