24634[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRL1, ADGRL1-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 2369581	NM_001258374.3(EPS15L1):c.2425G>A (p.Glu809Lys)	EPS15L1 (E809K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2338426	NM_001258374.3(EPS15L1):c.2370A>T (p.Lys790Asn)	EPS15L1 (K790N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2493259	NM_001258374.3(EPS15L1):c.2353G>C (p.Ala785Pro)	EPS15L1 (A785P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2546479	NM_001258374.3(EPS15L1):c.2339C>G (p.Pro780Arg)	EPS15L1 (P780R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2224358	NM_001258374.3(EPS15L1):c.2329C>G (p.Pro777Ala)	EPS15L1 (P777A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269469	NM_001258374.3(EPS15L1):c.2251C>T (p.Pro751Ser)	EPS15L1 (P751S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2283813	NM_001258374.3(EPS15L1):c.2085C>G (p.Asn695Lys)	EPS15L1 (N695K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207139	NM_001258374.3(EPS15L1):c.2008C>T (p.Arg670Cys)	EPS15L1 (R670C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384603	NM_001258374.3(EPS15L1):c.1922C>T (p.Pro641Leu)	EPS15L1 (P641L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326092	NM_001258374.3(EPS15L1):c.1921C>T (p.Pro641Ser)	EPS15L1 (P641S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608271	NM_001258374.3(EPS15L1):c.1880A>G (p.Lys627Arg)	EPS15L1 (K627R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508281	NM_001258374.3(EPS15L1):c.1835C>T (p.Thr612Met)	EPS15L1 (T612M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536141	NM_001258374.3(EPS15L1):c.1661G>T (p.Arg554Leu)	EPS15L1 (R554L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386402	NM_001258374.3(EPS15L1):c.1660C>T (p.Arg554Cys)	EPS15L1 (R554C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324127	NM_001258374.3(EPS15L1):c.1658G>A (p.Ser553Asn)	EPS15L1 (S553N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594061	NM_001258374.3(EPS15L1):c.1601A>G (p.Lys534Arg)	EPS15L1 (K534R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2324215	NM_001258374.3(EPS15L1):c.1510G>A (p.Glu504Lys)	EPS15L1 (E504K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409257	NM_001258374.3(EPS15L1):c.1379G>A (p.Arg460Gln)	EPS15L1 (R460Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2553026	NM_001258374.3(EPS15L1):c.1372A>G (p.Lys458Glu)	EPS15L1 (K458E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481859	NM_001258374.3(EPS15L1):c.1308G>T (p.Gln436His)	EPS15L1 (Q436H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474907	NM_001258374.3(EPS15L1):c.1223G>A (p.Arg408Gln)	EPS15L1 (R408Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375917	NM_001258374.3(EPS15L1):c.1056A>C (p.Gln352His)	EPS15L1 (Q352H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239225	NM_001258374.3(EPS15L1):c.843G>C (p.Glu281Asp)	EPS15L1 (E281D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465016	NM_001258374.3(EPS15L1):c.733G>A (p.Val245Ile)	EPS15L1 (V245I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600595	NM_001258374.3(EPS15L1):c.716C>T (p.Thr239Met)	EPS15L1 (T239M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347189	NM_001258374.3(EPS15L1):c.710G>A (p.Arg237His)	EPS15L1 (R237H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289345	NM_001258374.3(EPS15L1):c.652G>A (p.Val218Met)	EPS15L1 (V218M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300698	NM_001258374.3(EPS15L1):c.632C>A (p.Pro211His)	EPS15L1 (P211H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533759	NM_001258374.3(EPS15L1):c.545A>C (p.Asp182Ala)	EPS15L1 (D182A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473104	NM_001258374.3(EPS15L1):c.463A>C (p.Met155Leu)	EPS15L1 (M155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1703755	NM_001258374.3(EPS15L1):c.409del (p.Ser137fs)	EPS15L1 (S137fs)	Deletion (frameshift variant +1 more)	not provided	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 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ABHD8, ANKLE1 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

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Items: 44