EBI3[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 2320577	NM_005755.3(EBI3):c.37G>A (p.Ala13Thr)	EBI3 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216729	NM_005755.3(EBI3):c.40A>G (p.Ser14Gly)	EBI3 (S14G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376422	NM_005755.3(EBI3):c.95G>A (p.Arg32Gln)	EBI3 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086852	NM_005755.3(EBI3):c.142T>C (p.Trp48Arg)	EBI3 (W48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551567	NM_005755.3(EBI3):c.163A>G (p.Asn55Asp)	EBI3 (N55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274356	NM_005755.3(EBI3):c.178G>A (p.Val60Met)	EBI3 (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475566	NM_005755.3(EBI3):c.181T>G (p.Ser61Ala)	EBI3 (S61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785912	NM_005755.3(EBI3):c.200+3C>T	EBI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2463969	NM_005755.3(EBI3):c.218G>A (p.Arg73Gln)	EBI3 (R73Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086854	NM_005755.3(EBI3):c.231G>T (p.Trp77Cys)	EBI3 (W77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086855	NM_005755.3(EBI3):c.235T>C (p.Cys79Arg)	EBI3 (C79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223702	NM_005755.3(EBI3):c.253A>G (p.Thr85Ala)	EBI3 (T85A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269736	NM_005755.3(EBI3):c.385C>T (p.Pro129Ser)	EBI3 (P129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330834	NM_005755.3(EBI3):c.388G>A (p.Asp130Asn)	EBI3 (D130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274354	NM_005755.3(EBI3):c.403G>T (p.Val135Leu)	EBI3 (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359283	NM_005755.3(EBI3):c.406C>T (p.Arg136Cys)	EBI3 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378004	NM_005755.3(EBI3):c.407G>A (p.Arg136His)	EBI3 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782615	NM_005755.3(EBI3):c.409C>T (p.Leu137=)	EBI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086856	NM_005755.3(EBI3):c.428G>A (p.Arg143His)	EBI3 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484473	NM_005755.3(EBI3):c.442C>G (p.Gln148Glu)	EBI3 (Q148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287784	NM_005755.3(EBI3):c.498G>T (p.Trp166Cys)	EBI3 (W166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086857	NM_005755.3(EBI3):c.539T>G (p.Val180Gly)	EBI3 (V180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274358	NM_005755.3(EBI3):c.557C>T (p.Thr186Met)	EBI3 (T186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274357	NM_005755.3(EBI3):c.560C>T (p.Ser187Phe)	EBI3 (S187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319244	NM_005755.3(EBI3):c.613G>T (p.Ala205Ser)	EBI3 (A205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296247	NM_005755.3(EBI3):c.626C>G (p.Thr209Arg)	EBI3 (T209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357373	NM_005755.3(EBI3):c.665C>G (p.Thr222Ser)	EBI3 (T222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274359	NM_005755.3(EBI3):c.671C>T (p.Thr224Ile)	EBI3 (T224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
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 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	PIAS4, SHD +12 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
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 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
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

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Items: 53