AK5[gene] - ClinVar

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Items: 60

	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 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	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 153933	GRCh38/hg38 1p31.1(chr1:77256993-77510214)x1	AK5, LOC120893142 +2 more	Copy number loss	See cases	GUncertain significance
Select item 155250	GRCh38/hg38 1p31.1(chr1:77264562-77493002)x1	AK5, LOC120893142 +1 more	Copy number loss	See cases	GLikely benign
Select item 2214664	NM_174858.3(AK5):c.47C>T (p.Pro16Leu)	AK5 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557912	NM_174858.3(AK5):c.172A>G (p.Thr58Ala)	AK5 (T32A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260181	NM_174858.3(AK5):c.195G>T (p.Lys65Asn)	AK5 (K39N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103579	NM_174858.3(AK5):c.227G>A (p.Arg76Gln)	AK5 (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256851	NM_174858.3(AK5):c.280C>T (p.Arg94Trp)	AK5 (R68W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279913	NM_174858.3(AK5):c.289C>T (p.Arg97Trp)	AK5 (R97W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334968	NM_174858.3(AK5):c.290G>A (p.Arg97Gln)	AK5 (R97Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638889	NM_174858.3(AK5):c.360G>A (p.Glu120=)	AK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103600	NM_174858.3(AK5):c.382A>G (p.Thr128Ala)	AK5 (T102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294098	NM_174858.3(AK5):c.487G>A (p.Val163Met)	AK5 (V137M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277187	NM_174858.3(AK5):c.518G>A (p.Ser173Asn)	AK5 (S147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402356	NM_174858.3(AK5):c.609= (p.Lys203=)	AK5	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 2480695	NM_174858.3(AK5):c.751A>G (p.Lys251Glu)	AK5 (K251E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263182	NM_174858.3(AK5):c.796G>A (p.Asp266Asn)	AK5 (D266N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215901	NM_174858.3(AK5):c.886A>G (p.Met296Val)	AK5 (M296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103650	NM_174858.3(AK5):c.893T>G (p.Phe298Cys)	AK5 (F272C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357166	NM_174858.3(AK5):c.957A>T (p.Leu319Phe)	AK5 (L319F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253459	NM_174858.3(AK5):c.1010T>C (p.Ile337Thr)	AK5 (I337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402357	NM_174858.3(AK5):c.1059+12C>T	AK5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3103456	NM_174858.3(AK5):c.1061G>T (p.Gly354Val)	AK5 (G328V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244187	NM_174858.3(AK5):c.1070A>G (p.Gln357Arg)	AK5 (Q331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323129	NM_174858.3(AK5):c.1225G>C (p.Glu409Gln)	AK5 (E409Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619627	NM_174858.3(AK5):c.1291C>T (p.Arg431Cys)	AK5 (R405C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638890	NM_174858.3(AK5):c.1314C>T (p.Gly438=)	AK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600802	NM_174858.3(AK5):c.1318G>A (p.Val440Ile)	AK5 (V440I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332694	NM_174858.3(AK5):c.1344G>A (p.Met448Ile)	AK5 (M448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103497	NM_174858.3(AK5):c.1357G>A (p.Gly453Arg)	AK5 (G427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103507	NM_174858.3(AK5):c.1384G>A (p.Gly462Ser)	AK5 (G462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257635	NM_174858.3(AK5):c.1393C>T (p.Arg465Trp)	AK5 (R439W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369789	NM_174858.3(AK5):c.1420G>A (p.Gly474Arg)	AK5 (G474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321473	NM_174858.3(AK5):c.1420G>C (p.Gly474Arg)	AK5 (G474R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103534	NM_174858.3(AK5):c.1504C>T (p.Arg502Trp)	AK5 (R476W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103544	NM_174858.3(AK5):c.1531A>G (p.Thr511Ala)	AK5 (T485A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559752	NM_174858.3(AK5):c.1595A>T (p.Tyr532Phe)	AK5 (Y506F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402358	NM_174858.3(AK5):c.1621-3T>C	AK5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2308009	NM_174858.3(AK5):c.1642G>A (p.Glu548Lys)	AK5 (E548K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402359	NM_174858.3(AK5):c.1681_1683dup (p.Ile561dup)	AK5	Duplication (inframe_insertion)	not specified	GBenign
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 1527115	GRCh37/hg19 1p31.1(chr1:77722678-77970795)x1	AK5	Copy number loss	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 686789	GRCh37/hg19 1p31.1(chr1:77954138-78053851)x3	AK5, ZZZ3	Copy number gain	not provided	GUncertain significance
Select item 686757	GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3	AK5, PIGK +1 more	Copy number gain	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 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 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565117	GRCh37/hg19 1p31.1(chr1:77717646-77970795)x1	AK5	Copy number loss	not provided	GUncertain significance
Select item 443881	GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1	ACADM, AK5 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 442805	GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1	AK5, MIGA1 +2 more	Copy number loss	See cases	GUncertain significance
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 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 60