KIZ-AS1[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
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 1524469	NM_018474.6(KIZ):c.1353-2A>C	KIZ, KIZ-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 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 1143265	NM_018474.6(KIZ):c.1368A>G (p.Pro456=)	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 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 838416	NM_018474.6(KIZ):c.1382C>T (p.Pro461Leu)	KIZ, KIZ-AS1 (P328L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1043251	NM_018474.6(KIZ):c.1384dup (p.Arg462fs)	KIZ, KIZ-AS1 (R329fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
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 3028550	NM_018474.6(KIZ):c.1386_1387insA (p.Ala463fs)	KIZ, KIZ-AS1 (A330fs +4 more)	Insertion (frameshift variant)	Retinal dystrophy	GBenign
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 967049	NM_018474.6(KIZ):c.1387G>A (p.Ala463Thr)	KIZ, KIZ-AS1 (A414T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 866866	NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs)	KIZ, KIZ-AS1 (Q364fs +4 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
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 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 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 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 1036083	NM_018474.6(KIZ):c.1412C>T (p.Thr471Ile)	KIZ, KIZ-AS1 (T338I +4 more)	Single nucleotide variant (missense variant +1 more)	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 1120495	NM_018474.6(KIZ):c.1422A>G (p.Glu474=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1007578	NM_018474.6(KIZ):c.1429A>T (p.Asn477Tyr)	KIZ, KIZ-AS1 (N344Y +4 more)	Single nucleotide variant (missense variant +1 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 1101515	NM_018474.6(KIZ):c.1446+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 1917526	NM_018474.6(KIZ):c.1447-13del	KIZ, KIZ-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1065922	NM_018474.6(KIZ):c.1447-2A>G	KIZ, KIZ-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1155755	NM_018474.6(KIZ):c.1455A>T (p.Ala485=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1539766	NM_018474.6(KIZ):c.1470C>T (p.Ala490=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 780601	NM_018474.6(KIZ):c.1488C>T (p.Gly496=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1014062	NM_018474.6(KIZ):c.1490G>A (p.Arg497His)	KIZ, KIZ-AS1 (R364H +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 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 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 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 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 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 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 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 1909229	NM_018474.6(KIZ):c.1518A>C (p.Ser506=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733973	NM_018474.6(KIZ):c.1520_1522del (p.Ser507del)	KIZ, KIZ-AS1 (S393del +6 more)	Deletion (inframe_deletion)	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 1047723	NM_018474.6(KIZ):c.1534T>A (p.Ser512Thr)	KIZ, KIZ-AS1 (S391T +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 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 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 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 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 1119220	NM_018474.6(KIZ):c.1590C>T (p.Asn530=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955594	NM_018474.6(KIZ):c.1612G>A (p.Glu538Lys)	KIZ-AS1, KIZ (E405K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028115	NM_018474.6(KIZ):c.1612+2T>G	KIZ, KIZ-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2959644	NM_018474.6(KIZ):c.1613-17dup	KIZ, KIZ-AS1	Duplication (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 1577094	NM_018474.6(KIZ):c.1613-9A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1958958	NM_018474.6(KIZ):c.1613-1G>A	KIZ, KIZ-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 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 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 1143517	NM_018474.6(KIZ):c.1635C>T (p.Asp545=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1016443	NM_018474.6(KIZ):c.1640G>A (p.Ser547Asn)	KIZ, KIZ-AS1 (S414N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1534318	NM_018474.6(KIZ):c.1662A>G (p.Ala554=)	KIZ, KIZ-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 939337	NM_018474.6(KIZ):c.1678+2T>C	KIZ, KIZ-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 1973059	NM_018474.6(KIZ):c.1678+9A>G	KIZ, KIZ-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 87