"GeneDx"[submitter] AND "LOC126862549"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58695	GRCh37/hg19 17q12(chr17:35958761-36224189)x3	DDX52, HNF1B +7 more	Copy number gain	See cases	GPathogenic
Select item 678417	NM_000458.4(HNF1B):c.809+109A>G	HNF1B, LOC126862549	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1198571	NM_000458.4(HNF1B):c.809+63T>C	HNF1B, LOC126862549	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280497	NM_000458.4(HNF1B):c.809+1G>T	HNF1B, LOC126862549	Single nucleotide variant (splice donor variant)	Renal cysts and diabetes syndrome +1 more	GPathogenic
Select item 635650	NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)	HNF1B, LOC126862549 (R261G +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 418253	NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)	LOC126862549, HNF1B (R252P +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GLikely pathogenic
Select item 514068	NM_000458.4(HNF1B):c.723G>A (p.Ala241=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +5 more	GBenign/Likely benign
Select item 635664	NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)	HNF1B, LOC126862549 (R235Q +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 668656	NM_000458.4(HNF1B):c.699C>T (p.Arg233=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1320511	NM_000458.4(HNF1B):c.697C>T (p.Arg233Cys)	HNF1B, LOC126862549 (R207C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317001	NM_000458.4(HNF1B):c.681CAA[1] (p.Asn228del)	HNF1B, LOC126862549 (N202del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 256209	NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)	HNF1B, LOC126862549 (N228K +1 more)	Single nucleotide variant (missense variant)	Renal cysts and diabetes syndrome +3 more	GBenign/Likely benign
Select item 511470	NM_000458.4(HNF1B):c.657C>T (p.Ser219=)	HNF1B, LOC126862549	Single nucleotide variant (synonymous variant)	Renal cysts and diabetes syndrome +5 more	GBenign/Likely benign
Select item 546210	NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)	LOC126862549, HNF1B (S198R)	Single nucleotide variant (missense variant +1 more)	Renal cysts and diabetes syndrome +4 more	GUncertain significance/Uncertain risk allele
Select item 1316139	NM_000458.4(HNF1B):c.584A>G (p.Asp195Gly)	HNF1B, LOC126862549 (D195G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 676875	NM_000458.4(HNF1B):c.545-73TCTG[7]	HNF1B, LOC126862549	Microsatellite (intron variant)	not provided	GBenign