12028[HGNC] - ClinVar

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

Search results

Items: 47

	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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 2387395	NM_003299.3(HSP90B1):c.16G>T (p.Val6Leu)	HSP90B1, MIR3652 (V6L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481950	NM_003299.3(HSP90B1):c.74T>C (p.Val25Ala)	HSP90B1 (V25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607437	NM_003299.3(HSP90B1):c.177T>G (p.Asp59Glu)	HSP90B1 (D59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490566	NM_003299.3(HSP90B1):c.200G>A (p.Arg67Lys)	HSP90B1 (R67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107254	NM_003299.3(HSP90B1):c.218C>G (p.Ser73Trp)	HSP90B1 (S73W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713994	NM_003299.3(HSP90B1):c.219G>A (p.Ser73=)	HSP90B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3284908	NM_003299.3(HSP90B1):c.340A>G (p.Lys114Glu)	HSP90B1 (K114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265915	NM_003299.3(HSP90B1):c.370A>G (p.Asn124Asp)	HSP90B1 (N124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622142	NM_003299.3(HSP90B1):c.511A>G (p.Thr171Ala)	HSP90B1 (T171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339951	NM_003299.3(HSP90B1):c.643C>T (p.His215Tyr)	HSP90B1 (H215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107256	NM_003299.3(HSP90B1):c.683A>G (p.Asn228Ser)	HSP90B1 (N228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284915	NM_003299.3(HSP90B1):c.734C>T (p.Thr245Met)	HSP90B1 (T245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482456	NM_003299.3(HSP90B1):c.767C>T (p.Ser256Phe)	HSP90B1 (S256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350872	NM_003299.3(HSP90B1):c.802G>A (p.Val268Ile)	HSP90B1 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107257	NM_003299.3(HSP90B1):c.832C>A (p.Pro278Thr)	HSP90B1 (P278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332774	NM_003299.3(HSP90B1):c.937G>A (p.Glu313Lys)	HSP90B1 (E313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284914	NM_003299.3(HSP90B1):c.980A>G (p.Glu327Gly)	HSP90B1 (E327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107250	NM_003299.3(HSP90B1):c.1024A>G (p.Ile342Val)	HSP90B1 (I342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536111	NM_003299.3(HSP90B1):c.1195G>A (p.Asp399Asn)	HSP90B1 (D399N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255960	NM_003299.3(HSP90B1):c.1397G>A (p.Arg466His)	HSP90B1 (R466H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317896	NM_003299.3(HSP90B1):c.1444G>T (p.Asp482Tyr)	HSP90B1 (D482Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107251	NM_003299.3(HSP90B1):c.1513C>T (p.Arg505Cys)	HSP90B1 (R505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284913	NM_003299.3(HSP90B1):c.1614C>G (p.Ile538Met)	HSP90B1 (I538M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284910	NM_003299.3(HSP90B1):c.1823G>A (p.Arg608His)	HSP90B1 (R608H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212483	NM_003299.3(HSP90B1):c.1846G>C (p.Glu616Gln)	HSP90B1 (E616Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235011	NM_003299.3(HSP90B1):c.1879C>T (p.Leu627Phe)	HSP90B1 (L627F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284912	NM_003299.3(HSP90B1):c.2011A>G (p.Lys671Glu)	HSP90B1 (K671E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204795	NM_003299.3(HSP90B1):c.2099G>A (p.Arg700Gln)	HSP90B1 (R700Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335115	NM_003299.3(HSP90B1):c.2139T>G (p.Leu713=)	HSP90B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107252	NM_003299.3(HSP90B1):c.2146G>A (p.Val716Ile)	HSP90B1 (V716I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107253	NM_003299.3(HSP90B1):c.2171G>A (p.Arg724Gln)	HSP90B1 (R724Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107255	NM_003299.3(HSP90B1):c.2200G>T (p.Ala734Ser)	HSP90B1 (A734S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551527	NM_003299.3(HSP90B1):c.2204A>G (p.Tyr735Cys)	HSP90B1 (Y735C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284911	NM_003299.3(HSP90B1):c.2297C>G (p.Thr766Arg)	HSP90B1 (T766R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284909	NM_003299.3(HSP90B1):c.2380A>C (p.Lys794Gln)	HSP90B1 (K794Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685453	GRCh37/hg19 12q23.3(chr12:104255219-104417352)x1	GLT8D2, HSP90B1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	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 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
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 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47