"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIAA1549" - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3035473	NM_001164665.2(KIAA1549):c.5736C>A (p.Thr1912=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign
Select item 719440	NM_001164665.2(KIAA1549):c.5662G>A (p.Gly1888Ser)	KIAA1549 (G1888S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1405182	NM_001164665.2(KIAA1549):c.5598C>T (p.Ala1866=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1168820	NM_001164665.2(KIAA1549):c.5469C>T (p.His1823=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1581488	NM_001164665.2(KIAA1549):c.4872C>T (p.Ser1624=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 3040906	NM_001164665.2(KIAA1549):c.4560C>T (p.Thr1520=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign
Select item 1142691	NM_001164665.2(KIAA1549):c.4479G>A (p.Pro1493=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 1149731	NM_001164665.2(KIAA1549):c.4380C>T (p.His1460=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 1148679	NM_001164665.2(KIAA1549):c.4308C>T (p.Ala1436=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2192421	NM_001164665.2(KIAA1549):c.4302G>A (p.Pro1434=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1081335	NM_001164665.2(KIAA1549):c.4299G>A (p.Thr1433=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 780723	NM_001164665.2(KIAA1549):c.4184G>A (p.Ser1395Asn)	KIAA1549 (S1395N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 725283	NM_001164665.2(KIAA1549):c.4164G>A (p.Ser1388=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GBenign/Likely benign
Select item 737106	NM_001164665.2(KIAA1549):c.4158G>A (p.Thr1386=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1365432	NM_001164665.2(KIAA1549):c.4032+5C>T	KIAA1549	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 726094	NM_001164665.2(KIAA1549):c.3834T>C (p.Gly1278=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GBenign/Likely benign
Select item 1146463	NM_001164665.2(KIAA1549):c.3795C>G (p.Leu1265=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1102391	NM_001164665.2(KIAA1549):c.3783C>T (p.Asn1261=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 2628696	NM_001164665.2(KIAA1549):c.3361G>C (p.Gly1121Arg)	KIAA1549 (G1121R)	Single nucleotide variant (missense variant)	KIAA1549-related disorder	GUncertain significance
Select item 1639251	NM_001164665.2(KIAA1549):c.3009C>T (p.Ser1003=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 1081201	NM_001164665.2(KIAA1549):c.2857G>A (p.Asp953Asn)	KIAA1549 (D953N)	Single nucleotide variant (missense variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 732852	NM_001164665.2(KIAA1549):c.2710G>A (p.Ala904Thr)	KIAA1549 (A904T)	Single nucleotide variant (missense variant)	KIAA1549-related disorder +2 more	GBenign
Select item 711889	NM_001164665.2(KIAA1549):c.2642C>T (p.Thr881Met)	KIAA1549 (T881M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1624992	NM_001164665.2(KIAA1549):c.2346C>T (p.Ala782=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 1167947	NM_001164665.2(KIAA1549):c.2314C>T (p.Pro772Ser)	KIAA1549 (P772S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170050	NM_001164665.2(KIAA1549):c.2181C>T (p.Leu727=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1127362	NM_001164665.2(KIAA1549):c.2148G>T (p.Val716=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 1157499	NM_001164665.2(KIAA1549):c.2082G>A (p.Ser694=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 735615	NM_001164665.2(KIAA1549):c.1802C>T (p.Ser601Leu)	KIAA1549 (S601L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1169674	NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=)	KIAA1549	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 740347	NM_001164665.2(KIAA1549):c.1136C>G (p.Ser379Cys)	KIAA1549 (S379C)	Single nucleotide variant (missense variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 2635539	NM_001164665.2(KIAA1549):c.727G>A (p.Val243Ile)	KIAA1549 (V243I)	Single nucleotide variant (missense variant)	KIAA1549-related disorder	GUncertain significance
Select item 1157169	NM_001164665.2(KIAA1549):c.726C>T (p.Ile242=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder +1 more	GLikely benign
Select item 2055108	NM_001164665.2(KIAA1549):c.676G>T (p.Ala226Ser)	KIAA1549 (A226S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1166133	NM_001164665.2(KIAA1549):c.462C>G (p.Asp154Glu)	KIAA1549 (D154E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3043930	NM_001164665.2(KIAA1549):c.187+6C>T	KIAA1549	Single nucleotide variant (intron variant)	KIAA1549-related disorder	GLikely benign
Select item 3040644	NM_001164665.2(KIAA1549):c.174C>T (p.Ala58=)	KIAA1549	Single nucleotide variant (synonymous variant)	KIAA1549-related disorder	GLikely benign

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Items: 37