13635[HGNC] - ClinVar - NCBI

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	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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 1981960	NM_031310.3(PLVAP):c.1323-6C>T	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877444	NM_031310.3(PLVAP):c.1323-8T>C	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772708	NM_031310.3(PLVAP):c.1322+11G>A	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697511	NM_031310.3(PLVAP):c.1322+7C>T	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050866	NM_031310.3(PLVAP):c.1313C>T (p.Ala438Val)	PLVAP (A438V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2003379	NM_031310.3(PLVAP):c.1308T>C (p.Pro436=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694906	NM_031310.3(PLVAP):c.1296T>C (p.Pro432=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2417255	NM_031310.3(PLVAP):c.1294C>T (p.Pro432Ser)	PLVAP (P432S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111961	NM_031310.3(PLVAP):c.1278G>A (p.Leu426=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063005	NM_031310.3(PLVAP):c.1274T>C (p.Ile425Thr)	PLVAP (I425T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978624	NM_031310.3(PLVAP):c.1269G>A (p.Arg423=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021788	NM_031310.3(PLVAP):c.1260G>A (p.Glu420=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814954	NM_031310.3(PLVAP):c.1241-16C>G	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973330	NM_031310.3(PLVAP):c.1241-19C>T	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419270	NM_031310.3(PLVAP):c.1240+10A>G	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177259	NM_031310.3(PLVAP):c.1239C>T (p.Ile413=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2073943	NM_031310.3(PLVAP):c.1234C>T (p.Pro412Ser)	PLVAP (P412S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188869	NM_031310.3(PLVAP):c.1233G>A (p.Gln411=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023413	NM_031310.3(PLVAP):c.1233G>C (p.Gln411His)	PLVAP (Q411H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890881	NM_031310.3(PLVAP):c.1230C>G (p.Pro410=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2207835	NM_031310.3(PLVAP):c.1228C>A (p.Pro410Thr)	PLVAP (P410T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2709037	NM_031310.3(PLVAP):c.1215C>T (p.Gly405=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744342	NM_031310.3(PLVAP):c.1197A>C (p.Pro399=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2396129	NM_031310.3(PLVAP):c.1191G>A (p.Met397Ile)	PLVAP (M397I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2168618	NM_031310.3(PLVAP):c.1188G>A (p.Pro396=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791512	NM_031310.3(PLVAP):c.1187C>T (p.Pro396Leu)	PLVAP (P396L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2090954	NM_031310.3(PLVAP):c.1186C>A (p.Pro396Thr)	PLVAP (P396T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2112514	NM_031310.3(PLVAP):c.1182G>A (p.Ser394=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094979	NM_031310.3(PLVAP):c.1180-4A>G	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088118	NM_031310.3(PLVAP):c.1179+17dup	PLVAP	Duplication (intron variant)	not provided	GBenign
Select item 1952190	NM_031310.3(PLVAP):c.1179+7T>C	PLVAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2242092	NM_031310.3(PLVAP):c.1172A>G (p.Lys391Arg)	PLVAP (K391R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2092595	NM_031310.3(PLVAP):c.1153G>A (p.Ala385Thr)	PLVAP (A385T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699977	NM_031310.3(PLVAP):c.1146A>G (p.Arg382=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044044	NM_031310.3(PLVAP):c.1121A>C (p.Gln374Pro)	PLVAP (Q374P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2896950	NM_031310.3(PLVAP):c.1116G>A (p.Ala372=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066102	NM_031310.3(PLVAP):c.1100AGA[2] (p.Lys369del)	PLVAP (K369del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2501702	NM_031310.3(PLVAP):c.1086del (p.Lys363fs)	PLVAP (K363fs)	Deletion (frameshift variant)	Diarrhea 10, protein-losing enteropathy type	GLikely pathogenic
Select item 590326	NM_031310.3(PLVAP):c.1072C>T (p.Arg358Ter)	PLVAP (R358*)	Single nucleotide variant (nonsense)	Diarrhea 10, protein-losing enteropathy type	GPathogenic
Select item 2022131	NM_031310.3(PLVAP):c.1068G>A (p.Lys356=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700713	NM_031310.3(PLVAP):c.1067A>C (p.Lys356Thr)	PLVAP (K356T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059976	NM_031310.3(PLVAP):c.1064G>A (p.Arg355Gln)	PLVAP (R355Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2189456	NM_031310.3(PLVAP):c.1055C>T (p.Ala352Val)	PLVAP (A352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881246	NM_031310.3(PLVAP):c.1041G>A (p.Ala347=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079287	NM_031310.3(PLVAP):c.1040C>T (p.Ala347Val)	PLVAP (A347V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2705088	NM_031310.3(PLVAP):c.1029G>A (p.Gln343=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165325	NM_031310.3(PLVAP):c.1024C>T (p.Arg342Trp)	PLVAP (R342W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2040628	NM_031310.3(PLVAP):c.1023C>G (p.Ser341=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2113032	NM_031310.3(PLVAP):c.1018T>A (p.Cys340Ser)	PLVAP (C340S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977991	NM_031310.3(PLVAP):c.1005G>A (p.Lys335=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534868	NM_031310.3(PLVAP):c.999G>T (p.Glu333Asp)	PLVAP (E333D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307873	NM_031310.3(PLVAP):c.994C>T (p.Arg332Trp)	PLVAP (R332W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182132	NM_031310.3(PLVAP):c.990G>A (p.Gln330=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076066	NM_031310.3(PLVAP):c.988C>G (p.Gln330Glu)	PLVAP (Q330E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 590327	NM_031310.3(PLVAP):c.988C>T (p.Gln330Ter)	PLVAP (Q330*)	Single nucleotide variant (nonsense)	Diarrhea 10, protein-losing enteropathy type	GPathogenic
Select item 2188600	NM_031310.3(PLVAP):c.978G>A (p.Glu326=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056978	NM_031310.3(PLVAP):c.952A>G (p.Ser318Gly)	PLVAP (S318G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468022	NM_031310.3(PLVAP):c.947G>A (p.Arg316Gln)	PLVAP (R316Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2200867	NM_031310.3(PLVAP):c.946C>T (p.Arg316Trp)	PLVAP (R316W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2242447	NM_031310.3(PLVAP):c.932C>T (p.Ala311Val)	PLVAP (A311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2913351	NM_031310.3(PLVAP):c.924G>A (p.Lys308=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777425	NM_031310.3(PLVAP):c.918C>T (p.Arg306=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981559	NM_031310.3(PLVAP):c.912C>T (p.Leu304=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052145	NM_031310.3(PLVAP):c.897C>T (p.Arg299=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192768	NM_031310.3(PLVAP):c.896G>A (p.Arg299His)	PLVAP (R299H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085668	NM_031310.3(PLVAP):c.889G>A (p.Val297Met)	PLVAP (V297M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302634	NM_031310.3(PLVAP):c.886C>A (p.Arg296Ser)	PLVAP (R296S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489283	NM_031310.3(PLVAP):c.884A>G (p.Glu295Gly)	PLVAP (E295G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2982535	NM_031310.3(PLVAP):c.882C>T (p.Ile294=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891768	NM_031310.3(PLVAP):c.882C>A (p.Ile294=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043953	NM_031310.3(PLVAP):c.876G>A (p.Ala292=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972422	NM_031310.3(PLVAP):c.872G>A (p.Arg291Gln)	PLVAP (R291Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2139596	NM_031310.3(PLVAP):c.871C>T (p.Arg291Trp)	PLVAP (R291W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004096	NM_031310.3(PLVAP):c.871C>A (p.Arg291=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957525	NM_031310.3(PLVAP):c.863G>A (p.Arg288Gln)	PLVAP (R288Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792836	NM_031310.3(PLVAP):c.847del (p.Val283fs)	PLVAP (V283fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2185041	NM_031310.3(PLVAP):c.844A>C (p.Lys282Gln)	PLVAP (K282Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097943	NM_031310.3(PLVAP):c.831C>T (p.Ser277=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3307875	NM_031310.3(PLVAP):c.830G>A (p.Ser277Asn)	PLVAP (S277N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2126464	NM_031310.3(PLVAP):c.824T>C (p.Met275Thr)	PLVAP (M275T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167921	NM_031310.3(PLVAP):c.816C>T (p.Cys272=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192056	NM_031310.3(PLVAP):c.809G>C (p.Arg270Thr)	PLVAP (R270T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2067026	NM_031310.3(PLVAP):c.805C>T (p.Arg269Cys)	PLVAP (R269C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062220	NM_031310.3(PLVAP):c.796G>C (p.Ala266Pro)	PLVAP (A266P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2899044	NM_031310.3(PLVAP):c.789G>A (p.Ser263=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976462	NM_031310.3(PLVAP):c.786C>A (p.Gly262=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215494	NM_031310.3(PLVAP):c.779C>A (p.Pro260His)	PLVAP (P260H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1943622	NM_031310.3(PLVAP):c.768C>T (p.Asn256=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181349	NM_031310.3(PLVAP):c.756C>T (p.Asn252=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984735	NM_031310.3(PLVAP):c.751G>A (p.Asp251Asn)	PLVAP (D251N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128712	NM_031310.3(PLVAP):c.714T>G (p.Arg238=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179259	NM_031310.3(PLVAP):c.713G>A (p.Arg238His)	PLVAP (R238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2504164	NM_031310.3(PLVAP):c.670_676del (p.Leu224fs)	PLVAP (L224fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 746471	NM_031310.3(PLVAP):c.648G>A (p.Glu216=)	PLVAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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