"GeneDx"[submitter] AND "HSD3B7"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 1281644	NM_025193.4(HSD3B7):c.-7+177C>T	HSD3B7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225980	NM_025193.4(HSD3B7):c.-6-103C>G	HSD3B7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249803	NM_025193.4(HSD3B7):c.-6-102G>C	HSD3B7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 391606	NM_025193.4(HSD3B7):c.385A>G (p.Ser129Gly)	HSD3B7 (S129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268603	NM_025193.4(HSD3B7):c.532-9T>C	HSD3B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391611	NM_025193.4(HSD3B7):c.652C>T (p.Arg218Trp)	HSD3B7 (R218W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 261873	NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)	HSD3B7 (T250A)	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 261874	NM_025193.4(HSD3B7):c.804C>T (p.Tyr268=)	HSD3B7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 261869	NM_025193.4(HSD3B7):c.1040T>C (p.Leu347Pro)	HSD3B7 (L347P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 261870	NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=)	HSD3B7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign