Related gene-specific medical variations for Gene (Select 55857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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, KIZ-AS1 (A330fs +4 more)	Insertion (frameshift variant)	Retinal dystrophy	GBenign
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 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_018474.5(KIZ):c.-41dup	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)	LOC130065507, KIZ (S5C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2959644	NM_018474.6(KIZ):c.1613-17dup	KIZ, KIZ-AS1	Duplication (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 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 2745245	NM_018474.6(KIZ):c.1389A>G (p.Ala463=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 (intron variant +2 more)	not provided	GUncertain significance
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 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 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 2033484	NM_018474.6(KIZ):c.1447-1G>A	KIZ, KIZ-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2025841	NM_018474.6(KIZ):c.35C>A (p.Ser12Ter)	KIZ, LOC130065507 (S12*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2021043	NM_018474.6(KIZ):c.1483T>G (p.Cys495Gly)	KIZ, KIZ-AS1 (C362G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014422	NM_018474.6(KIZ):c.1496C>T (p.Ser499Leu)	KIZ-AS1, KIZ (S385L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013986	NM_018474.6(KIZ):c.89+18G>A	KIZ, LOC130065507	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011987	NM_018474.6(KIZ):c.1613-17A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2005845	NM_018474.6(KIZ):c.1356T>C (p.Pro452=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005101	NM_018474.6(KIZ):c.1364C>T (p.Thr455Ile)	KIZ, KIZ-AS1 (T406I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002905	NM_018474.6(KIZ):c.1643A>G (p.Lys548Arg)	KIZ, KIZ-AS1 (K530R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974801	NM_018474.6(KIZ):c.227G>A (p.Arg76Gln)	KIZ, LOC130065509 (R76Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1974143	NM_018474.6(KIZ):c.1482G>A (p.Glu494=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1973059	NM_018474.6(KIZ):c.1678+9A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971046	NM_018474.6(KIZ):c.1505A>G (p.His502Arg)	KIZ, KIZ-AS1 (H388R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958958	NM_018474.6(KIZ):c.1613-1G>A	KIZ, KIZ-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1948257	NM_018474.6(KIZ):c.1404T>G (p.His468Gln)	KIZ, KIZ-AS1 (H365Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945467	NM_018474.6(KIZ):c.32T>A (p.Leu11Gln)	KIZ, LOC130065507 (L11Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1944827	NM_018474.6(KIZ):c.89+9A>C	KIZ, LOC130065507	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1937478	NM_018474.6(KIZ):c.1513G>C (p.Glu505Gln)	KIZ, KIZ-AS1 (E391Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933998	NM_018474.6(KIZ):c.247C>T (p.Arg83Ter)	KIZ, LOC130065509 (R83*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1917526	NM_018474.6(KIZ):c.1447-13del	KIZ, KIZ-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1917301	NM_018474.6(KIZ):c.75C>T (p.His25=)	KIZ, LOC130065507 (R52W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1916889	NM_018474.6(KIZ):c.1446+1G>A	KIZ-AS1, KIZ	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1909229	NM_018474.6(KIZ):c.1518A>C (p.Ser506=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711538	NM_018474.6(KIZ):c.1371C>T (p.Asp457=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660857	NM_018474.6(KIZ):c.315+17T>C	KIZ, LOC130065509	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655533	NM_018474.6(KIZ):c.27G>A (p.Val9=)	KIZ, LOC130065507 (A36T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1655398	NM_018474.6(KIZ):c.1612+7A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649452	NM_018474.6(KIZ):c.1446+17T>C	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648972	NM_018474.6(KIZ):c.24C>G (p.Ala8=)	KIZ, LOC130065507 (R35G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1613108	NM_018474.6(KIZ):c.1533A>G (p.Pro511=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577094	NM_018474.6(KIZ):c.1613-9A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553341	NM_018474.6(KIZ):c.30C>G (p.Pro10=)	KIZ, LOC130065507 (P37A)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1539766	NM_018474.6(KIZ):c.1470C>T (p.Ala490=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534318	NM_018474.6(KIZ):c.1662A>G (p.Ala554=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524469	NM_018474.6(KIZ):c.1353-2A>C	KIZ, KIZ-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1516606	NM_018474.6(KIZ):c.274G>C (p.Val92Leu)	LOC130065509, KIZ (V92L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1509122	NM_018474.6(KIZ):c.1678+5A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1502105	NM_018474.6(KIZ):c.1489C>T (p.Arg497Cys)	KIZ, KIZ-AS1 (R376C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493659	NM_018474.6(KIZ):c.1501A>G (p.Ile501Val)	KIZ, KIZ-AS1 (I398V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486116	NM_018474.6(KIZ):c.1463G>A (p.Arg488Lys)	KIZ, KIZ-AS1 (R367K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480625	NM_018474.6(KIZ):c.284C>T (p.Thr95Ile)	KIZ, LOC130065509 (T95I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1478998	NM_018474.6(KIZ):c.1613-8A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1474961	NM_018474.6(KIZ):c.1628G>A (p.Cys543Tyr)	KIZ, KIZ-AS1 (C422Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467689	NM_018474.6(KIZ):c.1547A>G (p.Asp516Gly)	KIZ, KIZ-AS1 (D383G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463234	NM_018474.6(KIZ):c.1409C>T (p.Ala470Val)	KIZ, KIZ-AS1 (A356V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441412	NM_018474.6(KIZ):c.64C>T (p.Gln22Ter)	KIZ, LOC130065507 (P48L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1425920	NM_018474.6(KIZ):c.1642A>G (p.Lys548Glu)	KIZ, KIZ-AS1 (K415E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421357	NM_018474.6(KIZ):c.1621A>G (p.Ser541Gly)	KIZ, KIZ-AS1 (S408G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399389	NM_018474.6(KIZ):c.3G>A (p.Met1Ile)	KIZ, LOC130065507 (E28K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1395403	NM_018474.6(KIZ):c.1354C>G (p.Pro452Ala)	KIZ, KIZ-AS1 (P338A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388816	NM_018474.6(KIZ):c.315+5C>A	KIZ, LOC130065509	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1388694	NM_018474.6(KIZ):c.1625G>T (p.Gly542Val)	KIZ, KIZ-AS1 (G439V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386069	NM_018474.6(KIZ):c.1664A>G (p.Asp555Gly)	KIZ, KIZ-AS1 (D434G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384491	NM_018474.6(KIZ):c.1468G>T (p.Ala490Ser)	KIZ, KIZ-AS1 (A357S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382030	NM_018474.6(KIZ):c.1514A>T (p.Glu505Val)	KIZ, KIZ-AS1 (E384V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377309	NM_018474.6(KIZ):c.1588A>G (p.Asn530Asp)	KIZ, KIZ-AS1 (N397D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373205	NM_018474.6(KIZ):c.1387_1388insA (p.Ala463fs)	KIZ, KIZ-AS1 (A330fs +4 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1362774	NM_018474.6(KIZ):c.7C>T (p.Arg3Trp)	KIZ, LOC130065507 (P29L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1359675	NM_018474.6(KIZ):c.1510A>G (p.Ser504Gly)	KIZ, KIZ-AS1 (S371G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359249	NM_018474.6(KIZ):c.13C>T (p.Leu5Phe)	KIZ, LOC130065507 (P31L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1350697	NM_018474.6(KIZ):c.1516T>C (p.Ser506Pro)	KIZ, KIZ-AS1 (S385P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350496	NM_018474.6(KIZ):c.253G>C (p.Glu85Gln)	KIZ, LOC130065509 (E85Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1345185	NM_018474.6(KIZ):c.1579G>A (p.Val527Ile)	KIZ, KIZ-AS1 (V406I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206287	NM_018474.6(KIZ):c.1660G>T (p.Ala554Ser)	KIZ, KIZ-AS1 (A421S +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1169804	NM_018474.6(KIZ):c.1378G>A (p.Val460Ile)	KIZ-AS1, KIZ (V327I +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1166730	NM_018474.6(KIZ):c.1383G>A (p.Pro461=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	KIZ-related disorder +1 more	GBenign
Select item 1165624	NM_018474.6(KIZ):c.1387dup (p.Ala463fs)	KIZ, KIZ-AS1 (A330fs +4 more)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1155755	NM_018474.6(KIZ):c.1455A>T (p.Ala485=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143517	NM_018474.6(KIZ):c.1635C>T (p.Asp545=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1143265	NM_018474.6(KIZ):c.1368A>G (p.Pro456=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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