HSD11B1L[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 3107078	NM_198706.3(HSD11B1L):c.43G>A (p.Ala15Thr)	HSD11B1L (A15T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348180	NM_198706.3(HSD11B1L):c.60C>A (p.Asp20Glu)	HSD11B1L (D20E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330540	NM_198706.3(HSD11B1L):c.107G>A (p.Gly36Glu)	HSD11B1L (G36E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107073	NM_198706.3(HSD11B1L):c.151C>A (p.Arg51Ser)	HSD11B1L (R98S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107074	NM_198706.3(HSD11B1L):c.221G>T (p.Arg74Leu)	HSD11B1L (R74L +1 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
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 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 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 3284841	NM_198706.3(HSD11B1L):c.427G>C (p.Val143Leu)	HSD11B1L (V62L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616368	NM_198706.3(HSD11B1L):c.490T>C (p.Ser164Pro)	HSD11B1L (S211P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2302776	NM_198706.3(HSD11B1L):c.848C>T (p.Ala283Val)	HSD11B1L (A283V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107080	NM_198706.3(HSD11B1L):c.*1G>T	HSD11B1L (E99D +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310767	NM_198706.3(HSD11B1L):c.*32G>C	HSD11B1L (A110P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229656	NM_198706.3(HSD11B1L):c.*104C>G	HSD11B1L (P187A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2337546	NM_198706.3(HSD11B1L):c.*128A>G	HSD11B1L (K276E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399405	NM_198706.3(HSD11B1L):c.*131A>C	HSD11B1L (S277R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2408150	NM_198706.3(HSD11B1L):c.*161G>A	HSD11B1L (E206K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525663	NM_198706.3(HSD11B1L):c.*194C>A	HSD11B1L (R164S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2210898	NM_198706.3(HSD11B1L):c.*213G>C	HSD11B1L (R170P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 688736	GRCh37/hg19 19p13.3(chr19:5513058-5776260)x3	CATSPERD, HSD11B1L +6 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253731	GRCh37/hg19 19p13.3(chr19:5680833-5739465)x3	MICOS13, LONP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 221539	GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3	HSD11B1L, LONP1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35