HSALR1

Chr 16

HSP90AB1 associated lncRNA 1

NCBI Gene: 100289580 ENSG00000224888 OMIM: 621316

I notice that no specific information about the HSALR1 gene has been provided in your request - there's no data about protein function, associated diseases, inheritance patterns, or constraint metrics. Without this essential information, I cannot write an accurate clinical summary following your strict requirement to use only the provided data. Could you please provide the relevant clinical and functional information for HSALR1?

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical Summary— HSALR1

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ClinVar Variants

40 unique Pathogenic / Likely Pathogenic· 394 VUS of 931 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

931 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10

Likely Pathogenic30

VUS394

Likely Benign244

Benign112

Conflicting129

Pathogenic

Likely Pathogenic

394

VUS

244

Likely Benign

112

Benign

129

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	10	0	0	0	10
Likely Pathogenic	26	4	0	0	30
VUS	3	363	25	3	394
Likely Benign	2	23	72	147	244
Benign	0	15	56	41	112
Conflicting	—				129
Total	41	405	153	191	919

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

29 pathogenic / likely-pathogenic (of 29) ClinVar copy-number / structural variants overlap HSALR1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →