ClinVar for MedGen (Select 344198) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359137	NM_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser)	C1QTNF5 (G48S)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance
Select item 3336681	NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr)	C1QTNF5, MFRP (C145Y)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance
Select item 3064544	NM_001278431.2(C1QTNF5):c.613G>C (p.Val205Leu)	C1QTNF5, MFRP (V205L)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GLikely benign
Select item 1687105	NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)	C1QTNF5, MFRP (P188T)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GPathogenic
Select item 880509	NM_001278431.2(C1QTNF5):c.212C>A (p.Pro71Gln)	C1QTNF5, MFRP (P71Q)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 879784	NM_031433.4(MFRP):c.1388-11C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 879733	NM_031433.4(MFRP):c.*234C>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 879561	NM_031433.4(MFRP):c.477C>G (p.Asn159Lys)	C1QTNF5, MFRP (N159K)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 879401	NM_031433.4(MFRP):c.1611T>A (p.Pro537=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 879363	NM_031433.4(MFRP):c.*496G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 879321	NM_001278431.2(C1QTNF5):c.236A>G (p.Asp79Gly)	C1QTNF5, MFRP (D79G)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 879282	NM_001278431.2(C1QTNF5):c.*211C>A	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 879281	NM_001278431.2(C1QTNF5):c.*236C>T	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 878822	NM_031433.4(MFRP):c.*39T>C	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 878771	NM_001278431.2(C1QTNF5):c.-48G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 878728	NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Late-onset retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 878051	NM_031433.4(MFRP):c.779G>C (p.Cys260Ser)	MFRP, C1QTNF5 (C260S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 878002	NM_031433.4(MFRP):c.1071C>T (p.Asp357=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 878001	NM_031433.4(MFRP):c.1257C>A (p.Asn419Lys)	C1QTNF5, MFRP (N419K)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 877887	NM_031433.4(MFRP):c.898+5G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5 +1 more	GConflicting classifications of pathogenicity
Select item 877778	NM_031433.4(MFRP):c.*116C>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 877700	NM_001278431.2(C1QTNF5):c.*1T>C	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 877119	NM_031433.4(MFRP):c.309C>G (p.Ser103Arg)	C1QTNF5, MFRP (S103R)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 877118	NM_031433.4(MFRP):c.321C>T (p.Ala107=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GConflicting classifications of pathogenicity
Select item 877117	NM_031433.4(MFRP):c.342C>G (p.Thr114=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 852164	NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys)	C1QTNF5, MFRP (N131K)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 813997	NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)	C1QTNF5, MFRP (K187N)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GUncertain significance
Select item 813996	NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)	C1QTNF5, MFRP (P188A)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration	GLikely pathogenic
Select item 812376	NM_000929.3(PLA2G5):c.280dup (p.Val94fs)	PLA2G5 (V94fs)	Duplication (frameshift variant)	Late-onset retinal degeneration	GPathogenic
Select item 771589	NM_031433.4(MFRP):c.669G>A (p.Thr223=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +1 more	GBenign/Likely benign
Select item 302984	NM_031433.4(MFRP):c.-49G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302981	NM_031433.4(MFRP):c.58G>A (p.Glu20Lys)	C1QTNF5, MFRP (E20K)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302980	NM_031433.4(MFRP):c.63C>A (p.Phe21Leu)	C1QTNF5, MFRP (F21L)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302979	NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)	C1QTNF5, MFRP (R64C)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GUncertain significance
Select item 302977	NM_031433.4(MFRP):c.192C>G (p.Arg64=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GConflicting classifications of pathogenicity
Select item 302975	NM_031433.4(MFRP):c.271+10C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302974	NM_031433.4(MFRP):c.303C>T (p.Ser101=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302973	NM_031433.4(MFRP):c.335C>T (p.Thr112Met)	C1QTNF5, MFRP (T112M)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GUncertain significance
Select item 302972	NM_031433.4(MFRP):c.452C>A (p.Pro151Gln)	C1QTNF5, MFRP (P151Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GUncertain significance
Select item 302971	NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)	C1QTNF5, MFRP (R152S)	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +2 more	GUncertain significance
Select item 302970	NM_031433.4(MFRP):c.496C>G (p.Pro166Ala)	C1QTNF5, MFRP (P166A)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302969	NM_031433.4(MFRP):c.505C>T (p.His169Tyr)	C1QTNF5, MFRP (H169Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302968	NM_031433.4(MFRP):c.583G>A (p.Ala195Thr)	C1QTNF5, MFRP (A195T)	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +2 more	GUncertain significance
Select item 302967	NM_031433.4(MFRP):c.705C>T (p.Phe235=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302966	NM_031433.4(MFRP):c.773-8A>C	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302965	NM_031433.4(MFRP):c.786T>A (p.His262Gln)	C1QTNF5, MFRP (H262Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302964	NM_031433.4(MFRP):c.807G>A (p.Gln269=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302963	NM_031433.4(MFRP):c.861C>T (p.Asp287=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302962	NM_031433.4(MFRP):c.897G>A (p.Ser299=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302961	NM_031433.4(MFRP):c.909G>C (p.Gly303=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302960	NM_031433.4(MFRP):c.941C>A (p.Thr314Asn)	C1QTNF5, MFRP (T314N)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GUncertain significance
Select item 302958	NM_031433.4(MFRP):c.971A>G (p.Gln324Arg)	C1QTNF5, MFRP (Q324R)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +4 more	GUncertain significance
Select item 302957	NM_031433.4(MFRP):c.975+10G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal degeneration +2 more	GUncertain significance
Select item 302956	NM_031433.4(MFRP):c.976-14A>C	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302955	NM_031433.4(MFRP):c.1106C>T (p.Ala369Val)	C1QTNF5, MFRP (A369V)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302954	NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser)	C1QTNF5, MFRP (G456S)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302953	NM_031433.4(MFRP):c.1461C>A (p.Ile487=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302952	NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn)	C1QTNF5, MFRP (I492N)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302951	NM_031433.4(MFRP):c.1506C>T (p.Ser502=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302950	NM_031433.4(MFRP):c.1516-4G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Retinal degeneration +2 more	GUncertain significance
Select item 302949	NM_031433.4(MFRP):c.1560G>C (p.Leu520=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +2 more	GUncertain significance
Select item 302948	NM_031433.4(MFRP):c.*9C>G	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 302947	NM_031433.4(MFRP):c.*61G>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302946	NM_031433.4(MFRP):c.*126G>C	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302945	NM_031433.4(MFRP):c.*178C>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +1 more	GUncertain significance
Select item 302944	NM_031433.4(MFRP):c.*198G>C	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302943	NM_031433.4(MFRP):c.*235G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GBenign/Likely benign
Select item 302942	NM_031433.4(MFRP):c.*316C>G	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +2 more	GUncertain significance
Select item 302941	NM_031433.4(MFRP):c.*483T>C	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302940	NM_031433.4(MFRP):c.*652G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GUncertain significance
Select item 302938	NM_001278431.2(C1QTNF5):c.-165G>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302937	NM_001278431.2(C1QTNF5):c.-68G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302935	NM_001278431.2(C1QTNF5):c.-43-13G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302934	NM_001278431.2(C1QTNF5):c.-32A>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302933	NM_001278431.2(C1QTNF5):c.-2C>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302932	NM_001278431.2(C1QTNF5):c.55C>G (p.Leu19Val)	C1QTNF5, MFRP (L19V)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 302931	NM_001278431.2(C1QTNF5):c.128G>A (p.Ser43Asn)	C1QTNF5, MFRP (S43N)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302930	NM_001278431.2(C1QTNF5):c.214+9G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302929	NM_001278431.2(C1QTNF5):c.244C>A (p.Pro82Thr)	C1QTNF5, MFRP (P82T)	Single nucleotide variant (missense variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 302928	NM_001278431.2(C1QTNF5):c.341G>A (p.Arg114Gln)	C1QTNF5, MFRP (R114Q)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +3 more	GConflicting classifications of pathogenicity
Select item 302927	NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys)	C1QTNF5, MFRP (E132K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 302926	NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile)	C1QTNF5, MFRP (V139I)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +3 more	GUncertain significance
Select item 302925	NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Late-onset retinal degeneration +3 more	GConflicting classifications of pathogenicity
Select item 302924	NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr)	C1QTNF5, MFRP (I215T)	Single nucleotide variant (missense variant +1 more)	Late-onset retinal degeneration +3 more	GUncertain significance
Select item 302923	NM_001278431.2(C1QTNF5):c.*34C>G	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +2 more	GBenign/Likely benign
Select item 302921	NM_001278431.2(C1QTNF5):c.*158C>A	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302920	NM_001278431.2(C1QTNF5):c.*251C>T	MFRP, C1QTNF5	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302919	NM_001278431.2(C1QTNF5):c.*345G>T	MFRP, C1QTNF5	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 288043	NM_031433.4(MFRP):c.796C>T (p.Arg266Cys)	MFRP, C1QTNF5 (R266C)	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +3 more	GUncertain significance
Select item 198271	NM_031433.4(MFRP):c.770G>A (p.Arg257His)	C1QTNF5, MFRP (R257H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 197357	NM_031433.4(MFRP):c.355A>G (p.Ile119Val)	C1QTNF5, MFRP (I119V)	Single nucleotide variant (5 prime UTR variant +1 more)	Nanophthalmos 2 +5 more	GBenign/Likely benign
Select item 196562	NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)	C1QTNF5, MFRP (R54G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 194544	NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=)	C1QTNF5, MFRP	Single nucleotide variant (synonymous variant +1 more)	Isolated microphthalmia 5 +3 more	GConflicting classifications of pathogenicity
Select item 167294	NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)	C1QTNF5, MFRP (S338R)	Single nucleotide variant (5 prime UTR variant +1 more)	Late-onset retinal degeneration +3 more	GConflicting classifications of pathogenicity
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

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Items: 95