"Ambry Genetics"[submitter] AND "KANSL1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2157489	NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)	KANSL1 (H1041Q +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2529558	NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)	KANSL1 (A1064V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 388914	NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val)	KANSL1 (A1079V +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1506575	NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)	KANSL1 (E1076V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205754	NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)	KANSL1 (E1049G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 392273	NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)	KANSL1 (T1018I +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +2 more	GBenign/Likely benign
Select item 2082429	NM_015443.4(KANSL1):c.3028C>G (p.Pro1010Ala)	KANSL1 (P1009A +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1627616	NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)	KANSL1 (P966H +1 more)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2262209	NM_015443.4(KANSL1):c.2857G>A (p.Gly953Ser)	KANSL1 (G467S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985362	NM_015443.4(KANSL1):c.2837+1G>A	KANSL1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 520935	NM_015443.4(KANSL1):c.2762A>G (p.His921Arg)	KANSL1 (H921R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385703	NM_015443.4(KANSL1):c.2752G>A (p.Ala918Thr)	KANSL1 (A432T +9 more)	Single nucleotide variant (missense variant)	KANSL1-related condition +1 more	GUncertain significance
Select item 2277959	NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)	KANSL1 (S418* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 323770	NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)	KANSL1 (T814S)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +2 more	GConflicting classifications of pathogenicity
Select item 205745	NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr)	KANSL1 (M805T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 648725	NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)	KANSL1 (H802Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2232024	NM_015443.4(KANSL1):c.2236A>T (p.Thr746Ser)	KANSL1 (T324S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205794	NM_015443.4(KANSL1):c.2159G>A (p.Arg720His)	KANSL1 (R720H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2479124	NM_015443.4(KANSL1):c.2155G>C (p.Ala719Pro)	KANSL1 (A297P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1168578	NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)	KANSL1 (S704L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 205740	NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro)	KANSL1 (S704P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2232486	NM_015443.4(KANSL1):c.2020+1G>A	KANSL1	Single nucleotide variant (splice donor variant)	Koolen-de Vries syndrome +1 more	GPathogenic
Select item 1426028	NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)	KANSL1 (H649D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521751	NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)	KANSL1 (N620T)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 665668	NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe)	KANSL1 (S584F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2266624	NM_015443.4(KANSL1):c.1727G>T (p.Arg576Leu)	KANSL1 (R542L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277371	NM_015443.4(KANSL1):c.1576A>G (p.Ile526Val)	KANSL1 (I526V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205789	NM_015443.4(KANSL1):c.1565A>G (p.His522Arg)	KANSL1 (H522R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 521981	NM_015443.4(KANSL1):c.1269del (p.Glu424fs)	KANSL1 (E424fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2482093	NM_015443.4(KANSL1):c.1166C>T (p.Ala389Val)	KANSL1 (A389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539783	NM_015443.4(KANSL1):c.1165G>A (p.Ala389Thr)	KANSL1 (A389T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985426	NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs)	KANSL1 (T347fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521688	NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)	KANSL1 (R348*)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome +2 more	GPathogenic
Select item 2476091	NM_015443.4(KANSL1):c.986T>C (p.Leu329Ser)	KANSL1 (L329S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335955	NM_015443.4(KANSL1):c.936G>C (p.Gln312His)	KANSL1 (Q312H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 31695	NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)	KANSL1 (Q306*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 205808	NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys)	KANSL1 (R299C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 421289	NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)	KANSL1 (R290*)	Single nucleotide variant (nonsense)	Koolen-de Vries syndrome +3 more	GConflicting classifications of pathogenicity
Select item 468412	NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)	KANSL1 (L270fs)	Deletion (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2559679	NM_015443.4(KANSL1):c.764G>T (p.Ser255Ile)	KANSL1 (S255I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 205776	NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)	KANSL1 (Q243K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 934295	NM_015443.4(KANSL1):c.709A>G (p.Met237Val)	KANSL1 (M237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205774	NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp)	KANSL1 (N230D)	Single nucleotide variant (missense variant)	Koolen-de Vries syndrome +2 more	GBenign/Likely benign
Select item 385571	NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp)	KANSL1 (N207D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 834256	NM_015443.4(KANSL1):c.613A>T (p.Met205Leu)	KANSL1 (M205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205770	NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)	KANSL1 (G191C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1024494	NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)	KANSL1 (S173F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205768	NM_015443.4(KANSL1):c.500A>G (p.His167Arg)	KANSL1 (H167R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205766	NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)	KANSL1 (Q99R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2556867	NM_015443.4(KANSL1):c.271C>T (p.Pro91Ser)	KANSL1 (P91S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 205765	NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser)	KANSL1 (N41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 833964	NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala)	KANSL1 (P25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 52