"PreventionGenetics, part of Exact Sciences"[submitter] AND "MFRP"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2863167	NM_001278431.2(C1QTNF5):c.648C>T (p.Gly216=)	MFRP, C1QTNF5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 499754	NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs)	C1QTNF5, MFRP (A195fs)	Duplication (frameshift variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 878728	NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Isolated microphthalmia 5 +3 more	GConflicting classifications of pathogenicity
Select item 501981	NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	C1QTNF5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 858834	NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1094703	NM_031433.4(MFRP):c.1497G>A (p.Glu499=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GLikely benign
Select item 3030007	NM_031433.4(MFRP):c.1458C>T (p.Asn486=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	MFRP-related disorder	GLikely benign
Select item 261962	NM_031433.4(MFRP):c.1387+3G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal degeneration +4 more	GBenign/Likely benign
Select item 261961	NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe)	C1QTNF5, MFRP (L458F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 193935	NM_031433.4(MFRP):c.1256-4G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3030018	NM_031433.4(MFRP):c.1164G>T (p.Ser388=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	MFRP-related disorder	GLikely benign
Select item 167294	NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)	C1QTNF5, MFRP (S338R)	Single nucleotide variant (5 prime UTR variant +1 more)	MFRP-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2724419	NM_031433.4(MFRP):c.657G>T (p.Val219=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	MFRP-related disorder +1 more	GLikely benign
Select item 197863	NM_031433.4(MFRP):c.641+9C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5 +3 more	GBenign/Likely benign
Select item 167296	NM_031433.4(MFRP):c.629G>T (p.Gly210Val)	MFRP, C1QTNF5 (G210V)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GConflicting classifications of pathogenicity
Select item 167297	NM_031433.4(MFRP):c.540T>C (p.His180=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 6 +3 more	GBenign/Likely benign
Select item 4476	NM_031433.4(MFRP):c.498del (p.Asn167fs)	C1QTNF5, MFRP (N167fs)	Deletion (5 prime UTR variant +1 more)	Nanophthalmos 2 +2 more	GPathogenic
Select item 302970	NM_031433.4(MFRP):c.496C>G (p.Pro166Ala)	C1QTNF5, MFRP (P166A)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +3 more	GConflicting classifications of pathogenicity
Select item 143157	NM_031433.4(MFRP):c.492C>T (p.Tyr164=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1570288	NM_031433.4(MFRP):c.465C>T (p.Phe155=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GLikely benign
Select item 167299	NM_031433.4(MFRP):c.406G>A (p.Val136Met)	C1QTNF5, MFRP (V136M)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 6 +3 more	GBenign/Likely benign
Select item 196561	NM_031433.4(MFRP):c.159T>C (p.Gly53=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +3 more	GConflicting classifications of pathogenicity
Select item 1147917	NM_031433.4(MFRP):c.158-4G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	MFRP-related disorder +1 more	GLikely benign
Select item 3054929	NM_031433.4(MFRP):c.75C>T (p.Ala25=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	MFRP-related disorder	GLikely benign

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Items: 24