ClinVar for Gene (Select 5578) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3218757	NM_002737.3(PRKCA):c.823T>C (p.Tyr275His)	PRKCA (Y275H)	Single nucleotide variant (missense variant)	not specified	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 3218755	NM_002737.3(PRKCA):c.556A>G (p.Met186Val)	PRKCA (M186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3060914	NM_002737.3(PRKCA):c.1779G>A (p.Glu593=)	PRKCA	Single nucleotide variant (synonymous variant)	PRKCA-related disorder	GBenign
Select item 3056232	NM_002737.3(PRKCA):c.-4dup	PRKCA	Duplication (5 prime UTR variant)	PRKCA-related disorder	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 3046735	NM_002737.3(PRKCA):c.279C>T (p.Pro93=)	PRKCA	Single nucleotide variant (synonymous variant)	PRKCA-related disorder	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 2569493	NM_002737.3(PRKCA):c.106G>A (p.Asp36Asn)	PRKCA (D36N)	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 2512746	NM_002737.3(PRKCA):c.815G>C (p.Ser272Thr)	PRKCA (S272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2390387	NM_002737.3(PRKCA):c.1576G>A (p.Val526Ile)	PRKCA (V526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2233870	NM_002737.3(PRKCA):c.388A>G (p.Met130Val)	PRKCA (M130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1343263	NM_002737.3(PRKCA):c.1402A>G (p.Asn468Asp)	PRKCA (N468D)	Single nucleotide variant (missense variant)	not provided	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 980726	GRCh37/hg19 17q24.2(chr17:64616234-64764945)x1	PRKCA	Copy number loss	not provided	GUncertain significance
Select item 799737	NM_002737.3(PRKCA):c.978A>G (p.Gln326=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790185	NM_002737.3(PRKCA):c.837C>T (p.Asn279=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777893	NM_002737.3(PRKCA):c.1702= (p.Val568=)	PRKCA	Variation (no sequence alteration)	not provided	GBenign
Select item 777213	NM_002737.3(PRKCA):c.1906G>A (p.Val636Ile)	PRKCA (V636I)	Single nucleotide variant (missense variant)	PRKCA-related disorder +1 more	GLikely benign
Select item 756201	NM_002737.3(PRKCA):c.1404C>T (p.Asn468=)	PRKCA	Single nucleotide variant (synonymous 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 740380	NM_002737.3(PRKCA):c.1905C>G (p.Pro635=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739579	NM_002737.3(PRKCA):c.1263C>T (p.Asn421=)	PRKCA	Single nucleotide variant (synonymous 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 733959	NM_002737.3(PRKCA):c.405C>T (p.Cys135=)	LOC126862621, PRKCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730876	NM_002737.3(PRKCA):c.1606-8C>T	PRKCA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726604	NM_002737.3(PRKCA):c.1713+8G>A	PRKCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720888	NM_002737.3(PRKCA):c.969C>T (p.Asp323=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 707964	NM_002737.3(PRKCA):c.387G>A (p.Gly129=)	PRKCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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
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 157400	Single allele	LOC112533660, LOC121852945 +7 more	Deletion	Small for gestational age	Gnot provided
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 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 148350	GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1	LOC121852945, LOC125316774 +9 more	Copy number loss	See cases	GUncertain significance
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 54