ClinVar for Gene (Select 8178) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275157	NM_006532.4(ELL):c.622C>T (p.Arg208Cys)	ELL (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275156	NM_006532.4(ELL):c.1045C>A (p.Gln349Lys)	ELL (Q349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275155	NM_006532.4(ELL):c.1043C>T (p.Ala348Val)	ELL (A348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275154	NM_006532.4(ELL):c.1672C>T (p.Arg558Trp)	ELL (R558W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275153	NM_006532.4(ELL):c.1473C>A (p.Asn491Lys)	ELL (N491K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088316	NM_006532.4(ELL):c.956C>G (p.Ser319Trp)	ELL (S319W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088315	NM_006532.4(ELL):c.940C>T (p.Arg314Cys)	ELL (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088314	NM_006532.4(ELL):c.533G>A (p.Arg178Gln)	ELL (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088313	NM_006532.4(ELL):c.515C>T (p.Ala172Val)	ELL (A172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088312	NM_006532.4(ELL):c.329G>A (p.Cys110Tyr)	ELL (C110Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088311	NM_006532.4(ELL):c.275G>T (p.Ser92Ile)	ELL (S92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088309	NM_006532.4(ELL):c.227C>T (p.Thr76Met)	ELL (T76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088308	NM_006532.4(ELL):c.214G>A (p.Ala72Thr)	ELL (A72T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088307	NM_006532.4(ELL):c.1660G>A (p.Asp554Asn)	ELL (D554N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088306	NM_006532.4(ELL):c.1502C>G (p.Thr501Arg)	ELL (T501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088305	NM_006532.4(ELL):c.1172C>T (p.Pro391Leu)	ELL (P391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088304	NM_006532.4(ELL):c.1120A>G (p.Ser374Gly)	ELL (S374G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622378	NM_006532.4(ELL):c.1382C>T (p.Ala461Val)	ELL (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600697	NM_006532.4(ELL):c.20A>G (p.Asp7Gly)	ELL (D7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599986	NM_006532.4(ELL):c.1216C>T (p.His406Tyr)	ELL (H406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598985	NM_006532.4(ELL):c.1400G>A (p.Arg467Gln)	ELL (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592353	NM_006532.4(ELL):c.1392C>G (p.Asp464Glu)	ELL (D464E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546372	NM_006532.4(ELL):c.994G>A (p.Asp332Asn)	ELL (D332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543512	NM_006532.4(ELL):c.601G>A (p.Gly201Arg)	ELL (G201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543004	NM_006532.4(ELL):c.264C>A (p.Asn88Lys)	ELL (N88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537607	NM_006532.4(ELL):c.722C>T (p.Ala241Val)	ELL (A241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522541	NM_006532.4(ELL):c.1714G>A (p.Gly572Arg)	ELL (G572R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521913	NM_006532.4(ELL):c.187A>G (p.Ile63Val)	ELL (I63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509600	NM_006532.4(ELL):c.970C>T (p.Arg324Trp)	ELL (R324W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493920	NM_006532.4(ELL):c.1277G>C (p.Gly426Ala)	ELL (G426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2407923	NM_006532.4(ELL):c.980C>T (p.Pro327Leu)	ELL (P327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401863	NM_006532.4(ELL):c.25A>G (p.Ser9Gly)	ELL (S9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401139	NM_006532.4(ELL):c.1760A>G (p.Asn587Ser)	ELL (N587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400961	NM_006532.4(ELL):c.22A>G (p.Arg8Gly)	ELL (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381880	NM_006532.4(ELL):c.191C>T (p.Ser64Phe)	ELL (S64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359316	NM_006532.4(ELL):c.1276G>A (p.Gly426Ser)	ELL (G426S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356831	NM_006532.4(ELL):c.859G>T (p.Val287Leu)	ELL (V287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323661	NM_006532.4(ELL):c.716A>G (p.Lys239Arg)	ELL (K239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312528	NM_006532.4(ELL):c.1663G>A (p.Ala555Thr)	ELL (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299408	NM_006532.4(ELL):c.248A>G (p.Asn83Ser)	ELL (N83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282906	NM_006532.4(ELL):c.878G>C (p.Cys293Ser)	ELL (C293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237116	NM_006532.4(ELL):c.1072G>A (p.Val358Met)	ELL (V358M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211560	NM_006532.4(ELL):c.1106C>T (p.Pro369Leu)	ELL (P369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1304815	NM_006532.4(ELL):c.1279C>T (p.Leu427=)	ELL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1227416	NM_006532.4(ELL):c.890G>A (p.Ser297Asn)	ELL (S297N)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54