APLP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 2404230	NM_001142276.2(APLP2):c.98A>C (p.Tyr33Ser)	APLP2 (Y33S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247605	NM_001142276.2(APLP2):c.250A>G (p.Lys84Glu)	APLP2 (K94E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590454	NM_001142276.2(APLP2):c.257A>T (p.Glu86Val)	APLP2 (E86V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127873	NM_001142276.2(APLP2):c.258A>T (p.Glu86Asp)	APLP2 (E96D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532477	NM_001142276.2(APLP2):c.415G>A (p.Val139Ile)	APLP2 (V144I +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3127874	NM_001142276.2(APLP2):c.441A>T (p.Glu147Asp)	APLP2 (E89D +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2278924	NM_001142276.2(APLP2):c.467G>A (p.Arg156Gln)	APLP2 (R156Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2492119	NM_001142276.2(APLP2):c.487C>T (p.His163Tyr)	APLP2 (H163Y +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2465818	NM_001142276.2(APLP2):c.524T>G (p.Leu175Arg)	APLP2 (L175R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398282	NM_001142276.2(APLP2):c.580C>G (p.Gln194Glu)	APLP2 (Q204E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239708	NM_001142276.2(APLP2):c.665A>G (p.Glu222Gly)	APLP2 (E164G +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532040	NM_001142276.2(APLP2):c.672G>T (p.Glu224Asp)	APLP2 (E128D +7 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2616419	NM_001142276.2(APLP2):c.703G>A (p.Val235Ile)	APLP2 (V191I +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2359071	NM_001142276.2(APLP2):c.730G>A (p.Ala244Thr)	APLP2 (A148T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271004	NM_001142276.2(APLP2):c.812G>A (p.Arg271Gln)	APLP2 (R213Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486216	NM_001142276.2(APLP2):c.878G>C (p.Ser293Thr)	APLP2 (S197T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 713493	NM_001142276.2(APLP2):c.922+9A>C	APLP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2516852	NM_001142276.2(APLP2):c.958C>T (p.Arg320Trp)	APLP2 (R164W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127876	NM_001142276.2(APLP2):c.973C>T (p.Arg325Cys)	APLP2 (R267C +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360287	NM_001142276.2(APLP2):c.974G>A (p.Arg325His)	APLP2 (R169H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127877	NM_001142276.2(APLP2):c.985G>A (p.Asp329Asn)	APLP2 (D271N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604709	NM_001142276.2(APLP2):c.1002G>T (p.Lys334Asn)	APLP2 (K301N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211775	NM_001142276.2(APLP2):c.1006G>C (p.Val336Leu)	APLP2 (V278L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127860	NM_001142276.2(APLP2):c.1046A>G (p.Asn349Ser)	APLP2 (N349S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127861	NM_001142276.2(APLP2):c.1051G>C (p.Glu351Gln)	APLP2 (E307Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127862	NM_001142276.2(APLP2):c.1058A>T (p.Glu353Val)	APLP2 (E197V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127863	NM_001142276.2(APLP2):c.1085C>T (p.Ala362Val)	APLP2 (A318V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127864	NM_001142276.2(APLP2):c.1088T>C (p.Met363Thr)	APLP2 (M267T +7 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3127866	NM_001142276.2(APLP2):c.1115A>G (p.Asn372Ser)	APLP2 (N143S +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387938	NM_001142276.2(APLP2):c.1145C>T (p.Ala382Val)	APLP2 (A286V +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314943	NM_001142276.2(APLP2):c.1211G>A (p.Arg404Gln)	APLP2 (R348Q +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127867	NM_001142276.2(APLP2):c.1258A>G (p.Lys420Glu)	APLP2 (K191E +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127868	NM_001142276.2(APLP2):c.1271A>G (p.Lys424Arg)	APLP2 (K195R +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308051	NM_001142276.2(APLP2):c.1334C>T (p.Ala445Val)	APLP2 (A216V +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233700	NM_001142276.2(APLP2):c.1340G>A (p.Ser447Asn)	APLP2 (S291N +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456603	NM_001142276.2(APLP2):c.1463G>A (p.Arg488His)	APLP2 (R486H +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127869	NM_001142276.2(APLP2):c.1492C>T (p.Arg498Cys)	APLP2 (R346C +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127870	NM_001142276.2(APLP2):c.1559A>G (p.Glu520Gly)	APLP2 (E487G +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322891	NM_001142276.2(APLP2):c.1590G>A (p.Met530Ile)	APLP2 (M345I +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127872	NM_001142276.2(APLP2):c.1622A>G (p.Asn541Ser)	APLP2 (N385S +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268883	NM_001142276.2(APLP2):c.1705C>T (p.Arg569Cys)	APLP2 (R507C +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387661	NM_001142276.2(APLP2):c.1715T>C (p.Met572Thr)	APLP2 (M420T +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387470	NM_001142276.2(APLP2):c.1756G>A (p.Val586Ile)	APLP2 (V434I +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2507927	NM_001142276.2(APLP2):c.1774G>A (p.Glu592Lys)	APLP2 (E407K +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460238	NM_001142276.2(APLP2):c.1787T>A (p.Ile596Asn)	APLP2 (I440N +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216267	NM_001142276.2(APLP2):c.1797C>G (p.Phe599Leu)	APLP2 (F370L +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621877	NM_001142276.2(APLP2):c.1823T>C (p.Leu608Pro)	APLP2 (L546P +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411598	NM_001142276.2(APLP2):c.1837+1543A>G	APLP2 (T458A +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404863	NM_001142276.2(APLP2):c.1837+1550C>T	APLP2 (P502L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405123	NM_001142276.2(APLP2):c.1837+1567A>G	APLP2 (M466V +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 713494	NM_001142276.2(APLP2):c.1923+9G>A	APLP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2278649	NM_001142276.2(APLP2):c.1933G>C (p.Glu645Gln)	APLP2 (E531Q +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615166	NM_001142276.2(APLP2):c.1964A>G (p.Asn655Ser)	APLP2 (N426S +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491540	NM_001142276.2(APLP2):c.1997G>A (p.Arg666Gln)	APLP2 (R481Q +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488726	NM_001142276.2(APLP2):c.2044G>A (p.Ala682Thr)	APLP2 (A453T +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407849	NM_001142276.2(APLP2):c.2092G>A (p.Val698Ile)	APLP2 (V513I +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 758791	NM_001142276.2(APLP2):c.2169C>T (p.Leu723=)	APLP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2362169	NM_001142276.2(APLP2):c.2251A>G (p.Ile751Val)	APLP2 (I548V +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063223	GRCh37/hg19 11q24.3(chr11:129963003-130520740)x3	ADAMTS15, ADAMTS8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

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