ClinVar for MedGen (Select 436370) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362653	NM_001048166.1(STIL):c.3166C>A (p.Pro1056Thr)	STIL (P1009T +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2690166	NM_001048166.1(STIL):c.1011A>C (p.Leu337Phe)	STIL (L290F +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2690165	NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)	STIL	Microsatellite (nonsense)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2671729	NM_001048166.1(STIL):c.2372C>T (p.Ala791Val)	STIL (A744V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2436508	NM_001048166.1(STIL):c.417A>G (p.Ile139Met)	STIL (I139M)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2433997	NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)	STIL (N1115fs +4 more)	Microsatellite (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 2412703	NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)	STIL (E1149* +4 more)	Single nucleotide variant (nonsense)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1705699	NM_001048166.1(STIL):c.2488_2489del (p.Asp830fs)	STIL (D783fs +1 more)	Deletion (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 1705313	NM_001048166.1(STIL):c.731T>G (p.Leu244Trp)	STIL (L197W +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1683274	NM_001048166.1(STIL):c.384dup (p.His129fs)	STIL (H129fs)	Duplication (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 1679330	NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter)	STIL (Q313* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 1679243	NM_001048166.1(STIL):c.443C>T (p.Ser148Leu)	STIL (S148L)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1418596	NM_001048166.1(STIL):c.2676G>C (p.Gln892His)	STIL (Q827H +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1339148	NM_001048166.1(STIL):c.640C>A (p.Leu214Met)	STIL (L167M +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1302667	NM_001048166.1(STIL):c.1231C>A (p.His411Asn)	STIL (H364N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1206262	NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu)	STIL (P520L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1032103	NM_001048166.1(STIL):c.2453C>G (p.Thr818Ser)	STIL (T771S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1032102	NM_001048166.1(STIL):c.1507T>G (p.Cys503Gly)	STIL (C503G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028066	NM_001048166.1(STIL):c.1635T>G (p.Asn545Lys)	STIL (N498K +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1028065	NM_001048166.1(STIL):c.1628C>T (p.Ala543Val)	STIL (A543V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 982579	NM_001048166.1(STIL):c.66del (p.Pro23fs)	STIL (P23fs)	Deletion (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 977229	NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs)	STIL (L735fs +1 more)	Deletion (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 876726	NM_001048166.1(STIL):c.1847C>T (p.Pro616Leu)	STIL (P569L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876725	NM_001048166.1(STIL):c.1893T>G (p.Asp631Glu)	STIL (D631E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 876724	NM_001048166.1(STIL):c.2016C>T (p.Gly672=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876723	NM_001048166.1(STIL):c.2058A>C (p.Ala686=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876722	NM_001048166.1(STIL):c.2063C>T (p.Pro688Leu)	STIL (P688L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876679	NM_001048166.1(STIL):c.3839G>A (p.Arg1280His)	STIL (R1262H +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 876678	NM_001048166.1(STIL):c.*2C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876677	NM_001048166.1(STIL):c.*203C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 875780	NM_001048166.1(STIL):c.265+14A>T	STIL	Single nucleotide variant (intron variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 875779	NM_001048166.1(STIL):c.460C>A (p.Gln154Lys)	STIL (Q154K)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 875778	NM_001048166.1(STIL):c.481G>T (p.Asp161Tyr)	STIL (D161Y)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 875777	NM_001048166.1(STIL):c.521A>G (p.His174Arg)	STIL (H174R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 875730	NM_001048166.1(STIL):c.2359G>A (p.Gly787Ser)	STIL (G740S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 875729	NM_001048166.1(STIL):c.2456A>G (p.Lys819Arg)	STIL (K819R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875728	NM_001048166.1(STIL):c.2829G>C (p.Leu943Phe)	STIL (L878F +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 875683	NM_001048166.1(STIL):c.*730A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GLikely benign
Select item 875682	NM_001048166.1(STIL):c.*885C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 874842	NM_001048166.1(STIL):c.893A>T (p.Asn298Ile)	STIL (N298I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 874795	NM_001048166.1(STIL):c.3061C>T (p.His1021Tyr)	STIL (H1003Y +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GConflicting classifications of pathogenicity
Select item 874794	NM_001048166.1(STIL):c.3170A>G (p.Asn1057Ser)	STIL (N1057S +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873894	NM_001048166.1(STIL):c.1550A>G (p.His517Arg)	STIL (H470R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873893	NM_001048166.1(STIL):c.1576T>G (p.Ser526Ala)	STIL (S479A +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873845	NM_001048166.1(STIL):c.3491A>T (p.Gln1164Leu)	STIL (Q1146L +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873844	NM_001048166.1(STIL):c.3494T>C (p.Leu1165Pro)	STIL (L1100P +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873843	NM_001048166.1(STIL):c.3563G>T (p.Gly1188Val)	STIL (G1188V +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873842	NM_001048166.1(STIL):c.3579G>A (p.Thr1193=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 801490	NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr)	STIL (N818T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GLikely benign
Select item 737418	NM_001048166.1(STIL):c.454-10G>A	STIL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 737417	NM_001048166.1(STIL):c.3699C>T (p.Thr1233=)	STIL	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 546576	NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr)	STIL (P422T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 502127	NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)	STIL (R1279C +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 449275	NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)	STIL (S711L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 436885	NM_001048166.1(STIL):c.3754A>G (p.Ile1252Val)	STIL (I1251V +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 297573	NM_001048166.1(STIL):c.-121C>G	STIL	Single nucleotide variant (5 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297572	NM_001048166.1(STIL):c.-121C>T	STIL	Single nucleotide variant (5 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297571	NM_001048166.1(STIL):c.-88C>T	STIL	Single nucleotide variant (5 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297570	NM_001048166.1(STIL):c.-65C>G	STIL	Single nucleotide variant (5 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297569	NM_001048166.1(STIL):c.-44+15G>A	STIL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 297568	NM_001048166.1(STIL):c.25C>T (p.Arg9Trp)	STIL (R9W)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297565	NM_001048166.1(STIL):c.708T>C (p.Leu236=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297564	NM_001048166.1(STIL):c.957T>C (p.Cys319=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297563	NM_001048166.1(STIL):c.1005A>G (p.Glu335=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 297562	NM_001048166.1(STIL):c.1140C>T (p.Ser380=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297561	NM_001048166.1(STIL):c.1421A>G (p.His474Arg)	STIL (H474R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297560	NM_001048166.1(STIL):c.1667C>T (p.Ser556Phe)	STIL (S556F +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297559	NM_001048166.1(STIL):c.1699C>T (p.Pro567Ser)	STIL (P567S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 297558	NM_001048166.1(STIL):c.2064G>A (p.Pro688=)	STIL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297557	NM_001048166.1(STIL):c.2087A>T (p.Asn696Ile)	STIL (N696I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297556	NM_001048166.1(STIL):c.2350A>T (p.Met784Leu)	STIL (M784L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297555	NM_001048166.1(STIL):c.2384-13A>G	STIL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 297554	NM_001048166.1(STIL):c.2687G>T (p.Ser896Ile)	STIL (S895I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297553	NM_001048166.1(STIL):c.2847A>G (p.Leu949=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297552	NM_001048166.1(STIL):c.3207T>C (p.Ala1069=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 297551	NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe)	STIL (S1171F +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 297550	NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn)	STIL (D1192N +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 297549	NM_001048166.1(STIL):c.*252A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297548	NM_001048166.1(STIL):c.*316T>C	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GBenign
Select item 297547	NM_001048166.1(STIL):c.*545C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297546	NM_001048166.1(STIL):c.*577G>A	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GBenign
Select item 297545	NM_001048166.1(STIL):c.*599A>G	STIL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 297543	NM_001048166.1(STIL):c.*883A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297542	NM_001048166.1(STIL):c.*978T>C	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297541	NM_001048166.1(STIL):c.*992A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 290038	NM_001048166.1(STIL):c.1374C>G (p.His458Gln)	STIL (H458Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GUncertain significance
Select item 282750	NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)	STIL (N298D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 235445	NM_001048166.1(STIL):c.1055G>A (p.Arg352His)	STIL (R352H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 225064	NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg)	STIL (P410R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 218244	NM_001048166.1(STIL):c.453+5G>A	STIL	Single nucleotide variant (intron variant)	Microcephaly 7, primary, autosomal recessive	GPathogenic
Select item 212323	NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)	STIL (P1193L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194628	NM_001048166.1(STIL):c.2906A>G (p.His969Arg)	STIL (H969R +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 194209	NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)	STIL (V788I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 160069	NM_001048166.1(STIL):c.895T>A (p.Phe299Ile)	STIL (F299I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 160068	NM_001048166.1(STIL):c.467A>G (p.His156Arg)	STIL (H156R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 160067	NM_001048166.1(STIL):c.36G>A (p.Met12Ile)	STIL (M12I)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 160065	NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn)	STIL (D1143N +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign
Select item 160064	NM_001048166.1(STIL):c.3429C>T (p.Pro1143=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 160063	NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 160062	NM_001048166.1(STIL):c.3157G>A (p.Gly1053Ser)	STIL (G1052S +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance

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