Related gene-specific medical variations for Gene (Select 79650) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2721301	NM_024598.4(USB1):c.75G>A (p.Arg25=)	LOC130059131, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2683370	NM_024598.4(USB1):c.79G>A (p.Gly27Arg)	LOC130059131, USB1 (G27R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190624	NM_024598.4(USB1):c.6C>T (p.Ser2=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175179	NM_024598.4(USB1):c.18G>A (p.Leu6=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2058902	NM_024598.4(USB1):c.30C>T (p.Ser10=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1992602	NM_024598.4(USB1):c.87_98+13del	LOC130059131, USB1	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1800912	NM_001330568.2(USB1):c.-55-1189C>G	LOC112469011, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706949	NM_001330568.2(USB1):c.-55-1174T>G	LOC112469011, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706801	NM_024598.4(USB1):c.-51G>C	LOC112469011, USB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1669830	NM_024598.4(USB1):c.98+15A>G	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586519	NM_024598.4(USB1):c.98+20C>T	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557868	NM_024598.4(USB1):c.98+20C>G	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1453838	NM_024598.4(USB1):c.16del (p.Leu6fs)	LOC112469011, USB1 (L6fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1444921	NM_024598.4(USB1):c.1A>G (p.Met1Val)	LOC112469011, USB1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1422881	NM_024598.4(USB1):c.11C>G (p.Ala4Gly)	LOC112469011, USB1 (A4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1417003	NM_024598.4(USB1):c.11C>A (p.Ala4Glu)	LOC112469011, USB1 (A4E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414559	NM_024598.4(USB1):c.3G>C (p.Met1Ile)	LOC112469011, USB1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1409669	NM_024598.4(USB1):c.74G>C (p.Arg25Thr)	LOC130059131, USB1 (R25T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1394590	NM_024598.4(USB1):c.28A>G (p.Ser10Gly)	LOC112469011, USB1 (S10G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1368951	NM_024598.4(USB1):c.23G>A (p.Gly8Asp)	LOC112469011, USB1 (G8D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1350383	NM_024598.4(USB1):c.98+5G>C	LOC130059131, USB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1326453	NM_024598.4(USB1):c.-1dup (p.Met1fs)	LOC112469011, USB1 (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1326260	NM_024598.3:c.334dup	USB1	Duplication	Poikiloderma with neutropenia	GPathogenic
Select item 1163390	NM_024598.4(USB1):c.74G>A (p.Arg25Lys)	LOC130059131, USB1 (R25K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 852007	NM_024598.4(USB1):c.20T>C (p.Val7Ala)	LOC112469011, USB1 (V7A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 748273	NM_024598.4(USB1):c.78G>C (p.Pro26=)	LOC130059131, USB1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26