HSD17B6[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2204832	NM_003725.4(HSD17B6):c.17C>T (p.Ala6Val)	HSD17B6 (A6V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 778447	NM_003725.4(HSD17B6):c.24C>T (p.Phe8=)	HSD17B6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107146	NM_003725.4(HSD17B6):c.62G>A (p.Arg21Lys)	HSD17B6 (R21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107139	NM_003725.4(HSD17B6):c.104C>A (p.Thr35Lys)	HSD17B6 (T35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107140	NM_003725.4(HSD17B6):c.106G>A (p.Gly36Ser)	HSD17B6 (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107141	NM_003725.4(HSD17B6):c.116C>T (p.Ser39Leu)	HSD17B6 (S39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107142	NM_003725.4(HSD17B6):c.142C>G (p.Gln48Glu)	HSD17B6 (Q48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543097	NM_003725.4(HSD17B6):c.170T>C (p.Leu57Pro)	HSD17B6 (L57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107143	NM_003725.4(HSD17B6):c.172G>A (p.Ala58Thr)	HSD17B6 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107144	NM_003725.4(HSD17B6):c.185C>T (p.Thr62Met)	HSD17B6 (T62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528476	NM_003725.4(HSD17B6):c.192G>C (p.Lys64Asn)	HSD17B6 (K64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219607	NM_003725.4(HSD17B6):c.199G>A (p.Glu67Lys)	HSD17B6 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284865	NM_003725.4(HSD17B6):c.218C>T (p.Thr73Met)	HSD17B6 (T73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716329	NM_003725.4(HSD17B6):c.237G>A (p.Thr79=)	HSD17B6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2355821	NM_003725.4(HSD17B6):c.322G>A (p.Gly108Arg)	HSD17B6 (G108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107145	NM_003725.4(HSD17B6):c.325C>G (p.Leu109Val)	HSD17B6 (L109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529795	NM_003725.4(HSD17B6):c.452T>C (p.Leu151Ser)	HSD17B6 (L151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372889	NM_003725.4(HSD17B6):c.575G>A (p.Arg192His)	HSD17B6 (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249993	NM_003725.4(HSD17B6):c.646A>G (p.Met216Val)	HSD17B6 (M216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284866	NM_003725.4(HSD17B6):c.665G>A (p.Arg222Gln)	HSD17B6 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360150	NM_003725.4(HSD17B6):c.689C>A (p.Ala230Asp)	HSD17B6 (A230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107148	NM_003725.4(HSD17B6):c.692C>G (p.Pro231Arg)	HSD17B6 (P231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284864	NM_003725.4(HSD17B6):c.698A>G (p.His233Arg)	HSD17B6 (H233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210596	NM_003725.4(HSD17B6):c.745A>G (p.Ile249Val)	HSD17B6 (I249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290524	NM_003725.4(HSD17B6):c.830C>T (p.Pro277Leu)	HSD17B6 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268569	NM_003725.4(HSD17B6):c.902T>A (p.Leu301Gln)	HSD17B6 (L301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 563908	GRCh37/hg19 12q13.3(chr12:57168428-57314014)x1	HSD17B6	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 35