5567[geneid] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
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 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 3350164	NM_182948.4(PRKACB):c.188-14760G>A	PRKACB (G2E)	Single nucleotide variant (missense variant +1 more)	PRKACB-related disorder	GUncertain significance
Select item 3350906	NM_182948.4(PRKACB):c.188-4120G>A	PRKACB	Single nucleotide variant (intron variant +1 more)	PRKACB-related disorder	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 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 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 3367679	NM_182948.4(PRKACB):c.287C>A (p.Thr96Asn)	PRKACB (T36N +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3367481	NM_182948.4(PRKACB):c.393G>C (p.Lys131Asn)	PRKACB (K131N +11 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 3375391	NM_182948.4(PRKACB):c.832G>A (p.Glu278Lys)	PRKACB (E201K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
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 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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +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 3361019	NM_182948.4(PRKACB):c.977C>T (p.Thr326Ile)	PRKACB (T249I +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 48