isopentenyl 5-chloropentanoate - ClinVar - NCBI

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Items: 13

The following term was not found in ClinVar: chloropentanoate.
Showing results for Isopentyl 5-chloropentanoate. Search instead for Isopentyl 5-chloropentanoate (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285256	NM_033261.3(IDI2):c.650C>T (p.Pro217Leu)	GTPBP4, IDI2 (P217L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257379	NM_033261.3(IDI2):c.627G>T (p.Trp209Cys)	GTPBP4, IDI2 (W209C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108042	NM_033261.3(IDI2):c.620G>A (p.Arg207Gln)	GTPBP4, IDI2 (R207Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2252287	NM_033261.3(IDI2):c.609G>T (p.Arg203Ser)	GTPBP4, IDI2 (R203S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266803	NM_033261.3(IDI2):c.599T>C (p.Ile200Thr)	GTPBP4, IDI2 (I200T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321611	NM_033261.3(IDI2):c.555G>C (p.Arg185Ser)	GTPBP4, IDI2 (R185S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2477416	NM_033261.3(IDI2):c.479C>T (p.Thr160Ile)	GTPBP4, IDI2 (T160I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108041	NM_033261.3(IDI2):c.410A>T (p.Lys137Met)	GTPBP4, IDI2 (K137M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2373975	NM_004508.4(IDI1):c.725A>C (p.Lys242Thr)	IDI1, IDI2-AS1 (K156T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218986	NM_004508.4(IDI1):c.700G>A (p.Glu234Lys)	IDI1, IDI2-AS1 (E178K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108035	NM_004508.4(IDI1):c.656A>C (p.Asn219Thr)	IDI1, IDI2-AS1 (N133T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367944	NM_004508.4(IDI1):c.569G>T (p.Arg190Leu)	IDI1, IDI2-AS1 (R104L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 202235	GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3	IDI2, KLF6 +13 more	Copy number gain	See cases	GPathogenic