HSD11B1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 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	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 2483854	NM_005525.4(HSD11B1):c.29C>T (p.Pro10Leu)	HSD11B1, HSD11B1-AS1 (P10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 condition	GBenign
Select item 2553534	NM_005525.4(HSD11B1):c.320G>C (p.Gly107Ala)	HSD11B1, HSD11B1-AS1 (G107A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	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 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)	Inborn genetic diseases	GUncertain significance
Select item 2384299	NM_005525.4(HSD11B1):c.502G>A (p.Val168Ile)	HSD11B1-AS1, HSD11B1 (V168I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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-AS1, HSD11B1 (A236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435467	NM_005525.4(HSD11B1):c.744G>C (p.Gly248=)	HSD11B1, HSD11B1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979929	GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3	G0S2, TRAF3IP3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395067	GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1	C1orf74, CAMK1G +9 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 37