ClinVar for MedGen (Select 781653) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339520	NM_004493.3(HSD17B10):c.59C>T (p.Ser20Leu)	HSD17B10 (S20L)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 3235000	NM_004493.3(HSD17B10):c.11C>G (p.Ala4Gly)	HSD17B10 (A4G)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 2689225	NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)	HSD17B10 (T108I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2664886	NM_004493.3(HSD17B10):c.62G>T (p.Gly21Val)	HSD17B10 (G21V)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 2502293	NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)	HSD17B10 (L227F +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 1878522	NM_004493.3(HSD17B10):c.113T>C (p.Val38Ala)	HSD17B10 (V38A)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 1690322	NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln)	HSD17B10 (R116Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1327475	NM_004493.3(HSD17B10):c.660A>C (p.Gln220His)	HSD17B10 (Q211H +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 1028768	NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly)	HSD17B10 (R29G)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 1028767	NM_004493.3(HSD17B10):c.14G>A (p.Cys5Tyr)	HSD17B10 (C5Y)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 996911	NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu)	HSD17B10 (G55E)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 973446	NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met)	HSD17B10 (I251M +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 813313	NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg)	HSD17B10 (G173R)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 587599	NM_004493.3(HSD17B10):c.253G>A (p.Val85Met)	HSD17B10 (V85M)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 496894	NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln)	HSD17B10 (R217Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 435470	NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile)	HSD17B10 (V87I)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease +3 more	GConflicting classifications of pathogenicity
Select item 420778	NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)	HSD17B10 (R147C)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
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 254239	NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr)	HSD17B10 (P198T)	Single nucleotide variant (missense variant +1 more)	HSD10 mitochondrial disease	GLikely pathogenic
Select item 203377	NM_004493.3(HSD17B10):c.218C>G (p.Thr73Arg)	HSD17B10 (T73R)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GUncertain significance
Select item 144033	NM_004493.3(HSD17B10):c.257A>G (p.Asp86Gly)	HSD17B10 (D86G)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GPathogenic
Select item 95101	NM_004493.3(HSD17B10):c.194T>C (p.Val65Ala)	HSD17B10 (V65A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11446	NM_004493.3(HSD17B10):c.745G>C (p.Glu249Gln)	HSD17B10 (E249Q +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GPathogenic
Select item 11445	NM_004493.3(HSD17B10):c.574C>A (p.Arg192=)	HSD17B10	Single nucleotide variant (synonymous variant +1 more)	HSD10 mitochondrial disease	GPathogenic
Select item 11444	NM_004493.3(HSD17B10):c.740A>G (p.Asn247Ser)	HSD17B10 (N247S +1 more)	Single nucleotide variant (missense variant)	HSD10 mitochondrial disease	GPathogenic
Select item 11443	NM_004493.3(HSD17B10):c.364C>G (p.Leu122Val)	HSD17B10 (L122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 11442	NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys)	HSD17B10 (R130C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 27