Related gene-specific medical variations for Gene (Select 30851) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174343	NM_014604.4(TAX1BP3):c.46G>T (p.Val16Phe)	P2RX5-TAX1BP3, TAX1BP3 (V16F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174342	NM_014604.4(TAX1BP3):c.254T>C (p.Met85Thr)	P2RX5-TAX1BP3, TAX1BP3 (M85T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3174340	NM_014604.4(TAX1BP3):c.167A>G (p.Tyr56Cys)	P2RX5-TAX1BP3, TAX1BP3 (Y56C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2989889	NM_014604.4(TAX1BP3):c.162T>C (p.Gly54=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (intron variant +2 more)	not provided	GBenign
Select item 2843151	NM_014604.4(TAX1BP3):c.329C>T (p.Thr110Met)	P2RX5-TAX1BP3, TAX1BP3 (T110M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2802542	NM_014604.4(TAX1BP3):c.160-17G>T	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730797	NM_014604.4(TAX1BP3):c.356A>G (p.Gln119Arg)	P2RX5-TAX1BP3, TAX1BP3 (Q119R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2721453	NM_014604.4(TAX1BP3):c.159G>T (p.Lys53Asn)	P2RX5-TAX1BP3, TAX1BP3 (K53N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2618039	NM_014604.4(TAX1BP3):c.331C>T (p.Arg111Trp)	P2RX5-TAX1BP3, TAX1BP3 (R111W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604693	NM_014604.4(TAX1BP3):c.358C>A (p.Gln120Lys)	P2RX5-TAX1BP3, TAX1BP3 (Q120K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2545380	NM_014604.4(TAX1BP3):c.107G>T (p.Gly36Val)	P2RX5-TAX1BP3, TAX1BP3 (G36V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2474291	NM_014604.4(TAX1BP3):c.34G>T (p.Val12Leu)	P2RX5-TAX1BP3, TAX1BP3 (V12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419966	NM_014604.4(TAX1BP3):c.368T>C (p.Leu123Pro)	P2RX5-TAX1BP3, TAX1BP3 (L123P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2393433	NM_014604.4(TAX1BP3):c.352G>A (p.Val118Met)	P2RX5-TAX1BP3, TAX1BP3 (V118M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2339342	NM_014604.4(TAX1BP3):c.133C>A (p.Pro45Thr)	P2RX5-TAX1BP3, TAX1BP3 (P45T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226404	NM_014604.4(TAX1BP3):c.175C>T (p.Arg59Trp)	P2RX5-TAX1BP3, TAX1BP3 (R59W)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2038489	NM_014604.4(TAX1BP3):c.115C>G (p.Gln39Glu)	P2RX5-TAX1BP3, TAX1BP3 (Q39E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1963065	NM_014604.4(TAX1BP3):c.39+9G>A	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914271	NM_014604.4(TAX1BP3):c.210G>C (p.Gly70=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1912204	NM_014604.4(TAX1BP3):c.64C>T (p.Arg22Cys)	P2RX5-TAX1BP3, TAX1BP3 (R22C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1577462	NM_014604.4(TAX1BP3):c.120T>C (p.Asp40=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 889571	NM_004937.3(CTNS):c.*2568G>C	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 598745	NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)	TAX1BP3, P2RX5-TAX1BP3 (M78T)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary familial dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 372264	NM_014604.4(TAX1BP3):c.98T>C (p.Ile33Thr)	P2RX5-TAX1BP3, TAX1BP3 (I33T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 322925	NM_004937.3(CTNS):c.*2717A>G	TAX1BP3, CTNS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322924	NM_004937.3(CTNS):c.*2662G>A	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 322923	NM_004937.3(CTNS):c.*2628C>T	P2RX5-TAX1BP3, TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322922	NM_004937.3(CTNS):c.*2593A>T	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322921	NM_004937.3(CTNS):c.*2584C>T	TAX1BP3, CTNS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322920	NM_004937.3(CTNS):c.*2569C>T	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 322919	NM_004937.3(CTNS):c.*2550G>A	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 322918	NM_004937.3(CTNS):c.*2546G>C	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +2 more	GBenign
Select item 322917	NM_004937.3(CTNS):c.*2527G>A	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GUncertain significance

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Links from Gene

Items: 33