ClinVar for Gene (Select 55857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288771	NM_018474.6(KIZ):c.1705A>C (p.Lys569Gln)	KIZ (K466Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288770	NM_018474.6(KIZ):c.1958A>G (p.Glu653Gly)	KIZ (E532G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115189	NM_018474.6(KIZ):c.955C>T (p.Pro319Ser)	KIZ (P186S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115187	NM_018474.6(KIZ):c.56G>A (p.Arg19Lys)	KIZ, LOC130065507 (R19K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115186	NM_018474.6(KIZ):c.1148G>A (p.Ser383Asn)	KIZ (S383N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3067398	NM_018474.6(KIZ):c.1392G>A (p.Gln464=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053570	NM_018474.6(KIZ):c.-19C>T	KIZ, LOC130065507	Single nucleotide variant (5 prime UTR variant +1 more)	KIZ-related disorder	GLikely benign
Select item 3045609	NM_018474.6(KIZ):c.282C>T (p.Phe94=)	KIZ, LOC130065509	Single nucleotide variant (synonymous variant +2 more)	KIZ-related disorder	GLikely benign
Select item 3036761	NM_018474.6(KIZ):c.1317A>G (p.Ser439=)	KIZ	Single nucleotide variant (synonymous variant)	KIZ-related disorder	GLikely benign
Select item 3028551	NM_018474.6(KIZ):c.1549A>G (p.Asn517Asp)	KIZ, KIZ-AS1 (N384D +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028550	NM_018474.6(KIZ):c.1386_1387insA (p.Ala463fs)	KIZ-AS1, KIZ (A330fs +4 more)	Insertion (frameshift variant)	Retinal dystrophy	GBenign
Select item 3028549	NM_018474.6(KIZ):c.1326A>G (p.Glu442=)	KIZ	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028548	NM_018474.6(KIZ):c.1264G>T (p.Ala422Ser)	KIZ (A289S +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028547	NM_018474.6(KIZ):c.1181C>T (p.Pro394Leu)	KIZ (P261L +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028545	NM_018474.6(KIZ):c.931G>A (p.Val311Ile)	KIZ (V178I +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028544	NM_018474.6(KIZ):c.868G>A (p.Asp290Asn)	KIZ (D157N +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028543	NM_018474.6(KIZ):c.276A>C (p.Val92=)	KIZ, LOC130065509	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028542	NM_018474.6(KIZ):c.193G>A (p.Glu65Lys)	KIZ (E65K)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028541	NM_018474.6(KIZ):c.117G>T (p.Lys39Asn)	KIZ (K39N)	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028540	NM_018474.6(KIZ):c.62_65del (p.Gly21fs)	KIZ, LOC130065507 (G21fs +1 more)	Deletion (5 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028539	NM_018474.6(KIZ):c.30C>A (p.Pro10=)	KIZ, LOC130065507 (P37T)	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028538	NM_001276389.2(KIZ):c.39dup (p.Pro14fs)	KIZ, LOC130065507 (P14fs)	Duplication (frameshift variant)	Retinal dystrophy	GBenign
Select item 3028537	NM_001276389.2(KIZ):c.27C>T (p.Thr9=)	KIZ, LOC130065507	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028536	NM_001276389.2(KIZ):c.14C>G (p.Ser5Cys)	KIZ, LOC130065507 (S5C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3010674	NM_018474.6(KIZ):c.1800C>T (p.Ser600=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008351	NM_018474.6(KIZ):c.752G>T (p.Cys251Phe)	KIZ (C148F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997027	NM_018474.6(KIZ):c.219T>C (p.Ala73=)	KIZ	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2959644	NM_018474.6(KIZ):c.1613-17dup	KIZ, KIZ-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2878594	NM_018474.6(KIZ):c.1043-10C>T	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869495	NM_018474.6(KIZ):c.1784-18T>C	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860960	NM_018474.6(KIZ):c.1353-8T>A	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2855585	NM_018474.6(KIZ):c.1784-10C>A	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844427	NM_018474.6(KIZ):c.1008T>C (p.Ser336=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832351	NM_018474.6(KIZ):c.1784-11G>T	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820150	NM_018474.6(KIZ):c.805A>T (p.Lys269Ter)	KIZ (K136* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2817114	NM_018474.6(KIZ):c.1824T>C (p.Ala608=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810774	NM_018474.6(KIZ):c.1925-14G>A	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809462	NM_018474.6(KIZ):c.315+8C>T	KIZ, LOC130065509	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799651	NM_018474.6(KIZ):c.1390C>T (p.Gln464Ter)	KIZ, KIZ-AS1 (Q415* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2784586	NM_018474.6(KIZ):c.1352+16T>G	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766547	NM_018474.6(KIZ):c.943A>T (p.Arg315Ter)	KIZ (R201* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2761907	NM_018474.6(KIZ):c.1776C>T (p.His592=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748276	NM_018474.6(KIZ):c.153-10A>G	KIZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745245	NM_018474.6(KIZ):c.1389A>G (p.Ala463=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739684	NM_018474.6(KIZ):c.543G>T (p.Gln181His)	KIZ (Q132H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697494	NM_018474.6(KIZ):c.1414T>C (p.Leu472=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652235	NM_018474.5(KIZ):c.-43_-42insA	KIZ, LOC130065507 (R13fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2608922	NM_018474.6(KIZ):c.615C>G (p.Asp205Glu)	KIZ (D205E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605915	NM_018474.6(KIZ):c.947C>T (p.Ala316Val)	KIZ (A183V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2559625	NM_018474.6(KIZ):c.444G>A (p.Met148Ile)	KIZ (M15I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547467	NM_018474.6(KIZ):c.858C>G (p.Asn286Lys)	KIZ (N153K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506714	NM_018474.6(KIZ):c.56G>C (p.Arg19Thr)	KIZ, LOC130065507 (E45D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2426475	NC_000020.10:g.(?_21142492)_(21186242_?)del	KIZ	Deletion	not provided	GUncertain significance
Select item 2416920	NM_018474.6(KIZ):c.405+1dup	KIZ	Duplication (splice donor variant +1 more)	not provided	GPathogenic
Select item 2395744	NM_018474.6(KIZ):c.1901C>T (p.Pro634Leu)	KIZ (P531L +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323028	NM_018474.6(KIZ):c.16G>T (p.Ala6Ser)	KIZ, LOC130065507 (A6S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310445	NM_018474.6(KIZ):c.477T>A (p.Phe159Leu)	KIZ (F159L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282986	NM_018474.6(KIZ):c.1223T>C (p.Ile408Thr)	KIZ (I294T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252874	NM_018474.6(KIZ):c.1292T>C (p.Leu431Ser)	KIZ (L328S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2171907	NM_018474.6(KIZ):c.30C>T (p.Pro10=)	KIZ, LOC130065507 (P37S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2162803	NM_018474.6(KIZ):c.1760del (p.Asp587fs)	KIZ (D484fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2151289	NM_018474.6(KIZ):c.1283dup (p.Asn428fs)	KIZ (N314fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2140123	NM_018474.6(KIZ):c.118A>G (p.Lys40Glu)	KIZ (K40E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2134567	NM_018474.6(KIZ):c.1508G>C (p.Ser503Thr)	KIZ, KIZ-AS1 (S485T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131732	NM_018474.6(KIZ):c.305_309dup (p.Leu104fs)	KIZ, LOC130065509 (L104fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2131445	NM_018474.6(KIZ):c.233A>C (p.Gln78Pro)	KIZ, LOC130065509 (Q78P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2123885	NM_018474.6(KIZ):c.1352+20T>C	KIZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2121124	NM_018474.6(KIZ):c.143A>G (p.Asp48Gly)	KIZ (D48G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2120452	NM_018474.6(KIZ):c.1293_1294del (p.Gln432fs)	KIZ (Q318fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2119830	NM_018474.6(KIZ):c.130T>C (p.Tyr44His)	KIZ (Y44H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2119611	NM_018474.6(KIZ):c.1923T>A (p.Asn641Lys)	KIZ (N508K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116928	NM_018474.6(KIZ):c.466G>C (p.Ala156Pro)	KIZ (A23P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2114999	NM_018474.6(KIZ):c.872T>C (p.Leu291Ser)	KIZ (L242S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112991	NM_018474.6(KIZ):c.153-2A>G	KIZ	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2108214	NM_018474.6(KIZ):c.1405G>C (p.Val469Leu)	KIZ, KIZ-AS1 (V336L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108212	NM_018474.6(KIZ):c.1880+13A>G	KIZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2105411	NM_018474.6(KIZ):c.746C>A (p.Thr249Asn)	KIZ (T116N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099793	NM_018474.6(KIZ):c.514G>C (p.Asp172His)	KIZ (D58H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099587	NM_018474.6(KIZ):c.15C>G (p.Leu5=)	KIZ, LOC130065507 (R32G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2097553	NM_018474.6(KIZ):c.1571A>T (p.Lys524Ile)	KIZ, KIZ-AS1 (K410I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095907	NM_018474.6(KIZ):c.259G>C (p.Val87Leu)	KIZ, LOC130065509 (V87L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2095692	NM_018474.6(KIZ):c.1865G>C (p.Gly622Ala)	KIZ (G489A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082266	NM_018474.6(KIZ):c.362G>A (p.Ser121Asn)	KIZ (S72N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077889	NM_018474.6(KIZ):c.906A>G (p.Glu302=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061473	NM_018474.6(KIZ):c.1345A>G (p.Thr449Ala)	KIZ (T400A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060492	NM_018474.6(KIZ):c.992C>G (p.Ser331Cys)	KIZ (S217C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054791	NM_018474.6(KIZ):c.9G>A (p.Arg3=)	KIZ, LOC130065507 (D30N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2054433	NM_018474.6(KIZ):c.627A>G (p.Val209=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053915	NM_018474.6(KIZ):c.1207G>A (p.Glu403Lys)	KIZ (E403K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051502	NM_018474.6(KIZ):c.203A>G (p.Glu68Gly)	KIZ (E68G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2049410	NM_018474.6(KIZ):c.966G>A (p.Pro322=)	KIZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042127	NM_018474.6(KIZ):c.343A>G (p.Met115Val)	KIZ (M115V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2041444	NM_018474.6(KIZ):c.780T>G (p.His260Gln)	KIZ (H127Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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