HSD11B1-AS1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 2483231	NM_015714.4(G0S2):c.16G>A (p.Glu6Lys)	G0S2, HSD11B1-AS1 (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280314	NM_015714.4(G0S2):c.45G>A (p.Met15Ile)	G0S2, HSD11B1-AS1 (M15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097717	NM_015714.4(G0S2):c.131A>T (p.Glu44Val)	G0S2, HSD11B1-AS1 (E44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469708	NM_015714.4(G0S2):c.157G>A (p.Ala53Thr)	G0S2, HSD11B1-AS1 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364352	NM_015714.4(G0S2):c.174C>A (p.Asp58Glu)	G0S2, HSD11B1-AS1 (D58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097719	NM_015714.4(G0S2):c.274G>A (p.Gly92Ser)	G0S2, HSD11B1-AS1 (G92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343669	NM_015714.4(G0S2):c.277G>A (p.Gly93Ser)	G0S2, HSD11B1-AS1 (G93S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483854	NM_005525.4(HSD11B1):c.29C>T (p.Pro10Leu)	HSD11B1, HSD11B1-AS1 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743453	NM_005525.4(HSD11B1):c.117C>T (p.Val39=)	HSD11B1, HSD11B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048552	NM_005525.4(HSD11B1):c.165G>A (p.Ala55=)	HSD11B1, HSD11B1-AS1	Single nucleotide variant (synonymous variant)	HSD11B1-related disorder	GBenign
Select item 3107069	NM_005525.4(HSD11B1):c.262T>C (p.Tyr88His)	HSD11B1, HSD11B1-AS1 (Y88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107070	NM_005525.4(HSD11B1):c.289A>T (p.Thr97Ser)	HSD11B1, HSD11B1-AS1 (T97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553534	NM_005525.4(HSD11B1):c.320G>C (p.Gly107Ala)	HSD11B1, HSD11B1-AS1 (G107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375731	NM_005525.4(HSD11B1):c.331+53dup	HSD11B1, HSD11B1-AS1	Duplication (intron variant)	Cortisone reductase deficiency 2	GBenign
Select item 375729	NM_005525.4(HSD11B1):c.332-29T>G	HSD11B1, HSD11B1-AS1	Single nucleotide variant (intron variant)	Cortisone reductase deficiency 2 +1 more	GBenign
Select item 8911	NM_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]	HSD11B1, HSD11B1-AS1	Single nucleotide variant (intron variant)	Cortisone reductase deficiency 2	GUncertain significance
Select item 3284840	NM_005525.4(HSD11B1):c.361A>G (p.Ile121Val)	HSD11B1, HSD11B1-AS1 (I121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107071	NM_005525.4(HSD11B1):c.407T>A (p.Val136Glu)	HSD11B1, HSD11B1-AS1 (V136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31588	NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys)	HSD11B1, HSD11B1-AS1 (R137C)	Single nucleotide variant (missense variant)	Cortisone reductase deficiency 2	GPathogenic
Select item 2305550	NM_005525.4(HSD11B1):c.482G>A (p.Ser161Asn)	HSD11B1, HSD11B1-AS1 (S161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384299	NM_005525.4(HSD11B1):c.502G>A (p.Val168Ile)	HSD11B1, HSD11B1-AS1 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678195	NM_005525.4(HSD11B1):c.517+8G>A	HSD11B1, HSD11B1-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 787221	NM_005525.4(HSD11B1):c.518-9G>A	HSD11B1, HSD11B1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31589	NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn)	HSD11B1, HSD11B1-AS1 (K187N)	Single nucleotide variant (missense variant)	Cortisone reductase deficiency 2	GPathogenic
Select item 2608489	NM_005525.4(HSD11B1):c.647G>C (p.Gly216Ala)	HSD11B1, HSD11B1-AS1 (G216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627999	NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs)	HSD11B1, HSD11B1-AS1 (V227fs)	Insertion (frameshift variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2295063	NM_005525.4(HSD11B1):c.707C>T (p.Ala236Val)	HSD11B1, HSD11B1-AS1 (A236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435467	NM_005525.4(HSD11B1):c.744G>C (p.Gly248=)	HSD11B1, HSD11B1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3107072	NM_005525.4(HSD11B1):c.845C>T (p.Thr282Met)	HSD11B1, HSD11B1-AS1 (T282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 35