ClinVar for Gene (Select 494115) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152511	NM_001162536.3(RBMXL1):c.959A>G (p.Tyr320Cys)	KYAT3, RBMXL1 (Y320C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152510	NM_001162536.3(RBMXL1):c.922A>C (p.Ser308Arg)	KYAT3, RBMXL1 (S308R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152509	NM_001162536.3(RBMXL1):c.669A>C (p.Arg223Ser)	KYAT3, RBMXL1 (R223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152508	NM_001162536.3(RBMXL1):c.632A>G (p.Asp211Gly)	KYAT3, RBMXL1 (D211G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152507	NM_001162536.3(RBMXL1):c.593C>T (p.Pro198Leu)	KYAT3, RBMXL1 (P198L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152506	NM_001162536.3(RBMXL1):c.564T>G (p.Asp188Glu)	KYAT3, RBMXL1 (D188E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152505	NM_001162536.3(RBMXL1):c.538A>G (p.Arg180Gly)	KYAT3, RBMXL1 (R180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152504	NM_001162536.3(RBMXL1):c.484C>T (p.Pro162Ser)	KYAT3, RBMXL1 (P162S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152503	NM_001162536.3(RBMXL1):c.470G>C (p.Ser157Thr)	KYAT3, RBMXL1 (S157T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152500	NM_001162536.3(RBMXL1):c.404C>G (p.Ser135Cys)	KYAT3, RBMXL1 (S135C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2602043	NM_001162536.3(RBMXL1):c.716G>T (p.Arg239Leu)	KYAT3, RBMXL1 (R239L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530695	NM_001162536.3(RBMXL1):c.553C>G (p.Arg185Gly)	KYAT3, RBMXL1 (R185G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522783	NM_001162536.3(RBMXL1):c.1145A>G (p.Asp382Gly)	KYAT3, RBMXL1 (D382G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519873	NM_001162536.3(RBMXL1):c.283G>A (p.Gly95Arg)	KYAT3, RBMXL1 (G95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508206	NM_001162536.3(RBMXL1):c.716G>A (p.Arg239Gln)	RBMXL1, KYAT3 (R239Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475364	NM_001162536.3(RBMXL1):c.655A>G (p.Ser219Gly)	KYAT3, RBMXL1 (S219G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412225	NM_001162536.3(RBMXL1):c.1103G>A (p.Arg368His)	KYAT3, RBMXL1 (R368H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380839	NM_001162536.3(RBMXL1):c.208A>G (p.Asn70Asp)	KYAT3, RBMXL1 (N70D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379797	NM_001162536.3(RBMXL1):c.5T>C (p.Val2Ala)	KYAT3, RBMXL1 (V2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371302	NM_001162536.3(RBMXL1):c.944G>T (p.Ser315Ile)	KYAT3, RBMXL1 (S315I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363710	NM_001162536.3(RBMXL1):c.989G>A (p.Ser330Asn)	KYAT3, RBMXL1 (S330N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341988	NM_001162536.3(RBMXL1):c.1150G>A (p.Gly384Arg)	KYAT3, RBMXL1 (G384R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328906	NM_001162536.3(RBMXL1):c.860G>A (p.Ser287Asn)	KYAT3, RBMXL1 (S287N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326753	NM_001162536.3(RBMXL1):c.680G>A (p.Ser227Asn)	KYAT3, RBMXL1 (S227N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319155	NM_001162536.3(RBMXL1):c.553C>T (p.Arg185Cys)	KYAT3, RBMXL1 (R185C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264102	NM_001162536.3(RBMXL1):c.692C>T (p.Thr231Ile)	KYAT3, RBMXL1 (T231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259376	NM_001162536.3(RBMXL1):c.956G>C (p.Gly319Ala)	KYAT3, RBMXL1 (G319A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252176	NM_001162536.3(RBMXL1):c.1049C>G (p.Pro350Arg)	KYAT3, RBMXL1 (P350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243749	NM_001162536.3(RBMXL1):c.436C>G (p.Pro146Ala)	KYAT3, RBMXL1 (P146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235275	NM_001162536.3(RBMXL1):c.484C>G (p.Pro162Ala)	KYAT3, RBMXL1 (P162A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 814106	GRCh37/hg19 1p22.2(chr1:89018909-89483015)x3	GBP3, PKN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685792	GRCh37/hg19 1p22.2(chr1:89239549-89733747)x3	GBP1, GBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565120	GRCh37/hg19 1p22.2(chr1:88840026-89512154)x3	PKN2, GBP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 42