Related gene-specific medical variations for Gene (Select 284058) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243060	NC_000017.10:g.(?_44108842)_(44159928_?)del	KANSL1	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 3243059	NC_000017.10:g.(?_44143883)_(44159928_?)dup	KANSL1	Duplication	Koolen-de Vries syndrome	GUncertain significance
Select item 3243058	NC_000017.10:g.(?_44108842)_(44159928_?)dup	KANSL1	Duplication	Koolen-de Vries syndrome	GLikely benign
Select item 3065841	NM_015443.4(KANSL1):c.1213A>G (p.Ser405Gly)	KANSL1 (S405G)	Single nucleotide variant (missense variant +1 more)	Koolen-de Vries syndrome	GUncertain significance
Select item 2685602	GRCh37/hg19 17q21.31(chr17:44135737-44212416)x1	KANSL1	Copy number loss	not provided	GLikely pathogenic
Select item 2671910	NM_015443.4(KANSL1):c.1958dup (p.Leu654fs)	KANSL1 (L232fs +2 more)	Duplication (frameshift variant)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 2663774	NM_015443.4(KANSL1):c.2695A>T (p.Lys899Ter)	KANSL1 (K413* +9 more)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 2627767	NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)	KANSL1 (Q1013E +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2441965	NM_015443.4(KANSL1):c.2772_2776del (p.Cys924_Glu926delinsTer)	KANSL1	Deletion (nonsense +1 more)	Koolen-de Vries syndrome	GPathogenic
Select item 2432957	NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys)	KANSL1 (R443K +9 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2432956	NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr)	KANSL1 (A169T +2 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2432955	NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)	KANSL1 (R1026G +11 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2432953	NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys)	KANSL1 (Q116K)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 2432952	NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)	KANSL1 (S335G +4 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 1807483	NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)	KANSL1 (K69E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700178	NM_015443.4(KANSL1):c.1110del (p.Phe370_Leu371insTer)	KANSL1	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1698373	NM_015443.4:c.1431+1_1432-1del	KANSL1	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 1324605	NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter)	KANSL1 (Q99*)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome	GLikely pathogenic
Select item 987183	NM_015443.4(KANSL1):c.2542-2A>G	KANSL1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 986881	NM_015443.4(KANSL1):c.2667-1G>A	KANSL1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 975253	NM_015443.4(KANSL1):c.2119C>T (p.His707Tyr)	KANSL1 (H707Y)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 973005	GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1	KANSL1	Copy number loss	not provided	Gnot provided
Select item 872791	NM_015443.4(KANSL1):c.2667-4dup	KANSL1	Duplication (intron variant)	not provided	GUncertain significance
Select item 790924	NM_001193466.1:c.1290-?_1431+?dup	KANSL1	Duplication	not provided	GBenign
Select item 565273	NM_015443.4(KANSL1):c.2902del (p.Gln968fs)	KANSL1 (Q968fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 548606	NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp)	KANSL1 (N550D)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome	GUncertain significance
Select item 376773	NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn)	KANSL1 (K616N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 221878	GRCh37/hg19 17q21.31(chr17:44249096-44293020)x3	KANSL1	Copy number gain	Premature ovarian failure	GBenign
Select item 38929	NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs)	KANSL1 (I623fs)	Deletion (frameshift variant)	Koolen-de Vries syndrome	Gnot provided

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Links from Gene

Items: 29