Related gene-specific medical variations for Gene (Select 114897) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135738	NM_030968.5(C1QTNF1):c.298G>A (p.Glu100Lys)	C1QTNF1, LOC126862658 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531947	NM_030968.5(C1QTNF1):c.427A>G (p.Ser143Gly)	C1QTNF1, LOC126862658 (S143G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479292	NM_030968.5(C1QTNF1):c.310C>G (p.Arg104Gly)	C1QTNF1, LOC126862658 (R22G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406900	NM_030968.5(C1QTNF1):c.482A>G (p.Tyr161Cys)	C1QTNF1, LOC126862658 (Y79C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381413	NM_030968.5(C1QTNF1):c.569C>G (p.Pro190Arg)	C1QTNF1, LOC126862658 (P190R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355028	NM_030968.5(C1QTNF1):c.311G>A (p.Arg104His)	C1QTNF1, LOC126862658 (R22H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338502	NM_030968.5(C1QTNF1):c.374C>T (p.Thr125Ile)	C1QTNF1, LOC126862658 (T43I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247090	NM_030968.5(C1QTNF1):c.520C>G (p.Leu174Val)	C1QTNF1, LOC126862658 (L174V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233776	NM_030968.5(C1QTNF1):c.491C>T (p.Thr164Met)	C1QTNF1, LOC126862658 (T164M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232787	NM_030968.5(C1QTNF1):c.256G>C (p.Ala86Pro)	C1QTNF1, LOC126862658 (A4P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225688	NM_030968.5(C1QTNF1):c.262G>A (p.Ala88Thr)	C1QTNF1, LOC126862658 (A88T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781391	NM_030968.5(C1QTNF1):c.435C>T (p.Tyr145=)	C1QTNF1, LOC126862658	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 729868	NM_030968.5(C1QTNF1):c.501C>T (p.Phe167=)	C1QTNF1, LOC126862658	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign