ClinVar for Gene (Select 976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271209	NM_078481.4(ADGRE5):c.1940G>A (p.Gly647Asp)	ADGRE5 (G647D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271198	NM_078481.4(ADGRE5):c.1082C>T (p.Thr361Ile)	ADGRE5, LOC126862868 (T361I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271191	NM_078481.4(ADGRE5):c.2284G>C (p.Asp762His)	ADGRE5 (D762H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271183	NM_078481.4(ADGRE5):c.2059G>A (p.Asp687Asn)	ADGRE5 (D687N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271172	NM_078481.4(ADGRE5):c.2284G>A (p.Asp762Asn)	ADGRE5 (D762N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271162	NM_078481.4(ADGRE5):c.2449A>T (p.Thr817Ser)	ADGRE5, LOC130063779 (T724S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271155	NM_078481.4(ADGRE5):c.1417G>A (p.Asp473Asn)	ADGRE5 (D424N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271144	NM_078481.4(ADGRE5):c.2270T>A (p.Leu757Gln)	ADGRE5 (L708Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271133	NM_078481.4(ADGRE5):c.508C>T (p.Pro170Ser)	ADGRE5, LOC126862867 (P170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271122	NM_078481.4(ADGRE5):c.707G>A (p.Arg236His)	ADGRE5 (R236H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085100	NM_078481.4(ADGRE5):c.976A>T (p.Ile326Leu)	ADGRE5 (I233L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085096	NM_078481.4(ADGRE5):c.91C>T (p.Pro31Ser)	ADGRE5 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085095	NM_078481.4(ADGRE5):c.866C>A (p.Ser289Tyr)	ADGRE5 (S240Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085094	NM_078481.4(ADGRE5):c.853C>G (p.Leu285Val)	ADGRE5 (L192V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085090	NM_078481.4(ADGRE5):c.706C>T (p.Arg236Cys)	ADGRE5 (R236C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085079	NM_078481.4(ADGRE5):c.503A>C (p.Gln168Pro)	ADGRE5, LOC126862867 (Q168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085073	NM_078481.4(ADGRE5):c.355G>A (p.Glu119Lys)	ADGRE5 (E119K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085071	NM_078481.4(ADGRE5):c.268G>A (p.Asp90Asn)	ADGRE5 (D90N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085063	NM_078481.4(ADGRE5):c.2416G>A (p.Gly806Arg)	ADGRE5, LOC130063779 (G806R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085046	NM_078481.4(ADGRE5):c.2306A>G (p.Tyr769Cys)	ADGRE5 (Y676C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085034	NM_078481.4(ADGRE5):c.212C>T (p.Pro71Leu)	ADGRE5 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085026	NM_078481.4(ADGRE5):c.1880T>C (p.Phe627Ser)	ADGRE5 (F627S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085020	NM_078481.4(ADGRE5):c.1805A>C (p.Glu602Ala)	ADGRE5 (E509A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085012	NM_078481.4(ADGRE5):c.1736G>A (p.Arg579His)	ADGRE5 (R579H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084983	NM_078481.4(ADGRE5):c.1391T>C (p.Phe464Ser)	ADGRE5 (F415S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084980	NM_078481.4(ADGRE5):c.1379C>G (p.Ser460Cys)	ADGRE5 (S367C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084976	NM_078481.4(ADGRE5):c.1333G>A (p.Val445Ile)	ADGRE5 (V352I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084970	NM_078481.4(ADGRE5):c.1303C>T (p.Arg435Cys)	ADGRE5, LOC126862868 (R342C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084961	NM_078481.4(ADGRE5):c.1153T>C (p.Trp385Arg)	ADGRE5, LOC126862868 (W336R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084947	NM_078481.4(ADGRE5):c.104C>T (p.Ser35Leu)	ADGRE5 (S35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2649421	NM_078481.4(ADGRE5):c.1743C>T (p.Thr581=)	ADGRE5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649420	NM_078481.4(ADGRE5):c.798G>A (p.Pro266=)	ADGRE5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621256	NM_078481.4(ADGRE5):c.2362C>G (p.Leu788Val)	ADGRE5 (L739V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620906	NM_078481.4(ADGRE5):c.1319G>A (p.Arg440Lys)	ADGRE5, LOC126862868 (R440K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618450	NM_078481.4(ADGRE5):c.2344C>T (p.Leu782Phe)	ADGRE5 (L733F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614796	NM_078481.4(ADGRE5):c.643T>A (p.Ser215Thr)	ADGRE5 (S122T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602029	NM_078481.4(ADGRE5):c.509C>T (p.Pro170Leu)	ADGRE5, LOC126862867 (P170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597591	NM_078481.4(ADGRE5):c.1908G>T (p.Glu636Asp)	ADGRE5 (E543D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591368	NM_078481.4(ADGRE5):c.2468A>G (p.Asn823Ser)	ADGRE5, LOC130063779 (N730S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548117	NM_078481.4(ADGRE5):c.1304G>A (p.Arg435His)	ADGRE5, LOC126862868 (R386H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544896	NM_078481.4(ADGRE5):c.2257T>A (p.Trp753Arg)	ADGRE5 (W660R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540106	NM_078481.4(ADGRE5):c.1419T>G (p.Asp473Glu)	ADGRE5 (D380E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535059	NM_078481.4(ADGRE5):c.2425A>C (p.Lys809Gln)	ADGRE5, LOC130063779 (K716Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526748	NM_078481.4(ADGRE5):c.1417G>C (p.Asp473His)	ADGRE5 (D473H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517951	NM_078481.4(ADGRE5):c.806G>C (p.Gly269Ala)	ADGRE5 (G176A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513411	NM_078481.4(ADGRE5):c.1746A>G (p.Ile582Met)	ADGRE5 (I489M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512487	NM_078481.4(ADGRE5):c.2377G>A (p.Val793Ile)	ADGRE5, LOC130063779 (V744I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508011	NM_078481.4(ADGRE5):c.1801A>G (p.Ile601Val)	ADGRE5 (I601V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466768	NM_078481.4(ADGRE5):c.1615C>T (p.His539Tyr)	ADGRE5 (H490Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466165	NM_078481.4(ADGRE5):c.569C>T (p.Pro190Leu)	ADGRE5, LOC126862867 (P190L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410369	NM_078481.4(ADGRE5):c.1361A>C (p.Asn454Thr)	ADGRE5 (N405T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408738	NM_078481.4(ADGRE5):c.1583G>A (p.Ser528Asn)	ADGRE5 (S435N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403845	NM_078481.4(ADGRE5):c.1468C>T (p.Arg490Trp)	ADGRE5 (R397W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400165	NM_078481.4(ADGRE5):c.616G>A (p.Val206Ile)	ADGRE5, LOC126862867 (V206I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396519	NM_078481.4(ADGRE5):c.541G>C (p.Val181Leu)	ADGRE5, LOC126862867 (V181L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389653	NM_078481.4(ADGRE5):c.2477G>A (p.Arg826Gln)	ADGRE5, LOC130063779 (R826Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368219	NM_078481.4(ADGRE5):c.2277C>G (p.Ile759Met)	ADGRE5 (I666M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366277	NM_078481.4(ADGRE5):c.2500G>A (p.Gly834Ser)	ADGRE5 (G741S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362670	NM_078481.4(ADGRE5):c.1043G>A (p.Gly348Asp)	ADGRE5 (G348D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362194	NM_078481.4(ADGRE5):c.713G>A (p.Arg238His)	ADGRE5 (R238H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361484	NM_078481.4(ADGRE5):c.391G>A (p.Gly131Ser)	ADGRE5 (G131S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360959	NM_078481.4(ADGRE5):c.1507G>A (p.Asp503Asn)	ADGRE5 (D503N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355369	NM_078481.4(ADGRE5):c.2417G>C (p.Gly806Ala)	ADGRE5, LOC130063779 (G713A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347904	NM_078481.4(ADGRE5):c.2380C>T (p.Arg794Trp)	ADGRE5, LOC130063779 (R701W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319344	NM_078481.4(ADGRE5):c.1141A>G (p.Met381Val)	ADGRE5, LOC126862868 (M332V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315646	NM_078481.4(ADGRE5):c.2108T>A (p.Ile703Asn)	ADGRE5 (I610N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312584	NM_078481.4(ADGRE5):c.1022T>G (p.Leu341Arg)	ADGRE5 (L292R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311046	NM_078481.4(ADGRE5):c.1046C>T (p.Pro349Leu)	ADGRE5, LOC126862868 (P256L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280659	NM_078481.4(ADGRE5):c.1670T>A (p.Leu557Gln)	ADGRE5 (L508Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266949	NM_078481.4(ADGRE5):c.1606C>G (p.Leu536Val)	ADGRE5 (L443V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260921	NM_078481.4(ADGRE5):c.1135G>A (p.Ala379Thr)	ADGRE5, LOC126862868 (A379T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260650	NM_078481.4(ADGRE5):c.1812A>C (p.Glu604Asp)	ADGRE5 (E555D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258432	NM_078481.4(ADGRE5):c.2387A>T (p.Glu796Val)	ADGRE5, LOC130063779 (E703V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256366	NM_078481.4(ADGRE5):c.1656G>C (p.Arg552Ser)	ADGRE5, LOC121627857 (R503S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253700	NM_078481.4(ADGRE5):c.667T>A (p.Ser223Thr)	ADGRE5 (S174T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239054	NM_078481.4(ADGRE5):c.1280A>G (p.Glu427Gly)	ADGRE5, LOC126862868 (E427G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217997	NM_078481.4(ADGRE5):c.968G>A (p.Arg323Gln)	ADGRE5 (R274Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213948	NM_078481.4(ADGRE5):c.62A>G (p.Gln21Arg)	ADGRE5 (Q21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212510	NM_078481.4(ADGRE5):c.1131C>G (p.Ser377Arg)	ADGRE5, LOC126862868 (S328R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206841	NM_078481.4(ADGRE5):c.1337A>G (p.Asn446Ser)	ADGRE5 (N446S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 791352	NM_078481.4(ADGRE5):c.1183+10G>A	ADGRE5, LOC126862868	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715742	NM_078481.4(ADGRE5):c.1113C>T (p.Asn371=)	ADGRE5, LOC126862868	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710945	NM_078481.4(ADGRE5):c.1998C>G (p.Ile666Met)	ADGRE5 (I573M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708617	NM_078481.4(ADGRE5):c.1905G>A (p.Leu635=)	ADGRE5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
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

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