Related gene-specific medical variations for Gene (Select 23404) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276831	NM_014285.7(EXOSC2):c.86C>T (p.Pro29Leu)	EXOSC2, LOC130002815 (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3003575	NM_014285.7(EXOSC2):c.361-15C>T	EXOSC2, LOC130002816	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967282	NM_014285.7(EXOSC2):c.361-11G>A	EXOSC2, LOC130002816	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841281	NM_014285.7(EXOSC2):c.87G>A (p.Pro29=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2442149	NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)	EXOSC2 (W174* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	GLikely pathogenic
Select item 2311789	NM_014285.7(EXOSC2):c.97A>G (p.Ile33Val)	EXOSC2, LOC130002815 (I33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2022858	NM_014285.7(EXOSC2):c.114A>G (p.Gly38=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926802	NM_014285.7(EXOSC2):c.68A>G (p.Lys23Arg)	EXOSC2, LOC130002815 (K23R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923773	NM_014285.7(EXOSC2):c.65C>G (p.Thr22Ser)	EXOSC2, LOC130002815 (T22S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1921236	NM_014285.7(EXOSC2):c.122+2T>G	EXOSC2, LOC130002815	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1903868	NM_014285.7(EXOSC2):c.60C>A (p.Arg20=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1652225	NM_014285.7(EXOSC2):c.361-15C>A	EXOSC2, LOC130002816	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637813	NM_014285.7(EXOSC2):c.361-16del	EXOSC2, LOC130002816	Deletion (intron variant)	not provided	GLikely benign
Select item 1587553	NM_014285.7(EXOSC2):c.63C>T (p.Asp21=)	LOC130002815, EXOSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1551494	NM_014285.7(EXOSC2):c.75T>C (p.His25=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529888	NM_014285.7(EXOSC2):c.117C>T (p.Phe39=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529708	NM_014285.7(EXOSC2):c.122+13T>C	EXOSC2, LOC130002815	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522005	NM_014285.7(EXOSC2):c.107A>T (p.Asp36Val)	EXOSC2, LOC130002815 (D36V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519614	NM_014285.7(EXOSC2):c.64A>C (p.Thr22Pro)	EXOSC2, LOC130002815 (T22P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504157	NM_014285.7(EXOSC2):c.95C>A (p.Thr32Lys)	EXOSC2, LOC130002815 (T32K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1501466	NM_014285.7(EXOSC2):c.92A>T (p.Asp31Val)	EXOSC2, LOC130002815 (D31V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1493983	NM_014285.7(EXOSC2):c.120_121delinsAA (p.Met40Ile)	EXOSC2, LOC130002815 (M40I)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1490530	NM_014285.7(EXOSC2):c.64A>G (p.Thr22Ala)	EXOSC2, LOC130002815 (T22A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482502	NM_014285.7(EXOSC2):c.118A>T (p.Met40Leu)	EXOSC2, LOC130002815 (M40L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1379198	NM_014285.7(EXOSC2):c.91G>C (p.Asp31His)	EXOSC2, LOC130002815 (D31H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369905	NM_014285.7(EXOSC2):c.122+5G>A	EXOSC2, LOC130002815	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1348896	NM_014285.7(EXOSC2):c.58C>A (p.Arg20Ser)	EXOSC2, LOC130002815 (R20S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1131664	NM_014285.7(EXOSC2):c.96A>G (p.Thr32=)	EXOSC2, LOC130002815	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 959140	NM_014285.7(EXOSC2):c.122+4C>T	EXOSC2, LOC130002815	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 446202	NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)	EXOSC2, LOC130002815 (G30V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 30