ClinVar for MedGen (Select 410021) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241963	NM_031433.4(MFRP):c.602G>T (p.Arg201Leu)	C1QTNF5, MFRP (R201L)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 3241962	NM_031433.4(MFRP):c.1411G>A (p.Val471Met)	C1QTNF5, MFRP (V471M)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 3241961	NM_031433.4(MFRP):c.1486G>A (p.Glu496Lys)	C1QTNF5, MFRP (E496K)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 3020678	NM_031433.4(MFRP):c.158-11C>G	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 3016573	NM_031433.4(MFRP):c.1362C>G (p.Cys454Trp)	C1QTNF5, MFRP (C454W)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 3009599	NM_031433.4(MFRP):c.1387+14C>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 3002397	NM_031433.4(MFRP):c.898+7G>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2996724	NM_031433.4(MFRP):c.843T>G (p.Gly281=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2955648	NM_031433.4(MFRP):c.1140G>A (p.Glu380=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2919760	NM_031433.4(MFRP):c.641+17C>G	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2916689	NM_031433.4(MFRP):c.271+12G>A	MFRP, C1QTNF5	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2907420	NM_031433.4(MFRP):c.577_578del (p.Ser193fs)	C1QTNF5, MFRP (S193fs)	Microsatellite (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2900620	NM_031433.4(MFRP):c.429C>T (p.Thr143=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2894904	NM_031433.4(MFRP):c.717C>T (p.Ser239=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2883218	NM_031433.4(MFRP):c.666C>T (p.Pro222=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2860635	NM_031433.4(MFRP):c.465C>A (p.Phe155Leu)	C1QTNF5, MFRP (F155L)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2855155	NM_031433.4(MFRP):c.642-18del	C1QTNF5, MFRP	Deletion (intron variant)	Isolated microphthalmia 5	GBenign
Select item 2830033	NM_031433.4(MFRP):c.271+19C>T	MFRP, C1QTNF5	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2829608	NM_031433.4(MFRP):c.976-4C>G	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2827437	NM_031433.4(MFRP):c.348C>G (p.Thr116=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2818349	NM_031433.4(MFRP):c.499_500dup (p.Asn167fs)	C1QTNF5, MFRP (N167fs)	Duplication (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2812638	NM_031433.4(MFRP):c.513G>A (p.Val171=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2809456	NM_031433.4(MFRP):c.321C>G (p.Ala107=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2809074	NM_031433.4(MFRP):c.1044G>A (p.Leu348=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2789013	NM_031433.4(MFRP):c.696G>C (p.Leu232=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2784228	NM_031433.4(MFRP):c.272-18C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2780867	NM_031433.4(MFRP):c.909dup (p.Asn304fs)	C1QTNF5, MFRP (N304fs)	Duplication (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2780749	NM_031433.4(MFRP):c.642-20C>G	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2779310	NM_031433.4(MFRP):c.1635G>T (p.Ala545=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2762051	NM_031433.4(MFRP):c.772+11T>C	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2732383	NM_031433.4(MFRP):c.630C>T (p.Gly210=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2724828	NM_031433.4(MFRP):c.1124+1G>A	C1QTNF5, MFRP	Single nucleotide variant (splice donor variant)	Isolated microphthalmia 5	GPathogenic
Select item 2724419	NM_031433.4(MFRP):c.657G>T (p.Val219=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2706696	NM_031433.4(MFRP):c.1506_1507del (p.Ser502fs)	C1QTNF5, MFRP (S502fs)	Deletion (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2705391	NM_031433.4(MFRP):c.993C>T (p.Ile331=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2705016	NM_031433.4(MFRP):c.1256-17G>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2704976	NM_031433.4(MFRP):c.1212T>C (p.Ser404=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2642464	NM_031433.4(MFRP):c.1731C>G (p.Ala577=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GLikely benign
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2421232	NM_031433.4(MFRP):c.650G>A (p.Gly217Glu)	C1QTNF5, MFRP (G217E)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2418993	NM_031433.4(MFRP):c.500del (p.Asn167fs)	C1QTNF5, MFRP (N167fs)	Deletion (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2202391	NM_031433.4(MFRP):c.1426G>A (p.Gly476Ser)	C1QTNF5, MFRP (G476S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2200406	NM_031433.4(MFRP):c.297G>A (p.Gly99=)	MFRP, C1QTNF5	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2199670	NM_031433.4(MFRP):c.170G>A (p.Arg57Gln)	MFRP, C1QTNF5 (R57Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2199214	NM_031433.4(MFRP):c.772+15A>G	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2198971	NM_031433.4(MFRP):c.540_541inv (p.Ala181Thr)	C1QTNF5, MFRP (A181T)	Inversion (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2198490	NM_031433.4(MFRP):c.1513A>C (p.Lys505Gln)	C1QTNF5, MFRP (K505Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2194741	NM_031433.4(MFRP):c.1333_1334del (p.Asp445fs)	C1QTNF5, MFRP (D445fs)	Microsatellite (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2193336	NM_031433.4(MFRP):c.840T>C (p.Asp280=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2190946	NM_031433.4(MFRP):c.343A>C (p.Thr115Pro)	C1QTNF5, MFRP (T115P)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2187711	NM_031433.4(MFRP):c.758T>C (p.Met253Thr)	MFRP, C1QTNF5 (M253T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2186013	NM_031433.4(MFRP):c.1124+5A>G	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GUncertain significance
Select item 2181748	NM_031433.4(MFRP):c.862G>A (p.Gly288Ser)	C1QTNF5, MFRP (G288S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2180762	NM_031433.4(MFRP):c.898+20G>T	MFRP, C1QTNF5	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2179160	NM_031433.4(MFRP):c.1144C>T (p.Pro382Ser)	C1QTNF5, MFRP (P382S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2177604	NM_031433.4(MFRP):c.504C>T (p.Thr168=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2171525	NM_031433.4(MFRP):c.661C>A (p.Pro221Thr)	C1QTNF5, MFRP (P221T)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2170309	NM_031433.4(MFRP):c.1515+13G>C	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2167463	NM_031433.4(MFRP):c.956A>C (p.Gln319Pro)	C1QTNF5, MFRP (Q319P)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +1 more	GUncertain significance
Select item 2166391	NM_031433.4(MFRP):c.272-8G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2162933	NM_031433.4(MFRP):c.587C>T (p.Ser196Phe)	C1QTNF5, MFRP (S196F)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2161633	NM_031433.4(MFRP):c.483A>G (p.Pro161=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2160989	NM_031433.4(MFRP):c.558C>T (p.Ile186=)	MFRP, C1QTNF5	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2157980	NM_031433.4(MFRP):c.1132G>A (p.Gly378Arg)	C1QTNF5, MFRP (G378R)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2157647	NM_031433.4(MFRP):c.1015A>G (p.Ile339Val)	C1QTNF5, MFRP (I339V)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2157488	NM_031433.4(MFRP):c.342C>T (p.Thr114=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2156091	NM_031433.4(MFRP):c.364T>C (p.Ser122Pro)	C1QTNF5, MFRP (S122P)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2156088	NM_031433.4(MFRP):c.1634C>T (p.Ala545Val)	C1QTNF5, MFRP (A545V)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2152209	NM_031433.4(MFRP):c.1150del (p.His384fs)	C1QTNF5, MFRP (H384fs)	Deletion (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GPathogenic
Select item 2149840	NM_031433.4(MFRP):c.353C>T (p.Thr118Ile)	C1QTNF5, MFRP (T118I)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2145698	NM_031433.4(MFRP):c.1256-18T>C	MFRP, C1QTNF5	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2145251	NM_031433.4(MFRP):c.492_493delinsTG (p.Pro165Ala)	C1QTNF5, MFRP (P165A)	Indel (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2142334	NM_031433.4(MFRP):c.641+8C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2140286	NM_031433.4(MFRP):c.851A>G (p.Asn284Ser)	MFRP, C1QTNF5 (N284S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2140034	NM_031433.4(MFRP):c.663C>T (p.Pro221=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2134560	NM_031433.4(MFRP):c.842G>C (p.Gly281Ala)	C1QTNF5, MFRP (G281A)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2134476	NM_031433.4(MFRP):c.997G>A (p.Val333Met)	C1QTNF5, MFRP (V333M)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2134124	NM_031433.4(MFRP):c.1484A>C (p.Glu495Ala)	MFRP, C1QTNF5 (E495A)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2132344	NM_031433.4(MFRP):c.54+9C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2132179	NM_031433.4(MFRP):c.921C>G (p.Gly307=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2130574	NM_031433.4(MFRP):c.231C>A (p.Leu77=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2129235	NM_031433.4(MFRP):c.1427G>C (p.Gly476Ala)	C1QTNF5, MFRP (G476A)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2126390	NM_031433.4(MFRP):c.960G>A (p.Gln320=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2123628	NM_031433.4(MFRP):c.237G>A (p.Leu79=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2123550	NM_031433.4(MFRP):c.622C>G (p.Pro208Ala)	C1QTNF5, MFRP (P208A)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2123442	NM_031433.4(MFRP):c.204C>G (p.Leu68=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2120977	NM_031433.4(MFRP):c.1738T>C (p.Ter580Arg)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2118509	NM_031433.4(MFRP):c.1107C>T (p.Ala369=)	MFRP, C1QTNF5	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2114245	NM_031433.4(MFRP):c.642-20C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2109830	NM_031433.4(MFRP):c.9C>T (p.Asp3=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2109406	NM_031433.4(MFRP):c.1226C>A (p.Ala409Asp)	C1QTNF5, MFRP (A409D)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2108409	NM_031433.4(MFRP):c.194T>C (p.Phe65Ser)	C1QTNF5, MFRP (F65S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2104334	NM_031433.4(MFRP):c.1458C>G (p.Asn486Lys)	C1QTNF5, MFRP (N486K)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2104304	NM_031433.4(MFRP):c.255G>T (p.Val85=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely benign
Select item 2104298	NM_031433.4(MFRP):c.47C>T (p.Ser16Leu)	C1QTNF5, MFRP (S16L)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2102929	NM_031433.4(MFRP):c.443T>G (p.Leu148Arg)	C1QTNF5, MFRP (L148R)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2101657	NM_031433.4(MFRP):c.1061G>A (p.Cys354Tyr)	C1QTNF5, MFRP (C354Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance
Select item 2100561	NM_031433.4(MFRP):c.898+7G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2093432	NM_031433.4(MFRP):c.898+17G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 5	GLikely benign
Select item 2088885	NM_031433.4(MFRP):c.279G>C (p.Gln93His)	C1QTNF5, MFRP (Q93H)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GUncertain significance

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