PRKCB[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 2373567	NM_002738.7(PRKCB):c.16G>A (p.Ala6Thr)	PRKCB (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210502	NM_002738.7(PRKCB):c.41A>T (p.Glu14Val)	PRKCB (E14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735257	NM_002738.7(PRKCB):c.87G>A (p.Lys29=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2559026	NM_002738.7(PRKCB):c.95A>T (p.His32Leu)	PRKCB (H32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218760	NM_002738.7(PRKCB):c.140C>T (p.Pro47Leu)	PRKCB (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744416	NM_002738.7(PRKCB):c.162C>T (p.Thr54=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 224499	NM_002738.7(PRKCB):c.275G>T (p.Gly92Val)	PRKCB (G92V)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment	GPathogenic
Select item 3309987	NM_002738.7(PRKCB):c.286G>T (p.Asp96Tyr)	PRKCB (D96Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375094	NM_002738.7(PRKCB):c.323C>T (p.Thr108Met)	PRKCB (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248654	NM_002738.7(PRKCB):c.406A>G (p.Met136Val)	PRKCB (M136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548138	NM_002738.7(PRKCB):c.505G>A (p.Asp169Asn)	PRKCB (D169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646331	NM_002738.7(PRKCB):c.513C>T (p.Asp171=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779163	NM_002738.7(PRKCB):c.522T>C (p.Ile174=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3055721	NM_002738.7(PRKCB):c.606C>T (p.Pro202=)	PRKCB	Single nucleotide variant (synonymous variant)	PRKCB-related disorder	GBenign
Select item 739576	NM_002738.7(PRKCB):c.702G>A (p.Ser234=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3354897	NM_002738.7(PRKCB):c.714A>G (p.Arg238=)	PRKCB	Single nucleotide variant (synonymous variant)	PRKCB-related disorder	GBenign
Select item 3049670	NM_002738.7(PRKCB):c.893A>G (p.Asn298Ser)	PRKCB (N298S)	Single nucleotide variant (missense variant)	PRKCB-related disorder	GLikely benign
Select item 2512544	NM_002738.7(PRKCB):c.950C>T (p.Pro317Leu)	PRKCB (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218763	NM_002738.7(PRKCB):c.980A>G (p.Lys327Arg)	PRKCB (K327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045104	NM_002738.7(PRKCB):c.981A>G (p.Lys327=)	PRKCB	Single nucleotide variant (synonymous variant)	PRKCB-related disorder	GLikely benign
Select item 2570935	NM_002738.7(PRKCB):c.995G>C (p.Gly332Ala)	PRKCB (G332A)	Single nucleotide variant (missense variant)	PRKCB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2323501	NM_002738.7(PRKCB):c.1007G>A (p.Arg336Gln)	PRKCB (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356712	NM_002738.7(PRKCB):c.1018A>C (p.Thr340Pro)	PRKCB (T340P)	Single nucleotide variant (missense variant)	PRKCB-related disorder	GUncertain significance
Select item 2490411	NM_002738.7(PRKCB):c.1051G>A (p.Gly351Ser)	PRKCB (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362699	NM_002738.7(PRKCB):c.1150G>A (p.Val384Met)	PRKCB (V384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615202	NM_002738.7(PRKCB):c.1175G>A (p.Arg392Gln)	PRKCB (R392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224996	NM_002738.7(PRKCB):c.1177G>T (p.Val393Leu)	PRKCB (V393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713010	NM_002738.7(PRKCB):c.1200G>T (p.Pro400=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272634	NM_002738.7(PRKCB):c.1243C>T (p.Arg415Cys)	PRKCB (R415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218758	NM_002738.7(PRKCB):c.1244G>A (p.Arg415His)	PRKCB (R415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055344	NM_002738.7(PRKCB):c.1332-10_1332-9del	PRKCB	Deletion (intron variant)	PRKCB-related disorder	GBenign
Select item 3218759	NM_002738.7(PRKCB):c.1379A>G (p.Lys460Arg)	PRKCB (K460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723694	NM_002738.7(PRKCB):c.1395-4A>G	PRKCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2473065	NM_002738.7(PRKCB):c.1414G>A (p.Val472Met)	PRKCB (V472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761442	NM_002738.7(PRKCB):c.1548G>A (p.Gln516=)	PRKCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218761	NM_002738.7(PRKCB):c.1615G>A (p.Ala539Thr)	PRKCB (A539T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710349	NM_002738.7(PRKCB):c.1723-4G>A	PRKCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2537192	NM_002738.7(PRKCB):c.1727T>C (p.Met576Thr)	PRKCB (M576T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267956	NM_002738.7(PRKCB):c.1949A>G (p.Asn650Ser)	PRKCB (N650S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309985	NM_002738.7(PRKCB):c.1987A>T (p.Asn663Tyr)	PRKCB (N663Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041976	NM_002738.7(PRKCB):c.2007C>T (p.Pro669=)	PRKCB	Single nucleotide variant (synonymous variant +1 more)	PRKCB-related disorder	GLikely benign
Select item 2403281	NM_002738.7(PRKCB):c.2011G>T (p.Val671Phe)	PRKCB (V671F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050094	NM_002738.7(PRKCB):c.*5171C>T	PRKCB	Single nucleotide variant (3 prime UTR variant +1 more)	PRKCB-related disorder	GLikely benign
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564308	GRCh37/hg19 16p12.2-12.1(chr16:23610466-24743657)x1	CACNG3, CHP2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 76