USE1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2337925	NM_018467.4(USE1):c.55G>A (p.Ala19Thr)	USE1 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331259	NM_018467.4(USE1):c.77A>G (p.Asp26Gly)	USE1 (D26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298019	NM_018467.4(USE1):c.128T>G (p.Leu43Trp)	USE1 (L43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260574	NM_018467.4(USE1):c.233C>T (p.Thr78Ile)	USE1 (T78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211900	NM_018467.4(USE1):c.364C>T (p.Arg122Trp)	USE1 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411881	NM_018467.4(USE1):c.380G>A (p.Gly127Asp)	USE1 (G127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397423	NM_018467.4(USE1):c.383C>T (p.Thr128Met)	USE1 (T128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354447	NM_018467.4(USE1):c.389C>G (p.Ser130Cys)	USE1 (S130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360826	NM_018467.4(USE1):c.409G>A (p.Val137Ile)	USE1 (V137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471809	NM_018467.4(USE1):c.467C>T (p.Ala156Val)	USE1 (A156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623006	NM_018467.4(USE1):c.485T>G (p.Leu162Arg)	USE1 (L162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463813	NM_018467.4(USE1):c.518C>T (p.Ala173Val)	USE1 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331256	NM_018467.4(USE1):c.568G>A (p.Ala190Thr)	USE1 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221105	NM_018467.4(USE1):c.609C>G (p.His203Gln)	USE1 (H203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268091	NM_018467.4(USE1):c.650C>G (p.Thr217Arg)	USE1 (T217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331258	NM_018467.4(USE1):c.661C>T (p.Arg221Cys)	USE1 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466755	NM_018467.4(USE1):c.662G>A (p.Arg221His)	USE1 (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331257	NM_018467.4(USE1):c.707C>T (p.Ala236Val)	USE1 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345439	NM_018467.4(USE1):c.715A>T (p.Ile239Phe)	USE1 (I239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375473	NM_018467.4(USE1):c.748C>T (p.Leu250Phe)	USE1 (L250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331255	NM_018467.4(USE1):c.752T>G (p.Phe251Cys)	USE1 (F251C)	Single nucleotide variant (missense variant)	not specified	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 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 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 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	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
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance

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Items: 38