ClinVar for Gene (Select 8322) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365266	NM_012193.4(FZD4):c.976A>C (p.Thr326Pro)	FZD4, PRSS23 (T326P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3349882	NM_012193.4(FZD4):c.1595G>A (p.Gly532Asp)	FZD4, PRSS23 (G532D)	Single nucleotide variant (missense variant)	FZD4-related disorder	GUncertain significance
Select item 3347902	NM_012193.4(FZD4):c.175A>G (p.Asn59Asp)	FZD4 (N59D)	Single nucleotide variant (missense variant)	FZD4-related disorder	GUncertain significance
Select item 3280294	NM_012193.4(FZD4):c.1060A>T (p.Ile354Phe)	FZD4, PRSS23 (I354F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280292	NM_012193.4(FZD4):c.1417A>C (p.Asn473His)	FZD4, PRSS23 (N473H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244774	NC_000011.9:g.(?_86662184)_(86666127_?)dup	FZD4	Duplication	not provided	GUncertain significance
Select item 3097676	NM_012193.4(FZD4):c.554G>T (p.Gly185Val)	FZD4, PRSS23 (G185V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097675	NM_012193.4(FZD4):c.533G>C (p.Gly178Ala)	FZD4, PRSS23 (G178A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097673	NM_012193.4(FZD4):c.11G>T (p.Arg4Leu)	FZD4, LOC130006561 (R4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047073	NM_012193.4(FZD4):c.1299G>T (p.Leu433=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	FZD4-related disorder	GLikely benign
Select item 3021159	NM_012193.4(FZD4):c.544C>T (p.His182Tyr)	FZD4, PRSS23 (H182Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3012307	NM_012193.4(FZD4):c.475A>C (p.Met159Leu)	FZD4, PRSS23 (M159L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3006957	NM_012193.4(FZD4):c.730G>A (p.Asp244Asn)	FZD4, PRSS23 (D244N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3005293	NM_012193.4(FZD4):c.1320C>G (p.Phe440Leu)	FZD4, PRSS23 (F440L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2968903	NM_012193.4(FZD4):c.1387G>T (p.Ala463Ser)	FZD4, PRSS23 (A463S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961077	NM_012193.4(FZD4):c.1415C>T (p.Ser472Phe)	FZD4, PRSS23 (S472F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2959753	NM_012193.4(FZD4):c.168C>A (p.Leu56=)	FZD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871966	NM_012193.4(FZD4):c.108del (p.Phe37fs)	FZD4 (F37fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2860453	NM_012193.4(FZD4):c.692dup (p.Ile232fs)	FZD4, PRSS23 (I232fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2858425	NM_012193.4(FZD4):c.647del (p.Lys216fs)	FZD4, PRSS23 (K216fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2854377	NM_012193.4(FZD4):c.683G>T (p.Ser228Ile)	FZD4, PRSS23 (S228I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2849983	NM_012193.4(FZD4):c.57C>T (p.Leu19=)	FZD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848482	NM_012193.4(FZD4):c.464A>G (p.Asn155Ser)	FZD4, PRSS23 (N155S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2846323	NM_012193.4(FZD4):c.473G>T (p.Cys158Phe)	FZD4, PRSS23 (C158F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2825848	NM_012193.4(FZD4):c.563C>G (p.Ser188Cys)	FZD4, PRSS23 (S188C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2824335	NM_012193.4(FZD4):c.785ATA[1] (p.Asn263del)	FZD4, PRSS23 (N263del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2823276	NM_012193.4(FZD4):c.879C>A (p.Ile293=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2819066	NM_012193.4(FZD4):c.304T>C (p.Tyr102His)	FZD4, PRSS23 (Y102H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2816856	NM_012193.4(FZD4):c.1423G>A (p.Ala475Thr)	FZD4, PRSS23 (A475T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2816381	NM_012193.4(FZD4):c.156G>A (p.Met52Ile)	FZD4 (M52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816030	NM_012193.4(FZD4):c.989C>G (p.Ala330Gly)	FZD4, PRSS23 (A330G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2815484	NM_012193.4(FZD4):c.1310T>G (p.Ile437Ser)	FZD4, PRSS23 (I437S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2812469	NM_012193.4(FZD4):c.588G>A (p.Arg196=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2811027	NM_012193.4(FZD4):c.1117C>T (p.Leu373=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2809729	NM_012193.4(FZD4):c.608A>G (p.Lys203Arg)	FZD4, PRSS23 (K203R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2808725	NM_012193.4(FZD4):c.1047T>G (p.Ile349Met)	FZD4, PRSS23 (I349M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2808667	NM_012193.4(FZD4):c.204_220del (p.His69fs)	FZD4 (H69fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2800114	NM_012193.4(FZD4):c.1201A>T (p.Ile401Phe)	FZD4, PRSS23 (I401F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2793945	NM_012193.4(FZD4):c.498G>A (p.Glu166=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2792681	NM_012193.4(FZD4):c.332A>G (p.Asn111Ser)	FZD4, PRSS23 (N111S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2791408	NM_012193.4(FZD4):c.1441A>C (p.Ile481Leu)	FZD4, PRSS23 (I481L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2785411	NM_012193.4(FZD4):c.198G>T (p.Leu66=)	FZD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784467	NM_012193.4(FZD4):c.683G>C (p.Ser228Thr)	FZD4, PRSS23 (S228T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2783530	NM_012193.4(FZD4):c.11G>A (p.Arg4Gln)	FZD4, LOC130006561 (R4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771834	NM_012193.4(FZD4):c.1489T>C (p.Ser497Pro)	FZD4, PRSS23 (S497P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2767813	NM_012193.4(FZD4):c.941T>C (p.Met314Thr)	FZD4, PRSS23 (M314T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2763333	NM_012193.4(FZD4):c.1562_1563insCTCT (p.Lys521fs)	FZD4, PRSS23 (K521fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2762482	NM_012193.4(FZD4):c.360del (p.Met120fs)	FZD4, PRSS23 (M120fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2760685	NM_012193.4(FZD4):c.1497_1498del (p.Lys499fs)	FZD4, PRSS23 (K499fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2758634	NM_012193.4(FZD4):c.1499C>G (p.Thr500Ser)	FZD4, PRSS23 (T500S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2746262	NM_012193.4(FZD4):c.7T>C (p.Trp3Arg)	FZD4, LOC130006561 (W3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745256	NM_012193.4(FZD4):c.1469C>T (p.Thr490Ile)	FZD4, PRSS23 (T490I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2745255	NM_012193.4(FZD4):c.1587T>C (p.Pro529=)	FZD4, PRSS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744656	NM_012193.4(FZD4):c.215A>G (p.Gln72Arg)	FZD4 (Q72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735718	NM_012193.4(FZD4):c.268T>C (p.Cys90Arg)	FZD4 (C90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735717	NM_012193.4(FZD4):c.314T>C (p.Met105Thr)	FZD4, PRSS23 (M105T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2735716	NM_012193.4(FZD4):c.316T>G (p.Cys106Gly)	FZD4, PRSS23 (C106G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2735715	NM_012193.4(FZD4):c.1286_1290del (p.Lys429fs)	FZD4, PRSS23 (K429fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2735714	NM_012193.4(FZD4):c.1396C>T (p.Arg466Trp)	FZD4, PRSS23 (R466W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2730480	NM_012193.4(FZD4):c.1511G>A (p.Trp504Ter)	FZD4, PRSS23 (W504*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2721711	NM_012193.4(FZD4):c.25_35del (p.Ser9fs)	FZD4 (S9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2715144	NM_012193.4(FZD4):c.915T>C (p.Ile305=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2714002	NM_012193.4(FZD4):c.1573G>T (p.Gly525Cys)	FZD4, PRSS23 (G525C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713758	NM_012193.4(FZD4):c.1570A>G (p.Asn524Asp)	FZD4, PRSS23 (N524D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701989	NM_012193.4(FZD4):c.546C>A (p.His182Gln)	FZD4, PRSS23 (H182Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2672479	NM_012193.4(FZD4):c.341T>A (p.Ile114Asn)	FZD4, PRSS23 (I114N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2642257	NM_012193.4(FZD4):c.1505A>G (p.His502Arg)	FZD4, PRSS23 (H502R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2596399	NM_012193.4(FZD4):c.197T>A (p.Leu66Gln)	FZD4 (L66Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2573692	NM_012193.4(FZD4):c.1350T>A (p.Cys450Ter)	FZD4, PRSS23 (C450*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2572027	NM_012193.4(FZD4):c.740G>A (p.Arg247Lys)	FZD4, PRSS23 (R247K)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1	GLikely pathogenic
Select item 2495726	NM_012193.4(FZD4):c.809T>G (p.Ile270Ser)	FZD4, PRSS23 (I270S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478249	NM_012193.4(FZD4):c.820A>C (p.Thr274Pro)	FZD4, PRSS23 (T274P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444633	NM_012193.4(FZD4):c.571T>C (p.Tyr191His)	FZD4, PRSS23 (Y191H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2441596	NM_012193.4(FZD4):c.1475G>A (p.Gly492Asp)	FZD4, PRSS23 (G492D)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 2425773	NC_000011.9:g.(?_86662184)_(86666127_?)del	FZD4	Deletion	not provided	GPathogenic
Select item 2418024	NM_012193.4(FZD4):c.1029C>T (p.His343=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2332938	NM_012193.4(FZD4):c.113G>T (p.Gly38Val)	FZD4 (G38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290983	NM_012193.4(FZD4):c.729C>G (p.Ile243Met)	FZD4, PRSS23 (I243M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280244	NM_012193.4(FZD4):c.1420A>G (p.Met474Val)	FZD4, PRSS23 (M474V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2183147	NM_012193.4(FZD4):c.32C>T (p.Pro11Leu)	FZD4 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174974	NM_012193.4(FZD4):c.1579G>T (p.Val527Leu)	FZD4, PRSS23 (V527L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169559	NM_012193.4(FZD4):c.382T>C (p.Cys128Arg)	FZD4, PRSS23 (C128R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2169558	NM_012193.4(FZD4):c.1188_1192del (p.Phe396fs)	FZD4, PRSS23 (F396fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2159501	NM_012193.4(FZD4):c.182C>T (p.Thr61Ile)	FZD4 (T61I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2137216	NM_012193.4(FZD4):c.107G>A (p.Gly36Asp)	FZD4 (G36D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137215	NM_012193.4(FZD4):c.223G>A (p.Ala75Thr)	FZD4 (A75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137213	NM_012193.4(FZD4):c.456C>G (p.Asn152Lys)	FZD4, PRSS23 (N152K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2137212	NM_012193.4(FZD4):c.957del (p.Trp319fs)	FZD4, PRSS23 (W319fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2133760	NM_012193.4(FZD4):c.8G>A (p.Trp3Ter)	FZD4, LOC130006561 (W3*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2132703	NM_012193.4(FZD4):c.599G>A (p.Cys200Tyr)	FZD4, PRSS23 (C200Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2131416	NM_012193.4(FZD4):c.1113T>C (p.Asp371=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2127925	NM_012193.4(FZD4):c.836G>A (p.Arg279Lys)	FZD4, PRSS23 (R279K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2125547	NM_012193.4(FZD4):c.1485T>C (p.Ile495=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2111144	NM_012193.4(FZD4):c.1074A>C (p.Lys358Asn)	FZD4, PRSS23 (K358N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2109614	NM_012193.4(FZD4):c.1077C>A (p.Thr359=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2108764	NM_012193.4(FZD4):c.865G>C (p.Glu289Gln)	FZD4, PRSS23 (E289Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2105426	NM_012193.4(FZD4):c.947G>C (p.Ser316Thr)	FZD4, PRSS23 (S316T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2101988	NM_012193.4(FZD4):c.699C>G (p.Ser233=)	FZD4, PRSS23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2097570	NM_012193.4(FZD4):c.285+13A>C	FZD4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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