"Ambry Genetics"[submitter] AND "IQCF5"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2459108	NM_001145059.2(IQCF5):c.378A>T (p.Gln126His)	IQCF5, IQCF5-AS1 (Q126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357444	NM_001145059.2(IQCF5):c.350A>G (p.Glu117Gly)	IQCF5-AS1, IQCF5 (E117G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470428	NM_001145059.2(IQCF5):c.256C>T (p.Arg86Cys)	IQCF5, IQCF5-AS1 (R86C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524944	NM_001145059.2(IQCF5):c.251G>A (p.Arg84His)	IQCF5, IQCF5-AS1 (R84H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346307	NM_001145059.2(IQCF5):c.191A>G (p.Tyr64Cys)	IQCF5, IQCF5-AS1 (Y64C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603783	NM_001145059.2(IQCF5):c.118A>G (p.Ile40Val)	IQCF5, IQCF5-AS1 (I40V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519175	NM_001145059.2(IQCF5):c.101C>T (p.Ala34Val)	IQCF5, IQCF5-AS1 (A34V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245072	NM_001145059.2(IQCF5):c.88A>C (p.Thr30Pro)	IQCF5, IQCF5-AS1 (T30P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385481	NM_001145059.2(IQCF5):c.85C>G (p.Arg29Gly)	IQCF5-AS1, IQCF5 (R29G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288399	NM_001145059.2(IQCF5):c.83G>A (p.Arg28Gln)	IQCF5, IQCF5-AS1 (R28Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218281	NM_001145059.2(IQCF5):c.83G>T (p.Arg28Leu)	IQCF5, IQCF5-AS1 (R28L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345327	NM_001145059.2(IQCF5):c.66G>T (p.Trp22Cys)	IQCF5-AS1, IQCF5 (W22C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance