KYAT3[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 2256654	NM_001008661.3(KYAT3):c.803T>C (p.Met268Thr)	KYAT3 (M234T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260031	NM_001008661.3(KYAT3):c.709A>G (p.Ile237Val)	KYAT3 (I203V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253539	NM_001008661.3(KYAT3):c.335A>G (p.Tyr112Cys)	KYAT3 (Y112C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2341988	NM_001162536.3(RBMXL1):c.1150G>A (p.Gly384Arg)	RBMXL1, KYAT3 (G384R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522783	NM_001162536.3(RBMXL1):c.1145A>G (p.Asp382Gly)	KYAT3, RBMXL1 (D382G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412225	NM_001162536.3(RBMXL1):c.1103G>A (p.Arg368His)	KYAT3, RBMXL1 (R368H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252176	NM_001162536.3(RBMXL1):c.1049C>G (p.Pro350Arg)	RBMXL1, KYAT3 (P350R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363710	NM_001162536.3(RBMXL1):c.989G>A (p.Ser330Asn)	RBMXL1, KYAT3 (S330N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259376	NM_001162536.3(RBMXL1):c.956G>C (p.Gly319Ala)	KYAT3, RBMXL1 (G319A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371302	NM_001162536.3(RBMXL1):c.944G>T (p.Ser315Ile)	RBMXL1, KYAT3 (S315I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328906	NM_001162536.3(RBMXL1):c.860G>A (p.Ser287Asn)	RBMXL1, KYAT3 (S287N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602043	NM_001162536.3(RBMXL1):c.716G>T (p.Arg239Leu)	KYAT3, RBMXL1 (R239L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508206	NM_001162536.3(RBMXL1):c.716G>A (p.Arg239Gln)	KYAT3, RBMXL1 (R239Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264102	NM_001162536.3(RBMXL1):c.692C>T (p.Thr231Ile)	KYAT3, RBMXL1 (T231I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326753	NM_001162536.3(RBMXL1):c.680G>A (p.Ser227Asn)	KYAT3, RBMXL1 (S227N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475364	NM_001162536.3(RBMXL1):c.655A>G (p.Ser219Gly)	KYAT3, RBMXL1 (S219G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530695	NM_001162536.3(RBMXL1):c.553C>G (p.Arg185Gly)	KYAT3, RBMXL1 (R185G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319155	NM_001162536.3(RBMXL1):c.553C>T (p.Arg185Cys)	KYAT3, RBMXL1 (R185C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235275	NM_001162536.3(RBMXL1):c.484C>G (p.Pro162Ala)	KYAT3, RBMXL1 (P162A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243749	NM_001162536.3(RBMXL1):c.436C>G (p.Pro146Ala)	RBMXL1, KYAT3 (P146A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519873	NM_001162536.3(RBMXL1):c.283G>A (p.Gly95Arg)	KYAT3, RBMXL1 (G95R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380839	NM_001162536.3(RBMXL1):c.208A>G (p.Asn70Asp)	KYAT3, RBMXL1 (N70D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379797	NM_001162536.3(RBMXL1):c.5T>C (p.Val2Ala)	RBMXL1, KYAT3 (V2A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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

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Items: 35