26564[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 2261969	NM_144696.6(AXDND1):c.38C>G (p.Ser13Cys)	AXDND1 (S13C)	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 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 2206919	NM_144696.6(AXDND1):c.127A>G (p.Met43Val)	AXDND1 (M43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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
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 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 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 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 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 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 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 2275864	NM_144696.6(AXDND1):c.688A>G (p.Thr230Ala)	AXDND1 (T230A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212893	NM_144696.6(AXDND1):c.710T>A (p.Val237Glu)	AXDND1 (V237E)	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 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 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 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 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 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 2211874	NM_144696.6(AXDND1):c.1022G>A (p.Arg341Gln)	AXDND1 (R341Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 2273911	NM_144696.6(AXDND1):c.1433G>A (p.Ser478Asn)	AXDND1 (S478N)	Single nucleotide variant (missense variant +1 more)	not specified	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 3132457	NM_144696.6(AXDND1):c.1684C>T (p.Arg562Trp)	AXDND1 (R562W)	Single nucleotide variant (missense variant)	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 2235756	NM_144696.6(AXDND1):c.1781G>A (p.Arg594Lys)	AXDND1 (R594K)	Single nucleotide variant (missense variant)	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 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 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 2251342	NM_144696.6(AXDND1):c.1928A>G (p.Lys643Arg)	AXDND1 (K643R)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2205623	NM_144696.6(AXDND1):c.2843A>G (p.Asp948Gly)	AXDND1 (D948G)	Single nucleotide variant (missense variant +1 more)	Male infertility +1 more	GUncertain significance
Select item 2251044	NM_144696.6(AXDND1):c.2867C>A (p.Thr956Asn)	AXDND1 (T956N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 2245853	NM_144696.6(AXDND1):c.3007A>G (p.Asn1003Asp)	AXDND1 (N1003D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 224486	NM_014625.4(NPHS2):c.*428A>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 873761	NM_014625.4(NPHS2):c.*422T>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 293842	NM_014625.4(NPHS2):c.*340C>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 224485	NM_014625.4(NPHS2):c.*258A>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 293843	NM_014625.4(NPHS2):c.*209C>G	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 224484	NM_014625.4(NPHS2):c.*200G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 874714	NM_014625.4(NPHS2):c.*199C>T	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 293844	NM_014625.4(NPHS2):c.*173G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GUncertain significance
Select item 224483	NM_014625.4(NPHS2):c.*157G>A	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +1 more	GBenign
Select item 874715	NM_014625.4(NPHS2):c.*127G>C	AXDND1, NPHS2	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 874716	NM_014625.4(NPHS2):c.*126C>T	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 293845	NM_014625.4(NPHS2):c.*54G>C	NPHS2, AXDND1	Single nucleotide variant (3 prime UTR variant +1 more)	Nephrotic syndrome, type 2 +2 more	GBenign
Select item 1648585	NM_014625.4(NPHS2):c.1140T>C (p.Ser380=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 558528	NM_014625.4(NPHS2):c.1129_1134del (p.Lys377_Lys378del)	AXDND1, NPHS2	Deletion (inframe_deletion +1 more)	Nephrotic syndrome, type 2	GUncertain significance
Select item 2065715	NM_014625.4(NPHS2):c.1130A>G (p.Lys377Arg)	AXDND1, NPHS2 (K309R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446062	NM_014625.4(NPHS2):c.1127A>G (p.Lys376Arg)	AXDND1, NPHS2 (K308R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344835	NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr)	AXDND1, NPHS2 (N306Y +1 more)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GLikely pathogenic
Select item 734422	NM_014625.4(NPHS2):c.1113G>A (p.Glu371=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	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 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 989640	NM_014625.4(NPHS2):c.1097C>T (p.Pro366Leu)	AXDND1, NPHS2 (P298L +1 more)	Single nucleotide variant (missense variant +1 more)	Steroid-resistant nephrotic syndrome	GUncertain significance
Select item 1610077	NM_014625.4(NPHS2):c.1086C>T (p.Pro362=)	AXDND1, NPHS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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