KSR1[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152246	GRCh38/hg38 17q11.1-11.2(chr17:26964783-27583227)x3	LOC130060510, LOC130060511 +30 more	Copy number gain	See cases	GLikely benign
Select item 154626	GRCh38/hg38 17q11.1-11.2(chr17:27016149-27527964)x3	KSR1, LOC105371703 +28 more	Copy number gain	See cases	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 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 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
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1341051	GRCh37/hg19 17q11.1-11.2(chr17:25761228-26385329)x3	NOS2, NLK +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340451	GRCh37/hg19 17q11.1-11.2(chr17:25439781-26267997)x3	KSR1, LGALS9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564422	GRCh37/hg19 17q11.1-11.2(chr17:25309449-25893476)x3	WSB1, KSR1	Copy number gain	not provided	GUncertain significance
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 442868	GRCh37/hg19 17q11.1-11.2(chr17:25270397-25874582)x3	KSR1, WSB1	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441603	GRCh37/hg19 17q11.1-11.2(chr17:25270398-26075070)x3	KSR1, LGALS9 +1 more	Copy number gain	See cases	GLikely benign
Select item 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 55