ClinVar for Gene (Select 5567) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309935	NM_182948.4(PRKACB):c.953G>A (p.Arg318Gln)	PRKACB (R267Q +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218712	NM_182948.4(PRKACB):c.345G>C (p.Gln115His)	PRKACB (Q115H +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218711	NM_182948.4(PRKACB):c.136G>A (p.Glu46Lys)	PRKACB (E46K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218710	NM_182948.4(PRKACB):c.118G>A (p.Asp40Asn)	PRKACB (D40N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067714	NM_182948.4(PRKACB):c.202G>A (p.Ala68Thr)	PRKACB (A16T +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	IFI44L, LHX8 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2921164	NM_182948.4(PRKACB):c.1016T>C (p.Ile339Thr)	PRKACB (I280T +12 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GUncertain significance
Select item 2629721	NM_182948.4(PRKACB):c.180C>A (p.Asp60Glu)	PRKACB (D60E)	Single nucleotide variant (missense variant +1 more)	PRKACB-related disorder	GUncertain significance
Select item 2620609	NM_182948.4(PRKACB):c.490T>G (p.Leu164Val)	PRKACB (L124V +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618689	NM_182948.4(PRKACB):c.170C>T (p.Ala57Val)	PRKACB (A57V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589211	NM_182948.4(PRKACB):c.83G>A (p.Arg28Gln)	PRKACB (R28Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505002	NM_182948.4(PRKACB):c.-1A>C	PRKACB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2462919	NM_182948.4(PRKACB):c.259G>A (p.Gly87Arg)	PRKACB (G35R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442578	NM_182948.4(PRKACB):c.245C>T (p.Thr82Ile)	PRKACB (T22I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405085	NM_182948.4(PRKACB):c.1057A>G (p.Ile353Val)	PRKACB (I293V +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402525	NM_182948.4(PRKACB):c.1151G>A (p.Arg384His)	PRKACB (R307H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311422	NM_182948.4(PRKACB):c.164A>G (p.His55Arg)	PRKACB (H55R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1805125	NM_182948.4(PRKACB):c.404A>T (p.His135Leu)	PRKACB (H135L +11 more)	Single nucleotide variant (missense variant +1 more)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 1687603	NM_182948.4(PRKACB):c.640G>C (p.Asp214His)	PRKACB (D137H +12 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GUncertain significance
Select item 1527148	GRCh37/hg19 1p31.1-22.3(chr1:84084511-84921911)	DNASE2B, PRKACB +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1340980	GRCh37/hg19 1p31.1(chr1:84664456-84776154)x1	PRKACB, SAMD13	Copy number loss	not provided	GUncertain significance
Select item 989459	NM_182948.4(PRKACB):c.403C>A (p.His135Asn)	PRKACB (H88N +11 more)	Single nucleotide variant (missense variant +1 more)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 989458	NM_182948.4(PRKACB):c.404A>G (p.His135Arg)	PRKACB (H88R +11 more)	Single nucleotide variant (missense variant +1 more)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 989457	NM_182948.4(PRKACB):c.302C>T (p.Ser101Leu)	PRKACB (S54L +11 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 989456	NM_182948.4(PRKACB):c.844G>C (p.Gly282Arg)	PRKACB (G235R +12 more)	Single nucleotide variant (missense variant)	Cardioacrofacial dysplasia 2	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 688852	GRCh37/hg19 1p31.1(chr1:84453218-84586599)x1	PRKACB, TTLL7	Copy number loss	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635770	GRCh37/hg19 1p31.1(chr1:84264954-84731653)x1	PRKACB, TTLL7	Copy number loss	Delayed speech and language development	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 565119	GRCh37/hg19 1p31.1(chr1:84504843-84604937)x1	PRKACB	Copy number loss	not provided	GLikely benign
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 221413	GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3	GNG5, CTBS +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221412	GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6	PRKACB	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 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: 42