KSR1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	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 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
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58