ClinVar for MedGen (Select 462107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2903248	NM_001195129.2(PRSS56):c.1213C>T (p.Leu405=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2892222	NM_001195129.2(PRSS56):c.170C>T (p.Ala57Val)	PRSS56 (A57V)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GUncertain significance
Select item 2877670	NM_001195129.2(PRSS56):c.1186+20del	PRSS56	Deletion (intron variant)	Isolated microphthalmia 6	GBenign
Select item 2855573	NM_001195129.2(PRSS56):c.896dup (p.Pro299_Arg300insTer)	PRSS56	Duplication (frameshift variant)	Isolated microphthalmia 6	GPathogenic
Select item 2850654	NM_001195129.2(PRSS56):c.1797C>A (p.Pro599=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2847751	NM_001195129.2(PRSS56):c.144C>T (p.Ser48=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2777777	NM_001195129.2(PRSS56):c.13G>A (p.Val5Met)	PRSS56 (V5M)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GBenign
Select item 2767336	NM_001195129.2(PRSS56):c.903G>C (p.Glu301Asp)	PRSS56 (E301D)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2759910	NM_001195129.2(PRSS56):c.108C>T (p.Ala36=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2747248	NM_001195129.2(PRSS56):c.1012+8C>G	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GLikely benign
Select item 2743941	NM_001195129.2(PRSS56):c.1352-16C>A	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GLikely benign
Select item 2724602	NM_001195129.2(PRSS56):c.1187-17T>A	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GLikely benign
Select item 2628024	NM_018942.3(HMX1):c.691_692dup (p.Glu232fs)	HMX1 (E232fs)	Microsatellite (frameshift variant +1 more)	Isolated microphthalmia 6	GPathogenic
Select item 2417431	NM_001195129.2(PRSS56):c.477G>C (p.Thr159=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2202437	NM_001195129.2(PRSS56):c.1175G>C (p.Arg392Pro)	PRSS56 (R393P +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2202398	NM_001195129.2(PRSS56):c.1400G>A (p.Arg467His)	PRSS56 (R467H +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2202062	NM_001195129.2(PRSS56):c.1504G>A (p.Ala502Thr)	PRSS56 (A502T +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2181383	NM_001195129.2(PRSS56):c.1521+3A>G	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2162000	NM_001195129.2(PRSS56):c.54C>T (p.His18=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2147764	NM_001195129.2(PRSS56):c.1657C>T (p.Arg553Trp)	PRSS56 (R553W +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2108469	NM_001195129.2(PRSS56):c.1531G>T (p.Asp511Tyr)	PRSS56 (D511Y +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2103754	NM_001195129.2(PRSS56):c.53A>G (p.His18Arg)	PRSS56 (H18R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2102420	NM_001195129.2(PRSS56):c.501G>A (p.Glu167=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GBenign
Select item 2097858	NM_001195129.2(PRSS56):c.82_84del (p.Pro28del)	PRSS56 (P28del)	Deletion (inframe_deletion)	Isolated microphthalmia 6	GUncertain significance
Select item 2061606	NM_001195129.2(PRSS56):c.1464G>A (p.Gly488=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2052549	NM_001195129.2(PRSS56):c.814G>C (p.Ala272Pro)	PRSS56 (A272P)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2047480	NM_001195129.2(PRSS56):c.1258G>T (p.Gly420Ter)	PRSS56 (G420* +1 more)	Single nucleotide variant (nonsense)	Isolated microphthalmia 6	GPathogenic
Select item 2045966	NM_001195129.2(PRSS56):c.318G>T (p.Val106=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 2044135	NM_001195129.2(PRSS56):c.760G>A (p.Asp254Asn)	PRSS56 (D254N)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 2042390	NM_001195129.2(PRSS56):c.97+18C>T	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GBenign
Select item 2040190	NM_001195129.2(PRSS56):c.1091G>A (p.Arg364Gln)	PRSS56 (R365Q +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GLikely benign
Select item 1916237	NM_001195129.2(PRSS56):c.766T>C (p.Cys256Arg)	PRSS56 (C256R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1915794	NM_001195129.2(PRSS56):c.1429_1443del (p.Glu477_Gln481del)	PRSS56	Deletion (inframe_deletion)	Isolated microphthalmia 6	GUncertain significance
Select item 1715028	NM_001195129.2(PRSS56):c.323G>A (p.Gly108Asp)	PRSS56 (G108D)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1714091	NM_001195129.2(PRSS56):c.1774C>A (p.Pro592Thr)	PRSS56 (P592T +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1612257	NM_001195129.2(PRSS56):c.462T>C (p.Leu154=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 1606230	NM_001195129.2(PRSS56):c.606C>T (p.Ser202=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 1603498	NM_001195129.2(PRSS56):c.123G>A (p.Ala41=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 1600194	NM_001195129.2(PRSS56):c.1693G>T (p.Ala565Ser)	PRSS56 (A565S +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 1569529	NM_001195129.2(PRSS56):c.1262T>G (p.Leu421Arg)	PRSS56 (L421R +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GLikely benign
Select item 1556974	NM_001195129.2(PRSS56):c.1019C>T (p.Ser340Phe)	PRSS56 (S340F +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 1547202	NM_001195129.2(PRSS56):c.1013-12C>T	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GLikely benign
Select item 1450154	NM_001195129.2(PRSS56):c.1573del (p.Val525fs)	PRSS56 (V526fs +1 more)	Deletion (frameshift variant)	Isolated microphthalmia 6	GPathogenic
Select item 1428298	NM_001195129.2(PRSS56):c.733G>A (p.Glu245Lys)	PRSS56 (E245K)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1425821	NM_001195129.2(PRSS56):c.739C>T (p.Arg247Cys)	PRSS56 (R247C)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1422679	NM_001195129.2(PRSS56):c.1798G>A (p.Ala600Thr)	PRSS56 (A600T +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GUncertain significance
Select item 1422211	NM_001195129.2(PRSS56):c.497G>T (p.Gly166Val)	PRSS56 (G166V)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1421148	NM_001195129.2(PRSS56):c.1330C>T (p.Arg444Trp)	PRSS56 (R445W +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1397321	NM_001195129.2(PRSS56):c.259C>G (p.Pro87Ala)	PRSS56 (P87A)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GUncertain significance
Select item 1385526	NM_001195129.2(PRSS56):c.353G>A (p.Trp118Ter)	PRSS56 (W118*)	Single nucleotide variant (nonsense)	Isolated microphthalmia 6	GPathogenic
Select item 1383004	NM_001195129.2(PRSS56):c.1612G>A (p.Gly538Ser)	PRSS56 (G539S +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1368444	NM_001195129.2(PRSS56):c.1060C>G (p.Pro354Ala)	PRSS56 (P354A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1333396	NM_001195129.2(PRSS56):c.1222C>G (p.Leu408Val)	PRSS56 (L408V +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1333280	NM_001195129.2(PRSS56):c.219del (p.Arg74fs)	PRSS56 (R74fs)	Deletion (frameshift variant)	Isolated microphthalmia 6	GPathogenic
Select item 1327452	NM_001195129.2(PRSS56):c.1254T>G (p.Arg418=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GBenign
Select item 1324965	NM_001195129.2(PRSS56):c.1066del (p.Gln356fs)	PRSS56 (Q356fs +1 more)	Deletion (frameshift variant)	Isolated microphthalmia 6	GPathogenic
Select item 1304588	NM_001195129.2(PRSS56):c.292G>A (p.Val98Met)	PRSS56 (V98M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1281852	NM_001195129.2(PRSS56):c.205+18del	PRSS56	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1272181	NM_001195129.2(PRSS56):c.1419C>T (p.Cys473=)	PRSS56	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1198962	NM_001195129.2(PRSS56):c.1352-14C>G	PRSS56	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1168066	NM_001195129.2(PRSS56):c.256+7T>C	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 1057381	NM_001195129.2(PRSS56):c.1631C>T (p.Pro544Leu)	PRSS56 (P544L +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 1055451	NM_001195129.2(PRSS56):c.1463G>A (p.Gly488Glu)	PRSS56 (G488E +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 936664	NM_001195129.2(PRSS56):c.1396C>A (p.Pro466Thr)	PRSS56 (P466T +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 932138	NM_001195129.2(PRSS56):c.94del (p.Gln32fs)	PRSS56 (Q32fs)	Deletion (frameshift variant)	Isolated microphthalmia 6	GLikely pathogenic
Select item 915448	NM_001195129.2(PRSS56):c.1202C>A (p.Ala401Glu)	PRSS56 (A401E +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GPathogenic
Select item 847105	NM_001195129.2(PRSS56):c.357G>A (p.Leu119=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GUncertain significance
Select item 767012	NM_001195129.2(PRSS56):c.600G>A (p.Pro200=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GBenign
Select item 763027	NM_001195129.2(PRSS56):c.753C>G (p.Leu251=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 733309	NM_001195129.2(PRSS56):c.972C>A (p.Arg324=)	PRSS56	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 6	GLikely benign
Select item 707588	NM_001195129.2(PRSS56):c.1521+10C>T	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6	GBenign
Select item 707140	NM_001195129.2(PRSS56):c.205+10C>G	PRSS56	Single nucleotide variant (intron variant)	PRSS56-related disorder +2 more	GBenign
Select item 680992	NM_001195129.2(PRSS56):c.205+14C>A	PRSS56	Single nucleotide variant (intron variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 677664	NM_001195129.2(PRSS56):c.1522-8A>G	PRSS56	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 677181	NM_001195129.2(PRSS56):c.1251T>G (p.Pro417=)	PRSS56	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 677180	NM_001195129.2(PRSS56):c.88G>A (p.Ala30Thr)	PRSS56 (A30T)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 538841	NM_001195129.2(PRSS56):c.211G>C (p.Gly71Arg)	PRSS56 (G71R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GBenign
Select item 538840	NM_001195129.2(PRSS56):c.145G>A (p.Ala49Thr)	PRSS56 (A49T)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GUncertain significance
Select item 487220	NM_001195129.2(PRSS56):c.1449G>T (p.Leu483Phe)	PRSS56 (L483F +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GUncertain significance
Select item 314228	NM_182894.3(VSX2):c.1548_1549del	VSX2	Deletion (3 prime UTR variant)	VSX2-related Microphthalmia +1 more	GLikely benign
Select item 314223	NM_182894.3(VSX2):c.*1347G>A	VSX2	Single nucleotide variant (3 prime UTR variant)	VSX2-related Microphthalmia +1 more	GUncertain significance
Select item 314200	NM_182894.3(VSX2):c.863G>A (p.Arg288Gln)	VSX2 (R288Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 314191	NM_182894.3(VSX2):c.-43dup	VSX2	Duplication (5 prime UTR variant)	VSX2-related Microphthalmia +1 more	GUncertain significance
Select item 302988	NM_031433.4(MFRP):c.-108G>A	MFRP, C1QTNF5	Single nucleotide variant (5 prime UTR variant)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302987	NM_031433.4(MFRP):c.-88C>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant)	Retinal degeneration +2 more	GBenign/Likely benign
Select item 302985	NM_031433.4(MFRP):c.-57C>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant)	Retinal degeneration +1 more	GUncertain significance
Select item 302982	NM_031433.4(MFRP):c.-31G>A	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant)	Retinal degeneration +1 more	GLikely benign
Select item 302978	NM_031433.4(MFRP):c.191G>A (p.Arg64His)	C1QTNF5, MFRP (R64H)	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 302976	NM_031433.4(MFRP):c.195C>T (p.Phe65=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 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)	Isolated microphthalmia 5 +2 more	GConflicting classifications of pathogenicity
Select item 302971	NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)	C1QTNF5, MFRP (R152S)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +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)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302959	NM_031433.4(MFRP):c.954G>A (p.Leu318=)	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal degeneration +3 more	GBenign/Likely benign
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 302942	NM_031433.4(MFRP):c.*316C>G	MFRP, C1QTNF5	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5 +2 more	GUncertain significance
Select item 302936	NM_001278431.2(C1QTNF5):c.-48G>C	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 6 +1 more	GConflicting classifications of pathogenicity
Select item 302933	NM_001278431.2(C1QTNF5):c.-2C>T	C1QTNF5, MFRP	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 6 +2 more	GUncertain significance
Select item 302922	NM_001278431.2(C1QTNF5):c.*62A>T	C1QTNF5, MFRP	Single nucleotide variant (3 prime UTR variant)	Isolated microphthalmia 6 +1 more	GLikely benign
Select item 261962	NM_031433.4(MFRP):c.1387+3G>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 198596	NM_031433.4(MFRP):c.773-9C>T	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Isolated microphthalmia 6 +3 more	GConflicting classifications of pathogenicity

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