26060[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 1316564	NC_000003.12:g.57227627A>T	APPL1, LOC129936926	Single nucleotide variant	not provided	GLikely benign
Select item 1318073	NM_012096.3(APPL1):c.-151G>C	APPL1, LOC129936926	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1251769	NM_012096.3(APPL1):c.-18C>T	APPL1, LOC129936926	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2987151	NM_012096.3(APPL1):c.5C>A (p.Pro2Gln)	APPL1, LOC129936926 (P2Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646880	NM_012096.3(APPL1):c.9G>A (p.Gly3=)	APPL1, LOC129936926	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1183160	NM_012096.3(APPL1):c.36G>C (p.Thr12=)	APPL1, LOC129936926	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3128081	NM_012096.3(APPL1):c.47G>T (p.Ser16Ile)	APPL1, LOC129936926 (S16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2982755	NM_012096.3(APPL1):c.50C>G (p.Pro17Arg)	APPL1, LOC129936926 (P17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656468	NM_012096.3(APPL1):c.54+10G>A	APPL1, LOC129936926	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261640	NM_012096.3(APPL1):c.54+63C>T	APPL1, LOC129936926	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318328	NM_012096.3(APPL1):c.55-266G>C	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957514	NM_012096.3(APPL1):c.55-19T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170466	NM_012096.3(APPL1):c.69A>G (p.Leu23=)	APPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1906567	NM_012096.3(APPL1):c.117G>C (p.Gln39His)	APPL1 (Q39H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049015	NM_012096.3(APPL1):c.136C>T (p.Arg46Trp)	APPL1 (R46W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831340	NM_012096.3(APPL1):c.195A>G (p.Leu65=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1336573	NM_012096.3(APPL1):c.200A>G (p.Glu67Gly)	APPL1 (E67G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1252726	NM_012096.3(APPL1):c.214-160G>A	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633626	NM_012096.3(APPL1):c.214-18C>A	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 778086	NM_012096.3(APPL1):c.219T>C (p.Phe73=)	APPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 713805	NM_012096.3(APPL1):c.256T>C (p.Leu86=)	APPL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2705460	NM_012096.3(APPL1):c.267T>C (p.Phe89=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208075	NM_012096.3(APPL1):c.280G>A (p.Asp94Asn)	APPL1 (D94N)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 14	GPathogenic
Select item 1169476	NM_012096.3(APPL1):c.285+6C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318250	NM_012096.3(APPL1):c.285+215C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879365	NM_012096.3(APPL1):c.286-10_286-7del	APPL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1980522	NM_012096.3(APPL1):c.308T>G (p.Leu103Arg)	APPL1 (L103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369151	NM_012096.3(APPL1):c.313A>G (p.Thr105Ala)	APPL1 (T105A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3308777	NM_012096.3(APPL1):c.336G>A (p.Met112Ile)	APPL1 (M112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317690	NM_012096.3(APPL1):c.373+248_373+256del	APPL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2428706	NM_012096.3(APPL1):c.374-9C>T	APPL1	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 14	GLikely benign
Select item 2888599	NM_012096.3(APPL1):c.402G>C (p.Gln134His)	APPL1 (Q134H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289766	NM_012096.3(APPL1):c.415+96del	APPL1	Deletion (intron variant)	not provided	GBenign
Select item 1316864	NM_012096.3(APPL1):c.416-194A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032612	NM_012096.3(APPL1):c.432_433insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCGGCCCCCCGATGCTGCGATT (p.Asn145delinsPhePhePhePhePhePheXaaXaaXaaXaaThrLeuTer)	APPL1	Insertion (nonsense)	not provided	GUncertain significance
Select item 1449769	NM_012096.3(APPL1):c.446G>A (p.Arg149His)	APPL1 (R149H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317771	NM_012096.3(APPL1):c.474+182A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770651	NM_012096.3(APPL1):c.519ACA[1] (p.Gln174del)	APPL1 (Q174del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2283267	NM_012096.3(APPL1):c.548G>A (p.Cys183Tyr)	APPL1 (C183Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1584752	NM_012096.3(APPL1):c.571A>C (p.Lys191Gln)	APPL1 (K191Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1169477	NM_012096.3(APPL1):c.621+5A>G	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316927	NM_012096.3(APPL1):c.621+296C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987987	NM_012096.3(APPL1):c.622-17C>A	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2188304	NM_012096.3(APPL1):c.637A>C (p.Met213Leu)	APPL1 (M213L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888229	NM_012096.3(APPL1):c.686T>C (p.Ile229Thr)	APPL1 (I229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128082	NM_012096.3(APPL1):c.697G>A (p.Val233Ile)	APPL1 (V233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247695	NM_012096.3(APPL1):c.704+78T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318097	NM_012096.3(APPL1):c.704+92C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236470	NM_012096.3(APPL1):c.705-211T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3308818	NM_012096.3(APPL1):c.731T>C (p.Ile244Thr)	APPL1 (I244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1904599	NM_012096.3(APPL1):c.750A>G (p.Thr250=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250571	NM_012096.3(APPL1):c.770C>A (p.Ala257Asp)	APPL1 (A257D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1713823	NM_012096.3(APPL1):c.797C>T (p.Pro266Leu)	APPL1 (P266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603143	NM_012096.3(APPL1):c.803C>G (p.Pro268Arg)	APPL1 (P268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036859	NM_012096.3(APPL1):c.813T>C (p.Phe271=)	APPL1	Single nucleotide variant (synonymous variant)	APPL1-related disorder	GLikely benign
Select item 2921225	NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)	APPL1 (R275Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 14	GUncertain significance
Select item 1960994	NM_012096.3(APPL1):c.839A>T (p.Lys280Met)	APPL1 (K280M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627279	NM_012096.3(APPL1):c.863+19T>C	APPL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1280700	NM_012096.3(APPL1):c.863+293C>T	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317734	NM_012096.3(APPL1):c.864-226T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3128083	NM_012096.3(APPL1):c.958G>C (p.Gly320Arg)	APPL1 (G320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2765867	NM_012096.3(APPL1):c.964G>A (p.Ala322Thr)	APPL1 (A322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712437	NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu)	APPL1 (D334E)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 14 +1 more	GBenign/Likely benign
Select item 2974200	NM_012096.3(APPL1):c.1015C>A (p.Arg339=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400786	NM_012096.3(APPL1):c.1034C>T (p.Thr345Ile)	APPL1 (T345I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804963	NM_012096.3(APPL1):c.1050A>G (p.Lys350=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1247939	NM_012096.3(APPL1):c.1052+31T>C	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235273	NM_012096.3(APPL1):c.1052+221dup	APPL1	Duplication (intron variant)	not provided	GBenign
Select item 1671540	NM_012096.3(APPL1):c.1053-16G>A	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1384638	NM_012096.3(APPL1):c.1060A>G (p.Ile354Val)	APPL1 (I354V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074403	NM_012096.3(APPL1):c.1089T>C (p.His363=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3069070	NM_012096.3(APPL1):c.1096-17A>G	APPL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3128074	NM_012096.3(APPL1):c.1105A>G (p.Thr369Ala)	APPL1 (T369A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717883	NM_012096.3(APPL1):c.1117A>G (p.Ile373Val)	APPL1 (I373V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221546	NM_012096.3(APPL1):c.1152+184G>A	APPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879583	NM_012096.3(APPL1):c.1165C>T (p.Arg389Ter)	APPL1 (R389*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2103318	NM_012096.3(APPL1):c.1187A>T (p.Glu396Val)	APPL1 (E396V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782428	NM_012096.3(APPL1):c.1206A>G (p.Pro402=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2268099	NM_012096.3(APPL1):c.1220G>T (p.Arg407Met)	APPL1 (R407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2968482	NM_012096.3(APPL1):c.1221G>T (p.Arg407Ser)	APPL1 (R407S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251928	NM_012096.3(APPL1):c.1224C>T (p.His408=)	APPL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2899241	NM_012096.3(APPL1):c.1225G>A (p.Glu409Lys)	APPL1 (E409K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128075	NM_012096.3(APPL1):c.1234C>T (p.Arg412Trp)	APPL1 (R412W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2741081	NM_012096.3(APPL1):c.1235G>A (p.Arg412Gln)	APPL1 (R412Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366384	NM_012096.3(APPL1):c.1247G>C (p.Gly416Ala)	APPL1 (G416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3013593	NM_012096.3(APPL1):c.1247+10C>A	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318405	NM_012096.3(APPL1):c.1247+40C>G	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778473	NM_012096.3(APPL1):c.1248-13G>T	APPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1397587	NM_012096.3(APPL1):c.1255C>T (p.Arg419Trp)	APPL1 (R419W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336005	NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)	APPL1 (P421L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1602995	NM_012096.3(APPL1):c.1263G>T (p.Pro421=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543957	NM_012096.3(APPL1):c.1279A>G (p.Ser427Gly)	APPL1 (S427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2721788	NM_012096.3(APPL1):c.1296A>G (p.Gly432=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3128076	NM_012096.3(APPL1):c.1310A>G (p.Asn437Ser)	APPL1 (N437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1935912	NM_012096.3(APPL1):c.1321C>G (p.Leu441Val)	APPL1 (L441V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016702	NM_012096.3(APPL1):c.1338T>G (p.Leu446=)	APPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719006	NM_012096.3(APPL1):c.1376C>G (p.Ser459Cys)	APPL1 (S459C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336325	NM_012096.3(APPL1):c.1430+9dup	APPL1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign

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