ClinVar for Gene (Select 2015) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341546	NM_001974.5(ADGRE1):c.1776G>A (p.Ala592=)	ADGRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3270912	NM_001974.5(ADGRE1):c.1969C>T (p.His657Tyr)	ADGRE1 (H657Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270901	NM_001974.5(ADGRE1):c.1864G>A (p.Ala622Thr)	ADGRE1 (A570T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270890	NM_001974.5(ADGRE1):c.392C>T (p.Thr131Ile)	ADGRE1 (T131I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270881	NM_001974.5(ADGRE1):c.1399A>G (p.Ile467Val)	ADGRE1 (I290V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270871	NM_001974.5(ADGRE1):c.517G>A (p.Val173Met)	ADGRE1 (V173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270860	NM_001974.5(ADGRE1):c.1780G>A (p.Gly594Arg)	ADGRE1 (G417R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3084678	NM_001974.5(ADGRE1):c.895G>A (p.Gly299Ser)	ADGRE1 (G247S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084672	NM_001974.5(ADGRE1):c.854G>T (p.Cys285Phe)	ADGRE1 (C233F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084665	NM_001974.5(ADGRE1):c.764G>A (p.Gly255Glu)	ADGRE1 (G114E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084660	NM_001974.5(ADGRE1):c.71C>T (p.Pro24Leu)	ADGRE1 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084654	NM_001974.5(ADGRE1):c.617G>T (p.Ser206Ile)	ADGRE1 (S206I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084646	NM_001974.5(ADGRE1):c.509G>C (p.Cys170Ser)	ADGRE1 (C118S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084632	NM_001974.5(ADGRE1):c.449A>C (p.Asn150Thr)	ADGRE1 (N98T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084616	NM_001974.5(ADGRE1):c.2555G>A (p.Arg852Gln)	ADGRE1 (R675Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084615	NM_001974.5(ADGRE1):c.2512G>A (p.Ala838Thr)	ADGRE1 (A697T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084611	NM_001974.5(ADGRE1):c.2284A>G (p.Ile762Val)	ADGRE1 (I585V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084594	NM_001974.5(ADGRE1):c.1859C>T (p.Ala620Val)	ADGRE1 (A620V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084586	NM_001974.5(ADGRE1):c.1775C>T (p.Ala592Val)	ADGRE1 (A415V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084582	NM_001974.5(ADGRE1):c.1744A>C (p.Asn582His)	ADGRE1 (N582H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084579	NM_001974.5(ADGRE1):c.1739G>A (p.Ser580Asn)	ADGRE1 (S528N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084548	NM_001974.5(ADGRE1):c.1449T>G (p.Phe483Leu)	ADGRE1 (F306L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084540	NM_001974.5(ADGRE1):c.1286G>A (p.Arg429Gln)	ADGRE1 (R252Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084534	NM_001974.5(ADGRE1):c.1229A>C (p.Glu410Ala)	ADGRE1 (E233A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084528	NM_001974.5(ADGRE1):c.1196C>A (p.Ser399Tyr)	ADGRE1 (S258Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084522	NM_001974.5(ADGRE1):c.1118T>A (p.Leu373Gln)	ADGRE1 (L196Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084517	NM_001974.5(ADGRE1):c.1108G>T (p.Val370Leu)	ADGRE1 (V370L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084495	NM_001974.5(ADGRE1):c.1003C>A (p.Gln335Lys)	ADGRE1 (Q335K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047207	NM_001974.5(ADGRE1):c.1621-4_1621-3dup	ADGRE1	Duplication (intron variant)	ADGRE1-related disorder	GLikely benign
Select item 3038665	NM_001974.5(ADGRE1):c.2006C>T (p.Ala669Val)	LOC130063345, ADGRE1 (A669V +4 more)	Single nucleotide variant (missense variant)	ADGRE1-related disorder	GLikely benign
Select item 3024979	NM_001974.5(ADGRE1):c.975T>C (p.Asp325=)	ADGRE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2672738	NM_001974.5(ADGRE1):c.2289+47A>T	ADGRE1 (E727V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2649147	NM_001974.5(ADGRE1):c.1464G>A (p.Ser488=)	ADGRE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611004	NM_001974.5(ADGRE1):c.979A>T (p.Ile327Leu)	ADGRE1 (I327L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607343	NM_001974.5(ADGRE1):c.1166C>A (p.Thr389Lys)	ADGRE1 (T212K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601330	NM_001974.5(ADGRE1):c.1601A>G (p.Tyr534Cys)	ADGRE1 (Y393C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543379	NM_001974.5(ADGRE1):c.1546G>C (p.Val516Leu)	ADGRE1 (V516L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539228	NM_001974.5(ADGRE1):c.384C>A (p.Phe128Leu)	ADGRE1 (F128L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538457	NM_001974.5(ADGRE1):c.1058T>G (p.Ile353Arg)	ADGRE1 (I176R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523763	NM_001974.5(ADGRE1):c.374C>T (p.Pro125Leu)	ADGRE1 (P125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522449	NM_001974.5(ADGRE1):c.1016G>A (p.Gly339Glu)	ADGRE1 (G287E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485155	NM_001974.5(ADGRE1):c.533A>G (p.Asp178Gly)	ADGRE1 (D126G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467473	NM_001974.5(ADGRE1):c.961A>G (p.Lys321Glu)	ADGRE1 (K180E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460425	NM_001974.5(ADGRE1):c.798T>G (p.Cys266Trp)	ADGRE1 (C266W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455155	NM_001974.5(ADGRE1):c.2621T>C (p.Ile874Thr)	ADGRE1 (I697T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454993	NM_001974.5(ADGRE1):c.1550G>C (p.Gly517Ala)	ADGRE1 (G376A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2401837	NM_001974.5(ADGRE1):c.1621C>G (p.Pro541Ala)	ADGRE1 (P364A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388471	NM_001974.5(ADGRE1):c.467G>A (p.Ser156Asn)	ADGRE1 (S156N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379103	NM_001974.5(ADGRE1):c.415A>G (p.Ser139Gly)	ADGRE1 (S139G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371443	NM_001974.5(ADGRE1):c.1108G>A (p.Val370Ile)	ADGRE1 (V229I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369252	NM_001974.5(ADGRE1):c.1963G>A (p.Gly655Ser)	ADGRE1 (G514S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365834	NM_001974.5(ADGRE1):c.474C>A (p.Ser158Arg)	ADGRE1 (S158R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347576	NM_001974.5(ADGRE1):c.1103C>T (p.Thr368Met)	ADGRE1 (T368M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345578	NM_001974.5(ADGRE1):c.164A>G (p.Tyr55Cys)	ADGRE1 (Y55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341049	NM_001974.5(ADGRE1):c.1313A>C (p.Lys438Thr)	ADGRE1 (K297T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338885	NM_001974.5(ADGRE1):c.2267G>A (p.Gly756Glu)	ADGRE1 (G579E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334160	NM_001974.5(ADGRE1):c.1520T>A (p.Ile507Asn)	ADGRE1 (I366N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332722	NM_001974.5(ADGRE1):c.2212A>G (p.Met738Val)	ADGRE1 (M673V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331587	NM_001974.5(ADGRE1):c.1831A>G (p.Ile611Val)	ADGRE1 (I470V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327411	NM_001974.5(ADGRE1):c.1796A>C (p.Asp599Ala)	ADGRE1 (D422A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311492	NM_001974.5(ADGRE1):c.2622C>G (p.Ile874Met)	ADGRE1 (I733M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306729	NM_001974.5(ADGRE1):c.1921C>T (p.Leu641Phe)	ADGRE1 (L464F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305287	NM_001974.5(ADGRE1):c.2246G>T (p.Gly749Val)	ADGRE1 (G749V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303208	NM_001974.5(ADGRE1):c.1700G>A (p.Cys567Tyr)	ADGRE1 (C426Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281757	NM_001974.5(ADGRE1):c.904C>A (p.Pro302Thr)	ADGRE1 (P250T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271000	NM_001974.5(ADGRE1):c.692T>A (p.Ile231Asn)	ADGRE1 (I231N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268987	NM_001974.5(ADGRE1):c.170C>T (p.Ala57Val)	ADGRE1 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230199	NM_001974.5(ADGRE1):c.421G>A (p.Val141Ile)	ADGRE1 (V141I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229148	NM_001974.5(ADGRE1):c.1101A>C (p.Lys367Asn)	ADGRE1 (K315N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221438	NM_001974.5(ADGRE1):c.1359G>C (p.Leu453Phe)	ADGRE1 (L312F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215343	NM_001974.5(ADGRE1):c.1357T>G (p.Leu453Val)	ADGRE1 (L453V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203786	NM_001974.5(ADGRE1):c.2246G>C (p.Gly749Ala)	ADGRE1 (G608A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781381	NM_001974.5(ADGRE1):c.2654C>T (p.Thr885Met)	ADGRE1 (T885M +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777391	NM_001974.5(ADGRE1):c.2638C>A (p.Pro880Thr)	ADGRE1 (P739T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777390	NM_001974.5(ADGRE1):c.2382-4C>T	ADGRE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775402	NM_001974.5(ADGRE1):c.5G>T (p.Arg2Leu)	ADGRE1, LOC130063344 (R2L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770804	NM_001974.5(ADGRE1):c.274G>C (p.Gly92Arg)	ADGRE1 (G92R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 742124	NM_001974.5(ADGRE1):c.1290G>A (p.Thr430=)	ADGRE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
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 152963	GRCh38/hg38 19p13.2(chr19:6916228-7103344)x3	ADGRE1, LOC129391044 +11 more	Copy number gain	See cases	GBenign
Select item 151462	GRCh38/hg38 19p13.2(chr19:6916228-7103285)x3	ADGRE1, LOC129391044 +11 more	Copy number gain	See cases	GBenign
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 149919	GRCh38/hg38 19p13.2(chr19:6916104-7103194)x3	ADGRE1, LOC129391044 +11 more	Copy number gain	See cases	GLikely benign
Select item 147937	GRCh38/hg38 19p13.3-13.2(chr19:6870105-7103344)x3	ADGRE1, LOC129391044 +12 more	Copy number gain	See cases	GBenign
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 90