ClinVar for Gene (Select 126859) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349861	NM_014625.4(NPHS2):c.824dup (p.His276fs)	AXDND1, NPHS2 (H208fs +1 more)	Duplication (frameshift variant +1 more)	NPHS2-related disorder	GPathogenic
Select item 3346051	NM_014625.4(NPHS2):c.965G>T (p.Arg322Leu)	AXDND1, NPHS2 (R254L +1 more)	Single nucleotide variant (missense variant +1 more)	NPHS2-related disorder	GUncertain significance
Select item 3339868	NM_014625.4(NPHS2):c.799G>T (p.Asp267Tyr)	AXDND1, NPHS2 (D199Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334242	NM_144696.6(AXDND1):c.1974G>C (p.Gln658His)	AXDND1 (Q658H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334232	NM_144696.6(AXDND1):c.824T>C (p.Val275Ala)	AXDND1 (V275A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334222	NM_144696.6(AXDND1):c.569A>G (p.Glu190Gly)	AXDND1 (E190G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334212	NM_144696.6(AXDND1):c.775C>A (p.Gln259Lys)	AXDND1 (Q259K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334201	NM_144696.6(AXDND1):c.2682A>C (p.Lys894Asn)	AXDND1 (K894N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334191	NM_144696.6(AXDND1):c.2598G>C (p.Glu866Asp)	AXDND1 (E866D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334180	NM_144696.6(AXDND1):c.2323C>G (p.Leu775Val)	AXDND1 (L775V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334170	NM_144696.6(AXDND1):c.2100G>C (p.Glu700Asp)	AXDND1 (E700D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334161	NM_144696.6(AXDND1):c.1101G>T (p.Lys367Asn)	AXDND1 (K367N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247987	NC_000001.10:g.(?_179520308)_(179544999_?)del	AXDND1, NPHS2	Deletion	not provided	GPathogenic
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3239975	NM_014625.4(NPHS2):c.853C>T (p.Gln285Ter)	AXDND1, NPHS2 (Q217* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 3236169	NM_144696.6(AXDND1):c.937C>T (p.Arg313Ter)	AXDND1 (R313*)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia	GLikely pathogenic
Select item 3233443	NM_144696.6(AXDND1):c.2451A>C (p.Lys817Asn)	AXDND1 (K817N)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3233442	NM_144696.6(AXDND1):c.2602G>A (p.Ala868Thr)	AXDND1 (A868T)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3233441	NM_144696.6(AXDND1):c.1607T>A (p.Leu536Gln)	AXDND1 (L536Q)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 3132471	NM_144696.6(AXDND1):c.971A>G (p.Tyr324Cys)	AXDND1 (Y324C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132470	NM_144696.6(AXDND1):c.761T>C (p.Ile254Thr)	AXDND1 (I254T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132469	NM_144696.6(AXDND1):c.43T>A (p.Ser15Thr)	AXDND1 (S15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132468	NM_144696.6(AXDND1):c.2980G>C (p.Glu994Gln)	AXDND1 (E994Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132467	NM_144696.6(AXDND1):c.2916G>C (p.Lys972Asn)	AXDND1 (K972N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132466	NM_144696.6(AXDND1):c.2897T>C (p.Leu966Ser)	AXDND1 (L966S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132465	NM_144696.6(AXDND1):c.2483G>A (p.Arg828Gln)	AXDND1 (R828Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3132464	NM_144696.6(AXDND1):c.2372A>G (p.Glu791Gly)	AXDND1 (E791G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132463	NM_144696.6(AXDND1):c.2312C>T (p.Thr771Ile)	AXDND1 (T771I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132462	NM_144696.6(AXDND1):c.2285T>C (p.Leu762Ser)	AXDND1 (L762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132460	NM_144696.6(AXDND1):c.1817C>T (p.Pro606Leu)	AXDND1 (P606L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132459	NM_144696.6(AXDND1):c.1793A>G (p.Asp598Gly)	AXDND1 (D598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132457	NM_144696.6(AXDND1):c.1684C>T (p.Arg562Trp)	AXDND1 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132456	NM_144696.6(AXDND1):c.1427C>G (p.Ser476Cys)	AXDND1 (S476C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132455	NM_144696.6(AXDND1):c.1148G>T (p.Arg383Ile)	AXDND1 (R383I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132454	NM_144696.6(AXDND1):c.1135T>C (p.Tyr379His)	AXDND1 (Y379H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132453	NM_144696.6(AXDND1):c.1113A>G (p.Ile371Met)	AXDND1 (I371M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3132452	NM_144696.6(AXDND1):c.1028A>G (p.His343Arg)	AXDND1 (H343R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2994526	NM_014625.4(NPHS2):c.794+18T>C	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983779	NM_014625.4(NPHS2):c.795-18G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976647	NM_014625.4(NPHS2):c.794+20G>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955449	NM_014625.4(NPHS2):c.873+10C>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911296	NM_014625.4(NPHS2):c.794+13T>A	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892410	NM_014625.4(NPHS2):c.804G>A (p.Val268=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890387	NM_014625.4(NPHS2):c.1059C>A (p.Pro353=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887742	NM_014625.4(NPHS2):c.1083C>G (p.Leu361=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883744	NM_014625.4(NPHS2):c.865A>G (p.Lys289Glu)	AXDND1, NPHS2 (K289E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2882849	NM_014625.4(NPHS2):c.1104A>G (p.Lys368=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872994	NM_014625.4(NPHS2):c.739-20C>T	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2855023	NM_014625.4(NPHS2):c.987T>G (p.Ser329=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852356	NM_014625.4(NPHS2):c.873+8C>T	NPHS2, AXDND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838466	NM_014625.4(NPHS2):c.936G>A (p.Leu312=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830810	NM_014625.4(NPHS2):c.834G>A (p.Leu278=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830307	NM_014625.4(NPHS2):c.739-7T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2825732	NM_014625.4(NPHS2):c.795-19T>G	NPHS2, AXDND1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813075	NM_014625.4(NPHS2):c.1110T>C (p.Val370=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803339	NM_014625.4(NPHS2):c.739-9T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2794168	NM_014625.4(NPHS2):c.874-16G>T	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776632	NM_014625.4(NPHS2):c.900T>C (p.Ala300=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751297	NM_014625.4(NPHS2):c.966A>G (p.Arg322=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749814	NM_014625.4(NPHS2):c.801T>C (p.Asp267=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2734048	NM_014625.4(NPHS2):c.973C>T (p.His325Tyr)	AXDND1, NPHS2 (H325Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2733808	NM_014625.4(NPHS2):c.794+19A>G	AXDND1, NPHS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715751	NM_014625.4(NPHS2):c.942C>T (p.Gly314=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2708162	NM_014625.4(NPHS2):c.891G>T (p.Ala297=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2677349	NM_014625.4(NPHS2):c.1049del (p.Leu350fs)	AXDND1, NPHS2 (L282fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677348	NM_014625.4(NPHS2):c.896del (p.Lys299fs)	AXDND1, NPHS2 (K231fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677343	NM_014625.4(NPHS2):c.969C>A (p.Tyr323Ter)	NPHS2, AXDND1 (Y255* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2677342	NM_014625.4(NPHS2):c.795-2A>C	AXDND1, NPHS2	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 2	GLikely pathogenic
Select item 2618892	NM_144696.6(AXDND1):c.2533G>A (p.Glu845Lys)	AXDND1 (E845K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618453	NM_144696.6(AXDND1):c.2878A>C (p.Asn960His)	AXDND1 (N960H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614663	NM_144696.6(AXDND1):c.1211C>T (p.Thr404Ile)	AXDND1 (T404I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2577104	NM_014625.4(NPHS2):c.802G>A (p.Val268Met)	AXDND1, NPHS2 (V200M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566947	NM_144696.6(AXDND1):c.1126C>A (p.His376Asn)	AXDND1 (H376N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559480	NM_144696.6(AXDND1):c.265C>T (p.Pro89Ser)	AXDND1 (P89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548399	NM_144696.6(AXDND1):c.654A>C (p.Arg218Ser)	AXDND1 (R218S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544188	NM_144696.6(AXDND1):c.455G>A (p.Arg152His)	AXDND1 (R152H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2539902	NM_144696.6(AXDND1):c.215A>G (p.Asn72Ser)	AXDND1 (N72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533082	NM_144696.6(AXDND1):c.127A>C (p.Met43Leu)	AXDND1 (M43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513750	NM_144696.6(AXDND1):c.2319G>A (p.Met773Ile)	AXDND1 (M773I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513611	NM_144696.6(AXDND1):c.1117G>A (p.Glu373Lys)	AXDND1 (E373K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482153	NM_144696.6(AXDND1):c.1214A>G (p.Tyr405Cys)	AXDND1 (Y405C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471076	NM_144696.6(AXDND1):c.2068G>A (p.Gly690Ser)	AXDND1 (G690S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459589	NM_144696.6(AXDND1):c.448T>G (p.Leu150Val)	AXDND1 (L150V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2434420	NM_014625.4(NPHS2):c.807G>T (p.Arg269Ser)	AXDND1, NPHS2 (R201S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 2405320	NM_144696.6(AXDND1):c.1231G>A (p.Val411Met)	AXDND1 (V411M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396737	NM_144696.6(AXDND1):c.737C>G (p.Thr246Arg)	AXDND1 (T246R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378233	NM_144696.6(AXDND1):c.2801A>G (p.Glu934Gly)	AXDND1 (E934G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372886	NM_144696.6(AXDND1):c.1753C>A (p.Gln585Lys)	AXDND1 (Q585K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370492	NM_144696.6(AXDND1):c.2243C>T (p.Ala748Val)	AXDND1 (A748V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369754	NM_144696.6(AXDND1):c.2164G>A (p.Asp722Asn)	AXDND1 (D722N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358751	NM_144696.6(AXDND1):c.2008G>A (p.Ala670Thr)	AXDND1 (A670T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356009	NM_144696.6(AXDND1):c.1799G>A (p.Gly600Asp)	AXDND1 (G600D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353802	NM_144696.6(AXDND1):c.562G>T (p.Gly188Cys)	AXDND1 (G188C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329236	NM_144696.6(AXDND1):c.3023C>T (p.Pro1008Leu)	AXDND1 (P1008L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318369	NM_144696.6(AXDND1):c.2051G>A (p.Gly684Asp)	AXDND1 (G684D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304702	NM_144696.6(AXDND1):c.1315A>G (p.Ile439Val)	AXDND1 (I439V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303020	NM_144696.6(AXDND1):c.2927A>G (p.Glu976Gly)	AXDND1 (E976G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285505	NM_144696.6(AXDND1):c.211G>A (p.Ala71Thr)	AXDND1 (A71T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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