USF2[gene] - ClinVar

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Items: 47

	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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 3187014	NM_003367.4(USF2):c.13G>C (p.Asp5His)	USF2 (D5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523154	NM_003367.4(USF2):c.38C>T (p.Ser13Leu)	USF2 (S13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187020	NM_003367.4(USF2):c.64C>A (p.His22Asn)	LOC130064217, USF2 (H22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187021	NM_003367.4(USF2):c.87G>T (p.Glu29Asp)	LOC130064217, USF2 (E29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331264	NM_003367.4(USF2):c.146T>G (p.Val49Gly)	USF2 (V49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525134	NM_003367.4(USF2):c.152T>G (p.Ile51Ser)	USF2 (I51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331267	NM_003367.4(USF2):c.185A>T (p.His62Leu)	USF2 (H62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296276	NM_003367.4(USF2):c.185A>G (p.His62Arg)	USF2 (H62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187015	NM_003367.4(USF2):c.205C>T (p.Arg69Cys)	USF2 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187016	NM_003367.4(USF2):c.271G>C (p.Gly91Arg)	LOC130064218, USF2 (G91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604201	NM_003367.4(USF2):c.271G>A (p.Gly91Ser)	LOC130064218, USF2 (G91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331265	NM_003367.4(USF2):c.349G>C (p.Val117Leu)	LOC130064218, USF2 (V117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380317	NM_003367.4(USF2):c.374G>A (p.Arg125His)	LOC130064218, USF2 (R125H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340966	NM_003367.4(USF2):c.403C>T (p.Pro135Ser)	LOC130064218, USF2 (P135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187017	NM_003367.4(USF2):c.478G>A (p.Ala160Thr)	USF2 (A160T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187018	NM_003367.4(USF2):c.493G>T (p.Ala165Ser)	USF2 (A165S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245699	NM_003367.4(USF2):c.493G>A (p.Ala165Thr)	USF2 (A98T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161613	NM_003367.4(USF2):c.497G>A (p.Arg166Gln)	USF2 (R166Q +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3331262	NM_003367.4(USF2):c.533C>A (p.Thr178Asn)	USF2 (T111N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306489	NM_003367.4(USF2):c.535A>G (p.Thr179Ala)	USF2 (T112A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331261	NM_003367.4(USF2):c.632A>C (p.Gln211Pro)	USF2 (Q144P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247599	NM_003367.4(USF2):c.659C>T (p.Pro220Leu)	USF2 (P89L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394356	NM_003367.4(USF2):c.677A>G (p.Asp226Gly)	USF2 (D159G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331266	NM_003367.4(USF2):c.739C>T (p.Arg247Trp)	USF2 (R247W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331263	NM_003367.4(USF2):c.917G>A (p.Arg306Gln)	USF2 (R239Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263174	NM_003367.4(USF2):c.934G>A (p.Glu312Lys)	USF2 (E181K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226398	NM_003367.4(USF2):c.954C>G (p.Ile318Met)	USF2 (I251M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 687741	GRCh37/hg19 19q13.12(chr19:35548527-35772471)x3	FAM187B, FXYD1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221398	GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3	CD22, DMKN +18 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 47