APPL2[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 3128089	NM_018171.5(APPL2):c.1987G>C (p.Glu663Gln)	APPL2 (E663Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464958	NM_018171.5(APPL2):c.1987G>A (p.Glu663Lys)	APPL2 (E620K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369149	NM_018171.5(APPL2):c.1948G>A (p.Asp650Asn)	APPL2 (D650N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308882	NM_018171.5(APPL2):c.1857G>C (p.Gln619His)	APPL2 (Q576H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308846	NM_018171.5(APPL2):c.1847T>C (p.Ile616Thr)	APPL2 (I616T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370412	NM_018171.5(APPL2):c.1843A>C (p.Ile615Leu)	APPL2 (I615L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473868	NM_018171.5(APPL2):c.1581T>A (p.His527Gln)	APPL2 (H527Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384353	NM_018171.5(APPL2):c.1558G>T (p.Val520Leu)	APPL2 (V526L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359928	NM_018171.5(APPL2):c.1547C>T (p.Ala516Val)	APPL2 (A473V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303679	NM_018171.5(APPL2):c.1490G>A (p.Arg497Gln)	APPL2 (R454Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258537	NM_018171.5(APPL2):c.1469T>G (p.Leu490Trp)	APPL2 (L447W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643259	NM_018171.5(APPL2):c.1434G>A (p.Glu478=)	APPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128088	NM_018171.5(APPL2):c.1422T>G (p.Phe474Leu)	APPL2 (F480L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231647	NM_018171.5(APPL2):c.1408C>T (p.Arg470Cys)	APPL2 (R427C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308874	NM_018171.5(APPL2):c.1376C>A (p.Thr459Lys)	APPL2 (T416K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128087	NM_018171.5(APPL2):c.1337C>T (p.Pro446Leu)	APPL2 (P452L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128086	NM_018171.5(APPL2):c.1334C>T (p.Ala445Val)	APPL2 (A451V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358865	NM_018171.5(APPL2):c.1333G>A (p.Ala445Thr)	APPL2 (A451T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128085	NM_018171.5(APPL2):c.1322A>G (p.Glu441Gly)	APPL2 (E447G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369505	NM_018171.5(APPL2):c.1229G>C (p.Ser410Thr)	APPL2 (S410T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312656	NM_018171.5(APPL2):c.1205C>T (p.Thr402Ile)	APPL2 (T359I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609060	NM_018171.5(APPL2):c.1170G>C (p.Leu390Phe)	APPL2 (L347F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308855	NM_018171.5(APPL2):c.1054G>A (p.Gly352Arg)	APPL2 (G352R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228069	NM_018171.5(APPL2):c.1037C>T (p.Thr346Met)	APPL2 (T303M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611998	NM_018171.5(APPL2):c.1011C>G (p.Asp337Glu)	APPL2 (D294E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556274	NM_018171.5(APPL2):c.979A>G (p.Asn327Asp)	APPL2 (N327D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253205	NM_018171.5(APPL2):c.923A>C (p.Asn308Thr)	APPL2 (N308T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308864	NM_018171.5(APPL2):c.777A>C (p.Glu259Asp)	APPL2 (E216D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481929	NM_018171.5(APPL2):c.775G>C (p.Glu259Gln)	APPL2 (E265Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485582	NM_018171.5(APPL2):c.630T>A (p.Phe210Leu)	APPL2 (F216L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128093	NM_018171.5(APPL2):c.601A>T (p.Ile201Leu)	APPL2 (I201L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128092	NM_018171.5(APPL2):c.529T>C (p.Ser177Pro)	APPL2 (S134P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128091	NM_018171.5(APPL2):c.503C>G (p.Ala168Gly)	APPL2 (A168G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238832	NM_018171.5(APPL2):c.486A>C (p.Glu162Asp)	APPL2 (E168D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274997	NM_018171.5(APPL2):c.414T>G (p.Asn138Lys)	APPL2 (N138K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466263	NM_018171.5(APPL2):c.406G>A (p.Ala136Thr)	APPL2 (A136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128090	NM_018171.5(APPL2):c.356G>A (p.Arg119Gln)	APPL2 (R76Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308893	NM_018171.5(APPL2):c.260A>G (p.His87Arg)	APPL2 (H44R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530817	NM_018171.5(APPL2):c.143A>G (p.Tyr48Cys)	APPL2 (Y48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469305	NM_018171.5(APPL2):c.137G>A (p.Arg46His)	APPL2 (R46H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257132	NM_018171.5(APPL2):c.103G>C (p.Asp35His)	APPL2 (D35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256771	NM_018171.5(APPL2):c.73G>A (p.Val25Met)	APPL2 (V25M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 2411003	NM_018171.5(APPL2):c.19C>T (p.Leu7Phe)	APPL2, LOC130008647 (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527731	GRCh37/hg19 12q23.3(chr12:105440246-105773254)	ALDH1L2, APPL2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 55