AKAP8L[gene] - ClinVar

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Items: 62

	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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 60272	GRCh38/hg38 19p13.12(chr19:15227306-15496644)x3	AKAP8, AKAP8L +27 more	Copy number gain	See cases	GUncertain significance
Select item 748531	NM_014371.4(AKAP8L):c.1899C>G (p.Leu633=)	AKAP8L, LOC112543462	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2213516	NM_014371.4(AKAP8L):c.1882C>T (p.Arg628Cys)	AKAP8L, LOC112543462 (R628C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106634	NM_014371.4(AKAP8L):c.1814C>T (p.Pro605Leu)	AKAP8L, LOC112543462 (P544L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337122	NM_014371.4(AKAP8L):c.1792G>C (p.Gly598Arg)	AKAP8L, LOC112543462 (G537R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524475	NM_014371.4(AKAP8L):c.1690G>A (p.Gly564Ser)	AKAP8L, LOC112543462 (G503S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381524	NM_014371.4(AKAP8L):c.1676A>C (p.Gln559Pro)	AKAP8L, LOC112543462 (Q559P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106620	NM_014371.4(AKAP8L):c.1610A>G (p.Lys537Arg)	AKAP8L, LOC112543462 (K476R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326042	NM_014371.4(AKAP8L):c.1600C>T (p.Leu534Phe)	AKAP8L, LOC112543462 (L473F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106615	NM_014371.4(AKAP8L):c.1556A>G (p.Lys519Arg)	AKAP8L, LOC112543462 (K458R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307404	NM_014371.4(AKAP8L):c.1471A>G (p.Ile491Val)	AKAP8L (I491V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106612	NM_014371.4(AKAP8L):c.1444G>A (p.Ala482Thr)	AKAP8L (A421T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355322	NM_014371.4(AKAP8L):c.1416G>A (p.Met472Ile)	AKAP8L (M472I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227030	NM_014371.4(AKAP8L):c.1348G>A (p.Val450Met)	AKAP8L (V389M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319194	NM_014371.4(AKAP8L):c.1306G>A (p.Val436Ile)	AKAP8L (V375I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309122	NM_014371.4(AKAP8L):c.1258G>A (p.Val420Ile)	AKAP8L (V359I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768976	NM_014371.4(AKAP8L):c.1051G>C (p.Ala351Pro)	AKAP8L (A290P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2483846	NM_014371.4(AKAP8L):c.970A>G (p.Lys324Glu)	AKAP8L (K263E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106721	NM_014371.4(AKAP8L):c.967G>A (p.Glu323Lys)	AKAP8L (E323K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528218	NM_014371.4(AKAP8L):c.961G>T (p.Ala321Ser)	AKAP8L (A321S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106716	NM_014371.4(AKAP8L):c.958G>C (p.Glu320Gln)	AKAP8L (E259Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267325	NM_014371.4(AKAP8L):c.956C>T (p.Thr319Ile)	AKAP8L (T319I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106708	NM_014371.4(AKAP8L):c.928G>T (p.Gly310Trp)	AKAP8L (G310W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227972	NM_014371.4(AKAP8L):c.881C>T (p.Thr294Met)	AKAP8L (T233M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741278	NM_014371.4(AKAP8L):c.817-4C>T	AKAP8L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3106693	NM_014371.4(AKAP8L):c.760A>G (p.Asn254Asp)	AKAP8L (N254D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468851	NM_014371.4(AKAP8L):c.728C>T (p.Pro243Leu)	AKAP8L (P182L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539197	NM_014371.4(AKAP8L):c.707T>C (p.Met236Thr)	AKAP8L (M236T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106682	NM_014371.4(AKAP8L):c.671A>G (p.Gln224Arg)	AKAP8L (Q224R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232981	NM_014371.4(AKAP8L):c.623G>A (p.Arg208Gln)	AKAP8L (R147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262537	NM_014371.4(AKAP8L):c.595C>T (p.Arg199Cys)	AKAP8L (R138C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106672	NM_014371.4(AKAP8L):c.584C>T (p.Ser195Leu)	AKAP8L (S134L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348917	NM_014371.4(AKAP8L):c.505C>T (p.Arg169Cys)	AKAP8L (R108C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404531	NM_014371.4(AKAP8L):c.499C>A (p.Gln167Lys)	AKAP8L (Q106K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106658	NM_014371.4(AKAP8L):c.496G>A (p.Asp166Asn)	AKAP8L (D105N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378012	NM_014371.4(AKAP8L):c.496G>T (p.Asp166Tyr)	AKAP8L (D166Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106651	NM_014371.4(AKAP8L):c.470A>G (p.Tyr157Cys)	AKAP8L (Y157C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552858	NM_014371.4(AKAP8L):c.457A>G (p.Met153Val)	AKAP8L (M92V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550779	NM_014371.4(AKAP8L):c.431A>G (p.Tyr144Cys)	AKAP8L (Y83C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782324	NM_014371.4(AKAP8L):c.384C>T (p.Cys128=)	AKAP8L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2595662	NM_014371.4(AKAP8L):c.293G>A (p.Arg98His)	AKAP8L (R98H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589489	NM_014371.4(AKAP8L):c.278C>T (p.Ser93Phe)	AKAP8L (S93F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359008	NM_014371.4(AKAP8L):c.109G>C (p.Gly37Arg)	AKAP8L (G37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106699	NM_014371.4(AKAP8L):c.86A>T (p.Tyr29Phe)	AKAP8L (Y29F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3062383	GRCh37/hg19 19p13.12(chr19:15263384-15683826)x3	AKAP8, AKAP8L +7 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	SLC1A6, RAB8A +57 more	Deletion	not provided	GUncertain significance
Select item 1526657	GRCh37/hg19 19p13.12(chr19:15184922-15582812)	BRD4, EPHX3 +9 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 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 687104	GRCh37/hg19 19p13.12(chr19:15338105-15668026)x1	AKAP8, AKAP8L +6 more	Copy number loss	not provided	GUncertain significance
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 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 62