Related gene-specific medical variations for Gene (Select 93627) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034702	NM_001142416.2(AIMP1):c.-34C>T	AIMP1, LOC129992924 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIMP1-related condition	GLikely benign
Select item 2503409	NM_001163435.3(TBCK):c.1860+2T>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 2501160	NM_004757.4(AIMP1):c.-26+204A>G	AIMP1, LOC129992924 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2436979	NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)	TBCK (P297A +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2436978	NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)	TBCK (K289E +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 2436977	NM_001163435.3(TBCK):c.193+2dup	TBCK	Duplication (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 1808184	GRCh37/hg19 4q24(chr4:107110278-107170680)x1	TBCK	Copy number loss	not provided	GUncertain significance
Select item 1325174	NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter)	TBCK (L248* +3 more)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 1272300	NM_033115.4(TBCK):c.-337G>A	TBCK, AIMP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243501	NM_004757.4(AIMP1):c.-39C>T	AIMP1, TBCK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 977748	NC_000004.12:g.106168703_106217941del	TBCK	Deletion	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GPathogenic
Select item 974885	NM_001163435.3(TBCK):c.1170+1G>A	TBCK	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 814594	GRCh37/hg19 4q24(chr4:107028802-107186200)x1	TBCK	Copy number loss	not provided	GUncertain significance
Select item 811423	NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys)	TBCK (R269K +3 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GUncertain significance
Select item 809652	NM_001142416.2(AIMP1):c.-70G>C	AIMP1, LOC129992924 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 804443	NM_001163435.3(TBCK):c.1854del (p.Pro619fs)	TBCK (P580fs +3 more)	Deletion (frameshift variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	GLikely pathogenic
Select item 686259	GRCh37/hg19 4q24(chr4:106989610-107101268)x1	TBCK	Copy number loss	not provided	GPathogenic
Select item 685817	GRCh37/hg19 4q24(chr4:107110401-107170995)x1	TBCK	Copy number loss	not provided	GPathogenic
Select item 685167	GRCh37/hg19 4q24(chr4:106989610-107101268)x1	TBCK	Copy number loss	not provided	GPathogenic
Select item 446005	NM_001163435.3(TBCK):c.1220+1G>A	TBCK	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 395127	GRCh37/hg19 4q24(chr4:107039642-107209720)x3	TBCK	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 21