ClinVar for Gene (Select 140707) - ClinVar

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

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261761	NM_080626.6(BRI3BP):c.140G>A (p.Arg47His)	BRI3BP (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261760	NM_080626.6(BRI3BP):c.4G>C (p.Gly2Arg)	BRI3BP, LOC130009167 (G2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135050	NM_080626.6(BRI3BP):c.631G>A (p.Gly211Ser)	BRI3BP (G211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135049	NM_080626.6(BRI3BP):c.628A>G (p.Ser210Gly)	BRI3BP (S210G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135048	NM_080626.6(BRI3BP):c.532G>A (p.Glu178Lys)	BRI3BP (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135047	NM_080626.6(BRI3BP):c.433T>C (p.Phe145Leu)	BRI3BP (F145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135045	NM_080626.6(BRI3BP):c.148G>A (p.Val50Ile)	BRI3BP (V50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135044	NM_080626.6(BRI3BP):c.136T>C (p.Tyr46His)	BRI3BP (Y46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2541696	NM_080626.6(BRI3BP):c.28C>G (p.Leu10Val)	BRI3BP, LOC130009168 (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534606	NM_080626.6(BRI3BP):c.236G>A (p.Arg79Lys)	BRI3BP (R79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517347	NM_080626.6(BRI3BP):c.173G>C (p.Ser58Thr)	BRI3BP (S58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496305	NM_080626.6(BRI3BP):c.523C>A (p.His175Asn)	BRI3BP (H175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494644	NM_080626.6(BRI3BP):c.589A>G (p.Met197Val)	BRI3BP (M197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454420	NM_080626.6(BRI3BP):c.445G>A (p.Val149Ile)	BRI3BP (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402548	NM_080626.6(BRI3BP):c.194A>G (p.Asn65Ser)	BRI3BP, LOC130009169 (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388592	NM_080626.6(BRI3BP):c.364C>T (p.Pro122Ser)	BRI3BP (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372619	NM_080626.6(BRI3BP):c.262G>A (p.Val88Met)	BRI3BP (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284371	NM_080626.6(BRI3BP):c.139C>A (p.Arg47Ser)	BRI3BP (R47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224377	NM_080626.6(BRI3BP):c.159C>G (p.Phe53Leu)	BRI3BP (F53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809251	GRCh37/hg19 12q24.31-24.32(chr12:125346689-126135525)x3	AACS, BRI3BP +4 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	AACS, ATP6V0A2 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 687704	GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1	AACS, ABCB9 +52 more	Copy number loss	not provided	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563973	GRCh37/hg19 12q24.31-24.32(chr12:125302399-126579875)x3	AACS, UBC +4 more	Copy number gain	not provided	GUncertain significance
Select item 443743	GRCh37/hg19 12q24.31-24.32(chr12:125482629-126284296)x3	AACS, BRI3BP +1 more	Copy number gain	See cases	GUncertain significance
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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

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: 41