Related gene-specific medical variations for Gene (Select 389124) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3110456	NM_001145059.2(IQCF5):c.332T>G (p.Phe111Cys)	IQCF5, IQCF5-AS1 (F111C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110455	NM_001145059.2(IQCF5):c.305G>A (p.Arg102His)	IQCF5, IQCF5-AS1 (R102H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110454	NM_001145059.2(IQCF5):c.277G>A (p.Ala93Thr)	IQCF5, IQCF5-AS1 (A93T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110453	NM_001145059.2(IQCF5):c.166A>G (p.Arg56Gly)	IQCF5, IQCF5-AS1 (R56G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110452	NM_001145059.2(IQCF5):c.146T>C (p.Leu49Pro)	IQCF5, IQCF5-AS1 (L49P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2459108	NM_001145059.2(IQCF5):c.378A>T (p.Gln126His)	IQCF5, IQCF5-AS1 (Q126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385481	NM_001145059.2(IQCF5):c.85C>G (p.Arg29Gly)	IQCF5, IQCF5-AS1 (R29G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357444	NM_001145059.2(IQCF5):c.350A>G (p.Glu117Gly)	IQCF5, IQCF5-AS1 (E117G)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2345327	NM_001145059.2(IQCF5):c.66G>T (p.Trp22Cys)	IQCF5, IQCF5-AS1 (W22C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 691393	NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys)	IQCF5, IQCF5-AS1 (R95C)	Single nucleotide variant (non-coding transcript variant +1 more)	Aganglionic megacolon	GUncertain significance