"Baylor Genetics"[submitter] AND "HNF1B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582407	NM_000458.4(HNF1B):c.515del (p.Tyr172fs)	HNF1B (Y172fs)	Deletion (frameshift variant)	Renal cysts and diabetes syndrome	GPathogenic
Select item 2442178	NM_000458.4(HNF1B):c.395A>G (p.His132Arg)	HNF1B (H132R)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome	GLikely pathogenic
Select item 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625689	GRCh37/hg19 17q12(chr17:34819191-36194230)	AATF, ACACA +13 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 625680	GRCh37/hg19 17q12(chr17:34842059-36214026)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625651	GRCh37/hg19 17q12(chr17:34819191-36104803)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625612	GRCh37/hg19 17q12(chr17:34848678-36194230)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 209211	NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del	CCL4L1, CCL4L2 +26 more	Deletion	Chromosome 17q12 deletion syndrome	GPathogenic

ClinVar