"XDH-related condition"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1563275	NM_000379.4(XDH):c.3920G>A (p.Arg1307His)	XDH (R1307H)	Single nucleotide variant (missense variant)	XDH-related condition +1 more	GConflicting classifications of pathogenicity
Select item 898500	NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp)	XDH (R1296W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 335757	NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg)	XDH (K1292R)	Single nucleotide variant (missense variant)	XDH-related condition +2 more	GLikely benign
Select item 765186	NM_000379.4(XDH):c.3789G>A (p.Pro1263=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 3044587	NM_000379.4(XDH):c.3775-6G>T	XDH	Single nucleotide variant (intron variant)	XDH-related condition	GLikely benign
Select item 2041833	NM_000379.4(XDH):c.3764A>T (p.Tyr1255Phe)	XDH (Y1255F)	Single nucleotide variant (missense variant)	XDH-related condition +1 more	GLikely benign
Select item 3049370	NM_000379.4(XDH):c.3539T>C (p.Val1180Ala)	XDH (V1180A)	Single nucleotide variant (missense variant)	XDH-related condition	GUncertain significance
Select item 790908	NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)	XDH (I1179T)	Single nucleotide variant (missense variant)	Xanthinuria type II +3 more	GConflicting classifications of pathogenicity
Select item 335762	NM_000379.4(XDH):c.3271G>C (p.Val1091Leu)	XDH (V1091L)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 335763	NM_000379.4(XDH):c.3249C>T (p.Ser1083=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 711191	NM_000379.4(XDH):c.3018T>C (p.Phe1006=)	XDH	Single nucleotide variant (synonymous variant)	XDH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 335769	NM_000379.4(XDH):c.2851G>A (p.Gly951Arg)	XDH (G951R)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 1165590	NM_000379.4(XDH):c.2794G>A (p.Ala932Thr)	XDH (A932T)	Single nucleotide variant (missense variant)	XDH-related condition +1 more	GBenign
Select item 335770	NM_000379.4(XDH):c.2634T>C (p.Ile878=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +3 more	GConflicting classifications of pathogenicity
Select item 745942	NM_000379.4(XDH):c.2460C>T (p.Thr820=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +2 more	GLikely benign
Select item 650290	NM_000379.4(XDH):c.2362A>T (p.Ile788Phe)	XDH (I788F)	Single nucleotide variant (missense variant)	XDH-related condition +2 more	GUncertain significance
Select item 3034935	NM_000379.4(XDH):c.2022C>T (p.Asp674=)	XDH	Single nucleotide variant (synonymous variant)	XDH-related condition	GLikely benign
Select item 790816	NM_000379.4(XDH):c.2013G>A (p.Val671=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign
Select item 335776	NM_000379.4(XDH):c.1990G>A (p.Val664Ile)	XDH (V664I)	Single nucleotide variant (missense variant)	XDH-related condition +2 more	GBenign
Select item 1608824	NM_000379.4(XDH):c.1911C>T (p.Ser637=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +2 more	GBenign/Likely benign
Select item 898635	NM_000379.4(XDH):c.1856+10A>G	XDH	Single nucleotide variant (intron variant)	Hereditary xanthinuria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1553948	NM_000379.4(XDH):c.1773C>T (p.Ala591=)	XDH	Single nucleotide variant (synonymous variant)	XDH-related condition +2 more	GLikely benign
Select item 335782	NM_000379.4(XDH):c.1751A>C (p.Asp584Ala)	XDH (D584A)	Single nucleotide variant (missense variant)	XDH-related condition +2 more	GBenign/Likely benign
Select item 779628	NM_000379.4(XDH):c.1726C>T (p.Arg576Trp)	XDH (R576W)	Single nucleotide variant (missense variant)	Xanthinuria type II +2 more	GConflicting classifications of pathogenicity
Select item 1414261	NM_000379.4(XDH):c.1602C>T (p.Asp534=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GConflicting classifications of pathogenicity
Select item 2081180	NM_000379.4(XDH):c.1494C>T (p.Pro498=)	XDH	Single nucleotide variant (synonymous variant)	Xanthinuria type II +1 more	GLikely benign
Select item 749384	NM_000379.4(XDH):c.1041C>T (p.Ser347=)	XDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 800266	NM_000379.4(XDH):c.1037C>T (p.Ala346Val)	XDH (A346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 786264	NM_000379.4(XDH):c.882C>T (p.Pro294=)	XDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895715	NM_000379.4(XDH):c.670C>T (p.Arg224Trp)	XDH (R224W)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 895718	NM_000379.4(XDH):c.636T>C (p.Phe212=)	XDH	Single nucleotide variant (synonymous variant)	Hereditary xanthinuria type 1 +2 more	GBenign/Likely benign
Select item 3048445	NM_000379.4(XDH):c.339C>T (p.Cys113=)	XDH	Single nucleotide variant (synonymous variant)	XDH-related condition	GLikely benign
Select item 3046879	NM_000379.4(XDH):c.159G>A (p.Val53=)	XDH	Single nucleotide variant (synonymous variant)	XDH-related condition	GLikely benign

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Items: 33