ClinVar for MedGen (Select 347655) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064047	NM_144508.5(KNL1):c.1780G>A (p.Ala594Thr)	KNL1 (A594T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	Gnot provided
Select item 2689335	NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)	KNL1 (A493T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2584863	NM_144508.5(KNL1):c.5463C>G (p.Cys1821Trp)	KNL1 (C1847W +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2584862	NM_144508.5(KNL1):c.220A>T (p.Met74Leu)	KNL1 (M74L)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 2505080	NM_144508.5(KNL1):c.3490C>A (p.Leu1164Met)	KNL1 (L1164M +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	Gnot provided
Select item 2441015	NM_144508.5(KNL1):c.197_197+4del	KNL1	Deletion (splice donor variant)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 2433259	NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)	KNL1 (Q2195R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1701689	NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn)	KNL1 (S1022N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1690305	NM_144508.5(KNL1):c.1076del (p.Gly359fs)	KNL1 (G359fs +1 more)	Deletion (frameshift variant)	Microcephaly 4, primary, autosomal recessive	GPathogenic
Select item 1684287	NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer)	KNL1	Deletion (nonsense)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 1192621	NM_144508.5(KNL1):c.6595-27C>T	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 1192620	NM_144508.5(KNL1):c.6416-84C>T	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 1192619	NM_144508.5(KNL1):c.6173-13del	KNL1	Deletion (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 1192618	NM_144508.5(KNL1):c.322+123dup	KNL1	Duplication (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 1033179	NM_144508.5(KNL1):c.3139G>A (p.Asp1047Asn)	KNL1 (D1047N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1033178	NM_144508.5(KNL1):c.250+3A>G	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1027837	NM_144508.5(KNL1):c.4980G>C (p.Lys1660Asn)	KNL1 (K1686N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1027836	NM_144508.5(KNL1):c.2162C>A (p.Thr721Lys)	KNL1 (T721K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1027835	NM_144508.5(KNL1):c.2014A>G (p.Ile672Val)	KNL1 (I672V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 1027834	NM_144508.5(KNL1):c.1393A>C (p.Asn465His)	KNL1 (N465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 993006	NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn)	KNL1 (K846N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 887891	NM_144508.5(KNL1):c.5853C>A (p.Asn1951Lys)	KNL1 (N1977K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 887890	NM_144508.5(KNL1):c.5769T>C (p.Asp1923=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 887889	NM_144508.5(KNL1):c.5560A>G (p.Ile1854Val)	KNL1 (I1854V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 887757	NM_144508.5(KNL1):c.1789A>G (p.Ser597Gly)	KNL1 (S623G +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 887701	NM_144508.5(KNL1):c.375+11A>C	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 887700	NM_144508.5(KNL1):c.250+4A>G	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886697	NM_144508.5(KNL1):c.*460C>T	KNL1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886696	NM_144508.5(KNL1):c.*238T>C	KNL1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886645	NM_144508.5(KNL1):c.5391T>A (p.His1797Gln)	KNL1 (H1797Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886644	NM_144508.5(KNL1):c.5289G>A (p.Thr1763=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886643	NM_144508.5(KNL1):c.5273A>G (p.Asn1758Ser)	KNL1 (N1758S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886576	NM_144508.5(KNL1):c.3328T>G (p.Leu1110Val)	KNL1 (L1110V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886575	NM_144508.5(KNL1):c.3200G>A (p.Ser1067Asn)	KNL1 (S1093N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886516	NM_144508.5(KNL1):c.1754A>G (p.Gln585Arg)	KNL1 (Q611R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886515	NM_144508.5(KNL1):c.1523T>A (p.Ile508Lys)	KNL1 (I534K +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 886514	NM_144508.5(KNL1):c.1509A>G (p.Gln503=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 886450	NM_144508.5(KNL1):c.143A>G (p.Asn48Ser)	KNL1 (N48S)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885688	NM_144508.5(KNL1):c.*28A>G	KNL1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885687	NM_144508.5(KNL1):c.6439C>T (p.Arg2147Cys)	KNL1 (R2147C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885686	NM_144508.5(KNL1):c.6392C>T (p.Thr2131Ile)	KNL1 (T2131I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885624	NM_144508.5(KNL1):c.5127A>G (p.Gln1709=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885623	NM_144508.5(KNL1):c.4954A>G (p.Ile1652Val)	KNL1 (I1678V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885557	NM_144508.5(KNL1):c.2676T>C (p.Asp892=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 885491	NM_144508.5(KNL1):c.1429A>G (p.Ile477Val)	KNL1 (I477V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885490	NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser)	KNL1 (N451S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885431	NM_144508.5(KNL1):c.21G>A (p.Glu7=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885430	NM_144508.5(KNL1):c.10G>T (p.Val4Leu)	KNL1 (V4L)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885429	NM_144508.5(KNL1):c.-13G>T	KNL1	Single nucleotide variant (5 prime UTR variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 885428	NM_144508.5(KNL1):c.-100C>G	KNL1	Single nucleotide variant (5 prime UTR variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884748	NM_144508.5(KNL1):c.6215A>G (p.Asn2072Ser)	KNL1 (N2072S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884747	NM_144508.5(KNL1):c.6213-12T>C	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884746	NM_144508.5(KNL1):c.5890-14A>C	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884678	NM_144508.5(KNL1):c.4573A>G (p.Asn1525Asp)	KNL1 (N1525D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884616	NM_144508.5(KNL1):c.2491G>A (p.Glu831Lys)	KNL1 (E857K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884615	NM_144508.5(KNL1):c.2347G>A (p.Gly783Ser)	KNL1 (G783S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884614	NM_144508.5(KNL1):c.2315T>C (p.Ile772Thr)	KNL1 (I798T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884558	NM_144508.5(KNL1):c.1203T>C (p.Thr401=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884557	NM_144508.5(KNL1):c.949G>A (p.Asp317Asn)	KNL1 (D317N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 884556	NM_144508.5(KNL1):c.744G>A (p.Pro248=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807211	NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg)	KNL1 (K632R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 741731	NM_144508.5(KNL1):c.5607A>C (p.Thr1869=)	KNL1	Single nucleotide variant (synonymous variant)	KNL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 739413	NM_144508.5(KNL1):c.5064G>C (p.Pro1688=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 739302	NM_144508.5(KNL1):c.5112C>T (p.Asn1704=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 732669	NM_144508.5(KNL1):c.6131C>T (p.Pro2044Leu)	KNL1 (P2044L +1 more)	Single nucleotide variant (missense variant)	KNL1-related disorder +2 more	GBenign/Likely benign
Select item 732667	NM_144508.5(KNL1):c.5799-9G>A	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 730228	NM_144508.5(KNL1):c.6043A>C (p.Met2015Leu)	KNL1 (M2015L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 730097	NM_144508.5(KNL1):c.3405C>T (p.Ala1135=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 716182	NM_144508.5(KNL1):c.451A>G (p.Met151Val)	KNL1 (M151V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 495235	NM_144508.5(KNL1):c.1521A>G (p.Gln507=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 495234	NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr)	KNL1 (D2143Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 489318	NM_144508.5(KNL1):c.6416-13T>G	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 445492	NM_144508.5(KNL1):c.6212+5G>A	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 434584	NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs)	KNL1 (L1582fs +1 more)	Indel (frameshift variant)	Microcephaly 4, primary, autosomal recessive	GLikely pathogenic
Select item 434582	NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg)	KNL1 (G1437R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 434580	NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu)	KNL1 (P683L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 422641	NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala)	KNL1 (P2292A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 420525	NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)	KNL1 (N1617S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374462	NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly)	KNL1 (D431G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 315874	NM_144508.5(KNL1):c.*201A>G	KNL1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315873	NM_144508.5(KNL1):c.6594+14G>C	KNL1	Single nucleotide variant (intron variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315872	NM_144508.5(KNL1):c.6594+10G>A	KNL1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315871	NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg)	KNL1 (P2192R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GUncertain significance
Select item 315870	NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val)	KNL1 (L1876V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315869	NM_144508.5(KNL1):c.5538A>G (p.Glu1846=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 315868	NM_144508.5(KNL1):c.5433A>T (p.Ile1811=)	KNL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 315867	NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn)	KNL1 (D1801N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315866	NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp)	KNL1 (E1745D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315865	NM_144508.5(KNL1):c.4817A>T (p.His1606Leu)	KNL1 (H1606L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315864	NM_144508.5(KNL1):c.4619G>A (p.Gly1540Glu)	KNL1 (G1540E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 315863	NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile)	KNL1 (N1517I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315862	NM_144508.5(KNL1):c.4483A>C (p.Ser1495Arg)	KNL1 (S1495R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315861	NM_144508.5(KNL1):c.4393G>T (p.Val1465Leu)	KNL1 (V1465L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GUncertain significance
Select item 315860	NM_144508.5(KNL1):c.4000C>T (p.Pro1334Ser)	KNL1 (P1334S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GLikely benign
Select item 315859	NM_144508.5(KNL1):c.3999C>T (p.Cys1333=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 315858	NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val)	KNL1 (A1294V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315857	NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met)	KNL1 (I1191M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 315856	NM_144508.5(KNL1):c.2963T>A (p.Val988Glu)	KNL1 (V1014E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance
Select item 315854	NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly)	KNL1 (R910G +1 more)	Single nucleotide variant (missense variant)	Microcephaly 4, primary, autosomal recessive +1 more	GBenign
Select item 315853	NM_144508.5(KNL1):c.2634T>C (p.Tyr878=)	KNL1	Single nucleotide variant (synonymous variant)	Microcephaly 4, primary, autosomal recessive	GUncertain significance

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