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Variants search result for Homo sapiens
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18 records found for search term Hsdl2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15118498CV779373single nucleotide variantNM_032303.5(HSDL2):c.395+8T>Cnot provided [RCV000962391]benign9112409029112409029Humanname
598255796CV3968180single nucleotide variantNM_032303.5(HSDL2):c.59G>A (p.Arg20His)not specified [RCV005346635]uncertain significance9112404036112404036Humanname
15190041CV723249single nucleotide variantNM_032303.5(HSDL2):c.894A>G (p.Lys298=)not provided [RCV000887991]benign9112454041112454041Humanname
15172080CV700735single nucleotide variantNM_032303.5(HSDL2):c.272A>T (p.Lys91Ile)not provided [RCV000949951]benign9112405714112405714Humanname
156063645CV2331026single nucleotide variantNM_032303.5(HSDL2):c.665A>G (p.Asp222Gly)not specified [RCV004188064]uncertain significance9112438497112438497Humanname
329357617CV2427782single nucleotide variantNM_032303.5(HSDL2):c.916C>T (p.Arg306Cys)not specified [RCV004252561]uncertain significance9112454063112454063Humanname
401724970CV2697230single nucleotide variantNM_032303.5(HSDL2):c.812A>C (p.Asp271Ala)not specified [RCV004304001]uncertain significance9112441717112441717Humanname
405803627CV3274238single nucleotide variantNM_032303.5(HSDL2):c.461C>G (p.Pro154Arg)not specified [RCV004404545]uncertain significance9112416906112416906Humanname
405803628CV3274239single nucleotide variantNM_032303.5(HSDL2):c.743T>C (p.Ile248Thr)not specified [RCV004404546]uncertain significance9112438575112438575Humanname
405803630CV3274240single nucleotide variantNM_032303.5(HSDL2):c.775G>A (p.Val259Ile)not specified [RCV004404547]likely benign9112438607112438607Humanname
597774154CV3689717single nucleotide variantNM_032303.5(HSDL2):c.383G>A (p.Gly128Asp)not specified [RCV004929041]uncertain significance9112409009112409009Humanname
598255800CV3968181single nucleotide variantNM_032303.5(HSDL2):c.587G>T (p.Trp196Leu)not specified [RCV005346636]uncertain significance9112418947112418947Humanname
598255811CV3968183single nucleotide variantNM_032303.5(HSDL2):c.298A>G (p.Asn100Asp)not specified [RCV005346638]uncertain significance9112408924112408924Humanname
156065414CV2287352single nucleotide variantNM_032303.5(HSDL2):c.1134A>C (p.Lys378Asn)not specified [RCV004146971]uncertain significance9112459567112459567Humanname
156278812CV2348270single nucleotide variantNM_032303.5(HSDL2):c.1053C>A (p.Ser351Arg)not specified [RCV004191306]uncertain significance9112459486112459486Humanname
156019720CV2366997single nucleotide variantNM_032303.5(HSDL2):c.1141T>G (p.Ser381Ala)not specified [RCV004213401]uncertain significance9112459574112459574Humanname
597774159CV3689718single nucleotide variantNM_032303.5(HSDL2):c.1031C>T (p.Thr344Met)not specified [RCV004929042]uncertain significance9112459464112459464Humanname
598255806CV3968182single nucleotide variantNM_032303.5(HSDL2):c.1100T>G (p.Val367Gly)not specified [RCV005346637]uncertain significance9112459533112459533Humanname