HSP90AB1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 778005	NM_007355.4(HSP90AB1):c.117C>T (p.Phe39=)	HSP90AB1, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2607163	NM_007355.4(HSP90AB1):c.226A>C (p.Ile76Leu)	HSP90AB1, POLR1C (I76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353662	NM_007355.4(HSP90AB1):c.244C>T (p.Arg82Cys)	HSP90AB1, POLR1C (R82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224272	NM_007355.4(HSP90AB1):c.295A>G (p.Ile99Val)	HSP90AB1, POLR1C (I99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559438	NM_007355.4(HSP90AB1):c.502C>T (p.Arg168Cys)	HSP90AB1, POLR1C (R120C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107247	NM_007355.4(HSP90AB1):c.662G>A (p.Arg221Gln)	HSP90AB1, POLR1C (R221Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611870	NM_007355.4(HSP90AB1):c.688G>A (p.Ala230Thr)	HSP90AB1, POLR1C (A220T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107248	NM_007355.4(HSP90AB1):c.737A>G (p.Glu246Gly)	HSP90AB1, POLR1C (E198G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107249	NM_007355.4(HSP90AB1):c.784G>T (p.Gly262Cys)	HSP90AB1, POLR1C (G214C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711675	NM_007355.4(HSP90AB1):c.846A>G (p.Leu282=)	HSP90AB1, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2541534	NM_007355.4(HSP90AB1):c.964T>G (p.Ser322Ala)	HSP90AB1, POLR1C (S312A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107240	NM_007355.4(HSP90AB1):c.1336A>G (p.Thr446Ala)	HSP90AB1, POLR1C (T398A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373787	NM_007355.4(HSP90AB1):c.1345C>T (p.Arg449Cys)	HSP90AB1, POLR1C (R449C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593354	NM_007355.4(HSP90AB1):c.1372C>T (p.His458Tyr)	HSP90AB1, POLR1C (H458Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391746	NM_007355.4(HSP90AB1):c.1390G>A (p.Asp464Asn)	HSP90AB1, POLR1C (D454N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107242	NM_007355.4(HSP90AB1):c.1451A>G (p.Tyr484Cys)	HSP90AB1, POLR1C (Y474C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107243	NM_007355.4(HSP90AB1):c.1453T>C (p.Tyr485His)	HSP90AB1, POLR1C (Y475H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550574	NM_007355.4(HSP90AB1):c.1517G>A (p.Arg506Gln)	HSP90AB1, POLR1C (R496Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107244	NM_007355.4(HSP90AB1):c.1541C>T (p.Thr514Ile)	HSP90AB1, POLR1C (T466I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107245	NM_007355.4(HSP90AB1):c.1647G>C (p.Glu549Asp)	HSP90AB1, POLR1C (E501D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786089	NM_007355.4(HSP90AB1):c.1653G>A (p.Lys551=)	HSP90AB1, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2556503	NM_007355.4(HSP90AB1):c.1655A>T (p.Lys552Met)	HSP90AB1, POLR1C (K552M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721181	NM_007355.4(HSP90AB1):c.1839C>T (p.Asp613=)	HSP90AB1, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3107246	NM_007355.4(HSP90AB1):c.1915C>T (p.Arg639Trp)	HSP90AB1, POLR1C (R639W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656613	NM_007355.4(HSP90AB1):c.1962G>A (p.Leu654=)	HSP90AB1, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2546486	NM_007355.4(HSP90AB1):c.1984G>A (p.Ala662Thr)	HSP90AB1, POLR1C (A614T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325108	NM_007355.4(HSP90AB1):c.2008C>G (p.Leu670Val)	HSP90AB1, POLR1C (L622V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778243	NM_007355.4(HSP90AB1):c.2019C>G (p.Pro673=)	HSP90AB1, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 39