Related gene-specific medical variations for Gene (Select 83696) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065432	NM_001160372.4(TRAPPC9):c.2074C>A (p.Pro692Thr)	TRAPPC9 (P644T +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 3064674	NM_001160372.4(TRAPPC9):c.700C>T (p.Arg234Cys)	TRAPPC9 (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 3064394	NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)	TRAPPC9 (E793fs +3 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 13	GPathogenic
Select item 3025067	NM_001160372.4(TRAPPC9):c.2811-22128T>G	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025066	NM_001160372.4(TRAPPC9):c.2811-22080T>A	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025065	NM_001160372.4(TRAPPC9):c.2811-22051C>T	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025064	NM_001160372.4(TRAPPC9):c.2811-21986T>C	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025063	NM_001160372.4(TRAPPC9):c.2811-21985G>A	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2684555	GRCh37/hg19 8q24.3(chr8:141286570-141517458)x3	TRAPPC9	Copy number gain	not provided	GUncertain significance
Select item 2658858	NM_001160372.4(TRAPPC9):c.2557-71762G>A	PEG13, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2658857	NM_001160372.4(TRAPPC9):c.2557-70820G>A	PEG13, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2584660	NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)	TRAPPC9 (G267R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 2584659	NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)	TRAPPC9 (Q677* +3 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 13	GLikely pathogenic
Select item 2582329	NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)	TRAPPC9 (I34S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 2580092	NM_001160372.4(TRAPPC9):c.-11+6T>G	LOC130001256, TRAPPC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2579055	NM_001160372.4(TRAPPC9):c.2557-75059C>G	PEG13, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2571322	NM_001160372.4(TRAPPC9):c.2557-74608G>A	PEG13, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2571321	NM_001160372.4(TRAPPC9):c.2557-70923A>G	PEG13, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2499081	NM_001160372.4(TRAPPC9):c.2557-73221G>A	PEG13, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2437258	NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)	TRAPPC9 (S42G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 2437257	NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)	TRAPPC9 (E641D +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 2437256	NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)	TRAPPC9 (S873R +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 2428611	NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)	TRAPPC9 (Q451H +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 1527469	GRCh37/hg19 8q24.3(chr8:141286569-141519946)	TRAPPC9	Copy number gain	not specified	GUncertain significance
Select item 1527468	GRCh37/hg19 8q24.3(chr8:141016802-141446902)	TRAPPC9	Copy number gain	not specified	GUncertain significance
Select item 1527467	GRCh37/hg19 8q24.3(chr8:141016802-141086121)	TRAPPC9	Copy number loss	not specified	GUncertain significance
Select item 1340779	GRCh37/hg19 8q24.3(chr8:141320475-141375391)x1	TRAPPC9	Copy number loss	not provided	GUncertain significance
Select item 1184890	NM_001160372.4(TRAPPC9):c.2432-1G>A	TRAPPC9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 980334	GRCh37/hg19 8q24.3(chr8:141016802-141446313)x3	TRAPPC9	Copy number gain	not provided	GUncertain significance
Select item 980332	GRCh37/hg19 8q24.3(chr8:141255310-141355635)x1	TRAPPC9	Copy number loss	not provided	GUncertain significance
Select item 978194	NM_001160372.4(TRAPPC9):c.19A>G (p.Met7Val)	TRAPPC9 (M7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975626	NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter)	TRAPPC9 (R889* +3 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	GPathogenic
Select item 688310	GRCh37/hg19 8q24.3(chr8:141270416-141289943)x1	TRAPPC9	Copy number loss	not provided	GPathogenic
Select item 563432	GRCh37/hg19 8q24.3(chr8:141093504-141180233)x1	TRAPPC9	Copy number loss	not provided	GLikely benign
Select item 545511	NM_001160372.4(TRAPPC9):c.2122dup (p.His708fs)	TRAPPC9 (H708fs +3 more)	Duplication (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 545510	NM_001160372.4(TRAPPC9):c.3055+1G>A	TRAPPC9	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 545354	NC_000008.11:g.(?_140417391)_(140444832_?)del	TRAPPC9	Deletion	Schizophrenia	GLikely pathogenic

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Items: 37