"Blueprint Genetics"[submitter] AND "MFRP"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866790	NM_001278431.2(C1QTNF5):c.628G>C (p.Gly210Arg)	C1QTNF5, MFRP (G210R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866088	NM_001278431.2(C1QTNF5):c.586A>G (p.Met196Val)	C1QTNF5, MFRP (M196V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865827	NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu)	C1QTNF5, MFRP (P188L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 867128	NM_001278431.2(C1QTNF5):c.545T>C (p.Phe182Ser)	C1QTNF5, MFRP (F182S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865771	NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg)	C1QTNF5, MFRP (S163R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2126	NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	C1QTNF5, MFRP (S163R)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +2 more	GPathogenic/Likely pathogenic
Select item 866783	NM_001278431.2(C1QTNF5):c.96C>G (p.Pro32=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865857	NM_015645.5(C1QTNF5):c.-1121-5C>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 867184	NM_031433.4(MFRP):c.1235T>C (p.Leu412Pro)	C1QTNF5, MFRP (L412P)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 631652	NM_031433.4(MFRP):c.1124+1G>T	C1QTNF5, MFRP	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866632	NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)	C1QTNF5, MFRP (C285*)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GPathogenic/Likely pathogenic