ClinVar for Gene (Select 84749) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331437	NM_032663.5(USP30):c.1282G>A (p.Asp428Asn)	USP30 (D397N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331436	NM_032663.5(USP30):c.1265C>T (p.Pro422Leu)	USP30 (P391L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331435	NM_032663.5(USP30):c.611C>T (p.Thr204Ile)	USP30 (T173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187383	NM_032663.5(USP30):c.694A>G (p.Met232Val)	USP30 (M201V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187382	NM_032663.5(USP30):c.194G>A (p.Gly65Glu)	USP30 (G34E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187381	NM_032663.5(USP30):c.1534G>A (p.Glu512Lys)	USP30 (E481K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187380	NM_032663.5(USP30):c.14G>A (p.Arg5Gln)	USP30, USP30-AS1 (R5Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3187379	NM_032663.5(USP30):c.1475C>T (p.Ser492Phe)	USP30 (S461F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187378	NM_032663.5(USP30):c.1349C>A (p.Ser450Tyr)	USP30 (S450Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187377	NM_032663.5(USP30):c.1288A>G (p.Ser430Gly)	USP30 (S399G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187376	NM_032663.5(USP30):c.1240A>G (p.Thr414Ala)	USP30 (T383A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187375	NM_032663.5(USP30):c.1189C>T (p.Pro397Ser)	USP30 (P397S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187374	NM_032663.5(USP30):c.1165C>T (p.Pro389Ser)	USP30 (P389S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187373	NM_032663.5(USP30):c.1036A>G (p.Asn346Asp)	USP30 (N315D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690435	NM_032663.5(USP30):c.963_964del (p.Cys322fs)	USP30 (C291fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2604804	NM_032663.5(USP30):c.500A>T (p.His167Leu)	USP30 (H136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602510	NM_032663.5(USP30):c.1253C>T (p.Pro418Leu)	USP30 (P387L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563107	NM_032663.5(USP30):c.1504G>A (p.Val502Ile)	USP30 (V471I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519495	NM_032663.5(USP30):c.30G>A (p.Met10Ile)	USP30, USP30-AS1 (M10I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2474387	NM_032663.5(USP30):c.980G>A (p.Arg327Gln)	USP30 (R327Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304513	NM_032663.5(USP30):c.1498G>A (p.Glu500Lys)	USP30 (E469K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297423	NM_032663.5(USP30):c.1480G>A (p.Ala494Thr)	USP30 (A463T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267086	NM_032663.5(USP30):c.308A>T (p.Tyr103Phe)	USP30 (Y72F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264130	NM_032663.5(USP30):c.620C>A (p.Thr207Lys)	USP30 (T207K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239701	NM_032663.5(USP30):c.719A>G (p.Gln240Arg)	USP30 (Q240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226272	NM_032663.5(USP30):c.1004C>T (p.Thr335Met)	USP30 (T304M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223068	NM_032663.5(USP30):c.1241C>T (p.Thr414Met)	USP30 (T383M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218098	NM_032663.5(USP30):c.341A>C (p.Gln114Pro)	USP30 (Q114P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211541	NM_032663.5(USP30):c.35C>T (p.Ala12Val)	USP30, USP30-AS1 (A12V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2210340	NM_032663.5(USP30):c.74C>A (p.Ala25Glu)	USP30, USP30-AS1 (A25E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527732	GRCh37/hg19 12q24.11(chr12:109470903-109573425)	ALKBH2, UNG +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815553	GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	UBE3B, FOXN4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 770233	NM_032663.5(USP30):c.378C>A (p.Ala126=)	USP30	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688751	GRCh37/hg19 12q24.11(chr12:109501323-109603494)x3	ACACB, ALKBH2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688170	GRCh37/hg19 12q24.11(chr12:109502471-109595474)x3	ACACB, ALKBH2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442495	GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3	ACACB, ALKBH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 145881	GRCh38/hg38 12q24.11(chr12:109081325-109154941)x3	ACACB, ALKBH2 +4 more	Copy number gain	See cases	GLikely benign
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 47