YJU2[gene] - ClinVar

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Items: 50

	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 3191545	NM_018074.6(YJU2):c.53C>T (p.Ser18Leu)	YJU2 (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191542	NM_018074.6(YJU2):c.223C>T (p.Arg75Cys)	YJU2 (R75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333695	NM_018074.6(YJU2):c.238T>C (p.Cys80Arg)	YJU2 (C80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333694	NM_018074.6(YJU2):c.299T>G (p.Met100Arg)	YJU2 (M100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191543	NM_018074.6(YJU2):c.384G>C (p.Glu128Asp)	YJU2 (E128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511915	NM_018074.6(YJU2):c.464A>G (p.Gln155Arg)	YJU2 (Q155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614850	NM_018074.6(YJU2):c.483C>A (p.Asn161Lys)	YJU2 (N161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616044	NM_018074.6(YJU2):c.511G>T (p.Ala171Ser)	YJU2 (A171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191544	NM_018074.6(YJU2):c.536C>T (p.Ser179Leu)	YJU2 (S179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191546	NM_018074.6(YJU2):c.548G>A (p.Arg183Gln)	YJU2 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191547	NM_018074.6(YJU2):c.551G>A (p.Arg184Gln)	YJU2 (R184Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191548	NM_018074.6(YJU2):c.582G>C (p.Glu194Asp)	YJU2 (E194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191549	NM_018074.6(YJU2):c.586G>A (p.Ala196Thr)	YJU2 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191550	NM_018074.6(YJU2):c.614G>A (p.Arg205Gln)	YJU2 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785913	NM_018074.6(YJU2):c.633C>T (p.Ser211=)	YJU2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551087	NM_018074.6(YJU2):c.659C>T (p.Ser220Leu)	YJU2 (S220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333691	NM_018074.6(YJU2):c.679C>T (p.Arg227Trp)	YJU2 (R227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191551	NM_018074.6(YJU2):c.680G>A (p.Arg227Gln)	YJU2 (R227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333692	NM_018074.6(YJU2):c.754G>A (p.Gly252Ser)	YJU2 (G252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191552	NM_018074.6(YJU2):c.793G>A (p.Val265Met)	YJU2 (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191553	NM_018074.6(YJU2):c.812C>G (p.Ala271Gly)	YJU2 (A271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559298	NM_018074.6(YJU2):c.817C>T (p.Pro273Ser)	YJU2 (P273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333693	NM_018074.6(YJU2):c.818C>G (p.Pro273Arg)	YJU2 (P273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191554	NM_018074.6(YJU2):c.832G>A (p.Gly278Arg)	YJU2 (G278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514419	NM_018074.6(YJU2):c.845C>T (p.Ala282Val)	YJU2 (A282V)	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: 50