14251[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 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 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 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 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	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 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 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
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 2541696	NM_080626.6(BRI3BP):c.28C>G (p.Leu10Val)	BRI3BP, LOC130009168 (L10V)	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 2284371	NM_080626.6(BRI3BP):c.139C>A (p.Arg47Ser)	BRI3BP (R47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3135045	NM_080626.6(BRI3BP):c.148G>A (p.Val50Ile)	BRI3BP (V50I)	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 2517347	NM_080626.6(BRI3BP):c.173G>C (p.Ser58Thr)	BRI3BP (S58T)	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 2534606	NM_080626.6(BRI3BP):c.236G>A (p.Arg79Lys)	BRI3BP (R79K)	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 2388592	NM_080626.6(BRI3BP):c.364C>T (p.Pro122Ser)	BRI3BP (P122S)	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 2454420	NM_080626.6(BRI3BP):c.445G>A (p.Val149Ile)	BRI3BP (V149I)	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 3135048	NM_080626.6(BRI3BP):c.532G>A (p.Glu178Lys)	BRI3BP (E178K)	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 3135049	NM_080626.6(BRI3BP):c.628A>G (p.Ser210Gly)	BRI3BP (S210G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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

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Items: 41