Related gene-specific medical variations for Gene (Select 374875) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107079	NM_198706.3(HSD11B1L):c.505C>T (p.Arg169Cys)	HSD11B1L, LOC130063264 (R169C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107076	NM_198706.3(HSD11B1L):c.388G>A (p.Ala130Thr)	HSD11B1L, LOC130063262 (A130T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107075	NM_198706.3(HSD11B1L):c.365G>A (p.Gly122Asp)	HSD11B1L, LOC130063262 (G35D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528475	NM_198706.3(HSD11B1L):c.515C>T (p.Thr172Met)	HSD11B1L, LOC130063264 (T219M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489270	NM_198706.3(HSD11B1L):c.371G>A (p.Arg124Gln)	HSD11B1L, LOC130063262 (R124Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306499	NM_198706.3(HSD11B1L):c.326A>G (p.Asp109Gly)	HSD11B1L, LOC130063262 (D22G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar