9380[HGNC] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 2672233	NM_002730.4(PRKACA):c.1022A>G (p.Asn341Ser)	PRKACA (N333S +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 2649411	NM_002730.4(PRKACA):c.996G>A (p.Glu332=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287087	NM_002730.4(PRKACA):c.879G>T (p.Lys293Asn)	PRKACA (K369N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065085	NM_002730.4(PRKACA):c.875T>C (p.Ile292Thr)	PRKACA (I284T +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 741657	NM_002730.4(PRKACA):c.870C>T (p.Asn290=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237913	NM_002730.4(PRKACA):c.859A>G (p.Asn287Asp)	PRKACA (N287D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768975	NM_002730.4(PRKACA):c.843C>G (p.Arg281=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2649412	NM_002730.4(PRKACA):c.811C>T (p.Arg271Trp)	PRKACA (R263W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541259	NM_002730.4(PRKACA):c.790T>C (p.Ser264Pro)	PRKACA (S264P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040944	NM_002730.4(PRKACA):c.753C>T (p.Ile251=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related disorder	GLikely benign
Select item 3038163	NM_002730.4(PRKACA):c.732C>T (p.Pro244=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related disorder	GLikely benign
Select item 755149	NM_002730.4(PRKACA):c.711G>A (p.Pro237=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2435242	NM_002730.4(PRKACA):c.627G>T (p.Glu209Asp)	PRKACA (E201D +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 737730	NM_002730.4(PRKACA):c.624T>G (p.Pro208=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 91945	NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)	PRKACA (L206R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2649413	NM_002730.4(PRKACA):c.600C>T (p.Cys200=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162471	NM_002730.4(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp)	PRKACA	Duplication (inframe_insertion)	Pigmented nodular adrenocortical disease, primary, 4	GPathogenic
Select item 2332237	NM_002730.4(PRKACA):c.591G>T (p.Trp197Cys)	PRKACA (W197C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797699	NM_002730.4(PRKACA):c.540C>T (p.Tyr180=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218708	NM_002730.4(PRKACA):c.532C>A (p.Gln178Lys)	PRKACA (Q254K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 989460	NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)	PRKACA (G137R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 731258	NM_002730.4(PRKACA):c.381G>A (p.Gly127=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739600	NM_002730.4(PRKACA):c.337-9T>C	PRKACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3237396	NM_002730.4(PRKACA):c.323A>C (p.Glu108Ala)	PRKACA (E100A +2 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 1	GUncertain significance
Select item 2649414	NM_002730.4(PRKACA):c.321C>G (p.Leu107=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631685	NM_002730.4(PRKACA):c.197C>G (p.Thr66Ser)	PRKACA (T142S +2 more)	Single nucleotide variant (missense variant)	PRKACA-related disorder	GUncertain significance
Select item 2553520	NM_002730.4(PRKACA):c.185A>G (p.Lys62Arg)	PRKACA (K54R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743261	NM_002730.4(PRKACA):c.165C>T (p.Phe55=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3049005	NM_002730.4(PRKACA):c.150C>T (p.Leu50=)	PRKACA	Single nucleotide variant (synonymous variant)	PRKACA-related disorder	GLikely benign
Select item 733752	NM_002730.4(PRKACA):c.109-6C>T	PRKACA	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 708471	NM_002730.4(PRKACA):c.102C>T (p.Pro34=)	PRKACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1321985	NM_002730.4(PRKACA):c.61G>C (p.Ala21Pro)	PRKACA (A13P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3044521	NM_002730.4(PRKACA):c.47-332G>A	PRKACA (G82S)	Single nucleotide variant (missense variant +1 more)	PRKACA-related disorder	GBenign
Select item 3038933	NM_002730.4(PRKACA):c.47-418C>T	PRKACA (P53L)	Single nucleotide variant (missense variant +1 more)	PRKACA-related disorder	GLikely benign
Select item 3047053	NM_002730.4(PRKACA):c.46+3338G>A	PRKACA	Single nucleotide variant (5 prime UTR variant +1 more)	PRKACA-related disorder	GLikely benign
Select item 3047474	NM_002730.4(PRKACA):c.46+10C>T	PRKACA	Single nucleotide variant (intron variant)	PRKACA-related disorder	GLikely benign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 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

Search results

Items: 51