HSD17B2[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	ARLNC1, ATMIN +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 153494	GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3	CDH13, HSD17B2 +27 more	Copy number gain	See cases	GUncertain significance
Select item 60059	GRCh38/hg38 16q23.3(chr16:82000870-82705128)x3	CDH13, HSD17B2 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2527055	NM_002153.3(HSD17B2):c.108C>A (p.Ser36Arg)	HSD17B2 (S36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2283818	NM_002153.3(HSD17B2):c.115G>A (p.Val39Ile)	HSD17B2 (V39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359123	NM_002153.3(HSD17B2):c.168G>C (p.Trp56Cys)	HSD17B2 (W56C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 153263	GRCh38/hg38 16q23.3(chr16:82066303-83181227)x3	LOC101928446, CDH13 +23 more	Copy number gain	See cases	GLikely benign
Select item 2525527	NM_002153.3(HSD17B2):c.276C>T (p.Cys92=)	HSD17B2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2373843	NM_002153.3(HSD17B2):c.298A>C (p.Lys100Gln)	HSD17B2 (K100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455550	NM_002153.3(HSD17B2):c.323C>G (p.Thr108Arg)	HSD17B2 (T108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357232	NM_002153.3(HSD17B2):c.323C>T (p.Thr108Met)	HSD17B2 (T108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369767	NM_002153.3(HSD17B2):c.334G>A (p.Gly112Arg)	HSD17B2 (G112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787128	NM_002153.3(HSD17B2):c.361G>A (p.Ala121Thr)	HSD17B2 (A121T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2294668	NM_002153.3(HSD17B2):c.389C>T (p.Pro130Leu)	HSD17B2 (P130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713204	NM_002153.3(HSD17B2):c.390G>A (p.Pro130=)	HSD17B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219965	NM_002153.3(HSD17B2):c.392G>A (p.Arg131His)	HSD17B2 (R131H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244579	NM_002153.3(HSD17B2):c.453G>C (p.Lys151Asn)	HSD17B2 (K151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379171	NM_002153.3(HSD17B2):c.463A>G (p.Met155Val)	HSD17B2 (M155V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406798	NM_002153.3(HSD17B2):c.465G>A (p.Met155Ile)	HSD17B2 (M155I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234850	NM_002153.3(HSD17B2):c.521C>T (p.Pro174Leu)	HSD17B2, LOC126862416 (P174L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331650	NM_002153.3(HSD17B2):c.523A>T (p.Thr175Ser)	HSD17B2, LOC126862416 (T175S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 777046	NM_002153.3(HSD17B2):c.534G>A (p.Glu178=)	HSD17B2, LOC126862416	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2303782	NM_002153.3(HSD17B2):c.535C>T (p.Leu179Phe)	HSD17B2, LOC126862416 (L179F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454200	NM_002153.3(HSD17B2):c.612G>C (p.Leu204Phe)	HSD17B2, LOC126862416 (L204F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787563	NM_002153.3(HSD17B2):c.676A>G (p.Met226Val)	HSD17B2 (M226V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570166	NM_002153.3(HSD17B2):c.688G>A (p.Ala230Thr)	HSD17B2 (A230T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781228	NM_002153.3(HSD17B2):c.719C>G (p.Thr240Ser)	HSD17B2 (T240S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2593786	NM_002153.3(HSD17B2):c.734T>A (p.Val245Asp)	HSD17B2 (V245D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604776	NM_002153.3(HSD17B2):c.790G>T (p.Gly264Cys)	HSD17B2 (G264C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402958	NM_002153.3(HSD17B2):c.796C>G (p.Leu266Val)	HSD17B2 (L266V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592189	NM_002153.3(HSD17B2):c.865G>T (p.Ala289Ser)	HSD17B2 (A289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311759	NM_002153.3(HSD17B2):c.886G>A (p.Gly296Ser)	HSD17B2 (G296S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601523	NM_002153.3(HSD17B2):c.891G>C (p.Gln297His)	HSD17B2 (Q297H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286642	NM_002153.3(HSD17B2):c.893A>G (p.Asp298Gly)	HSD17B2 (D298G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713959	NM_002153.3(HSD17B2):c.925T>C (p.Leu309=)	HSD17B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770439	NM_002153.3(HSD17B2):c.936G>A (p.Ser312=)	HSD17B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614031	NM_002153.3(HSD17B2):c.992C>A (p.Ala331Glu)	HSD17B2 (A331E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729817	NM_002153.3(HSD17B2):c.992C>T (p.Ala331Val)	HSD17B2 (A331V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617110	NM_002153.3(HSD17B2):c.1030G>A (p.Ala344Thr)	HSD17B2 (A344T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685580	GRCh37/hg19 16q23.3(chr16:82058235-82171719)x1	HSD17B2	Copy number loss	not provided	GUncertain significance
Select item 1809217	GRCh37/hg19 16q23.3(chr16:82099909-83214832)x3	CDH13, HSD17B2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 979480	GRCh37/hg19 16q23.3(chr16:82019507-82180338)x1	HSD17B2, SDR42E1	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815854	GRCh37/hg19 16q23.3(chr16:81983037-83067299)x3	SDR42E1, HSD17B2 +4 more	Copy number gain	not provided	GLikely benign
Select item 815853	GRCh37/hg19 16q23.3(chr16:81982623-82831574)x3	SDR42E1, PLCG2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	ATMIN, BCO1 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 687762	GRCh37/hg19 16q23.3(chr16:82007552-82514962)x3	HSD17B2, MPHOSPH6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 624509	GRCh37/hg19 16q23.3(chr16:82021894-82166460)x1	HSD17B2, SDR42E1	Copy number loss	not provided	GLikely benign
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 441621	GRCh37/hg19 16q23.3(chr16:81981647-82836348)x3	CDH13, HSD17B2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394737	GRCh37/hg19 16q23.3(chr16:82029122-82128834)x1	HSD17B2, SDR42E1	Copy number loss	See cases	GUncertain significance
Select item 268189	GRCh37/hg19 16q23.3(chr16:81838176-82450270)x3	HSD17B2, MPHOSPH6 +2 more	Copy number gain	not provided	GLikely benign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 90