"Ambry Genetics"[submitter] AND "KSR1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289782	NM_001394583.1(KSR1):c.446G>A (p.Arg149His)	KSR1 (R149H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230361	NM_001394583.1(KSR1):c.448T>C (p.Cys150Arg)	KSR1 (C13R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491680	NM_001394583.1(KSR1):c.449G>A (p.Cys150Tyr)	KSR1 (C13Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365395	NM_001394583.1(KSR1):c.472G>A (p.Gly158Ser)	KSR1 (G158S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350917	NM_001394583.1(KSR1):c.550A>C (p.Ser184Arg)	KSR1 (S47R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589886	NM_001394583.1(KSR1):c.563C>T (p.Ala188Val)	KSR1 (A188V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234682	NM_001394583.1(KSR1):c.634A>C (p.Ser212Arg)	KSR1 (S75R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605545	NM_001394583.1(KSR1):c.676C>A (p.Arg226Ser)	KSR1 (R226S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525994	NM_001394583.1(KSR1):c.796C>T (p.His266Tyr)	KSR1 (H129Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362107	NM_001394583.1(KSR1):c.833G>A (p.Arg278Gln)	KSR1 (R141Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369987	NM_001394583.1(KSR1):c.836G>A (p.Arg279Gln)	KSR1 (R279Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291731	NM_001394583.1(KSR1):c.860G>A (p.Arg287Gln)	KSR1 (R150Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613225	NM_001394583.1(KSR1):c.872C>T (p.Pro291Leu)	KSR1 (P291L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296029	NM_001394583.1(KSR1):c.872C>A (p.Pro291Gln)	KSR1 (P154Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593232	NM_001394583.1(KSR1):c.881G>A (p.Arg294His)	KSR1 (R294H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289785	NM_001394583.1(KSR1):c.923G>A (p.Arg308Gln)	KSR1 (R171Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538572	NM_001394583.1(KSR1):c.958A>C (p.Ile320Leu)	KSR1 (I320L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468170	NM_001394583.1(KSR1):c.1027G>A (p.Gly343Arg)	KSR1 (G206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229411	NM_001394583.1(KSR1):c.1258G>A (p.Glu420Lys)	KSR1 (E84K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364145	NM_001394583.1(KSR1):c.1325T>C (p.Leu442Pro)	KSR1 (L106P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218840	NM_001394583.1(KSR1):c.1379C>T (p.Ala460Val)	KSR1 (A460V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117178	NM_001394583.1(KSR1):c.1538C>T (p.Pro513Leu)	KSR1 (P398L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616729	NM_001394583.1(KSR1):c.1540C>G (p.Leu514Val)	KSR1 (L178V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117179	NM_001394583.1(KSR1):c.1543C>T (p.Pro515Ser)	KSR1 (P515S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396502	NM_001394583.1(KSR1):c.1570G>A (p.Asp524Asn)	KSR1 (D188N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348185	NM_001394583.1(KSR1):c.1580C>T (p.Pro527Leu)	KSR1 (P177L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289783	NM_001394583.1(KSR1):c.1630G>T (p.Ala544Ser)	KSR1 (A544S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268375	NM_001394583.1(KSR1):c.1672G>A (p.Asp558Asn)	KSR1 (D222N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220956	NM_001394583.1(KSR1):c.1700G>A (p.Arg567Gln)	KSR1 (R567Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117180	NM_001394583.1(KSR1):c.1753G>A (p.Asp585Asn)	KSR1 (D585N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462471	NM_001394583.1(KSR1):c.1792G>A (p.Gly598Arg)	KSR1 (G262R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489812	NM_001394583.1(KSR1):c.1867G>A (p.Gly623Ser)	KSR1 (G273S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117181	NM_001394583.1(KSR1):c.2017C>T (p.His673Tyr)	KSR1 (H558Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359788	NM_001394583.1(KSR1):c.2149G>A (p.Val717Ile)	KSR1 (V367I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117182	NM_001394583.1(KSR1):c.2188G>A (p.Gly730Arg)	KSR1 (G380R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487049	NM_001394583.1(KSR1):c.2235C>G (p.Asn745Lys)	KSR1 (N395K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604210	NM_001394583.1(KSR1):c.2245C>G (p.Leu749Val)	KSR1 (L413V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212216	NM_001394583.1(KSR1):c.2297C>A (p.Thr766Asn)	KSR1 (T766N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319684	NM_001394583.1(KSR1):c.2455C>T (p.Arg819Cys)	KSR1 (R469C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456208	NM_001394583.1(KSR1):c.2456G>A (p.Arg819His)	KSR1 (R483H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462057	NM_001394583.1(KSR1):c.2521G>A (p.Asp841Asn)	KSR1 (D505N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236843	NM_001394583.1(KSR1):c.2579A>G (p.Lys860Arg)	KSR1 (K510R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 42