"GeneDx"[submitter] AND "HSD17B10"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 60310	GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3	HSD17B10, HUWE1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1804315	NM_001031745.5(RIBC1):c.1092T>A (p.Asn364Lys)	HSD17B10, RIBC1 (N364K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303697	NM_004493.3(HSD17B10):c.772C>T (p.Arg258Cys)	HSD17B10 (R249C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431021	NM_004493.3(HSD17B10):c.731C>A (p.Pro244Gln)	HSD17B10 (P235Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254132	NM_004493.3(HSD17B10):c.709G>A (p.Val237Ile)	HSD17B10 (V228I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280839	NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu)	HSD17B10 (K212E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 421735	NM_004493.3(HSD17B10):c.595+17_595+20del	HSD17B10	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 2499695	NM_004493.3(HSD17B10):c.545T>C (p.Ile182Thr)	HSD17B10 (I182T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954758	NM_004493.3(HSD17B10):c.488T>C (p.Val163Ala)	HSD17B10 (V163A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420778	NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)	HSD17B10 (R147C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1314329	NM_004493.3(HSD17B10):c.385A>G (p.Ile129Val)	HSD17B10 (I129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311532	NM_004493.3(HSD17B10):c.333G>C (p.Leu111Phe)	HSD17B10 (L111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442658	NM_004493.3(HSD17B10):c.299C>T (p.Thr100Met)	HSD17B10 (T100M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432904	NM_004493.3(HSD17B10):c.286G>A (p.Val96Met)	HSD17B10 (V96M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 514800	NM_004493.3(HSD17B10):c.192+19C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2444834	NM_004493.3(HSD17B10):c.124C>G (p.Leu42Val)	HSD17B10 (L42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502062	NM_004493.3(HSD17B10):c.58T>G (p.Ser20Ala)	HSD17B10 (S20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303957	NM_004493.3(HSD17B10):c.37G>A (p.Ala13Thr)	HSD17B10 (A13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206800	NM_004493.3(HSD17B10):c.28-140C>T	HSD17B10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311115	NM_004493.3(HSD17B10):c.17G>A (p.Arg6Gln)	HSD17B10 (R6Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276909	NC_000023.11:g.53434412G>C	HSD17B10	Single nucleotide variant	not provided	GBenign
Select item 1326414	NC_000023.11:g.53434487G>T	HSD17B10	Single nucleotide variant	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ALAS2, AMER1 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253410	GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3	ZXDB, PHF8 +37 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic

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Items: 42