ClinVar for MedGen (Select 400475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066031	NM_031935.3(HMCN1):c.6292C>A (p.Leu2098Ile)	HMCN1 (L2098I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1	GUncertain significance
Select item 2418125	NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)	HMCN1 (K2308N)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2414088	NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)	HMCN1 (R4839Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2413724	NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)	HMCN1 (H5427R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2221648	NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)	HMCN1 (T3822A)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2218921	NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)	HMCN1 (I1976T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2192878	NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)	HMCN1 (A1646T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2190657	NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)	HMCN1 (C5270R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2186377	NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)	HMCN1 (C5298Y)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2185242	NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)	HMCN1 (S481T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2185038	NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)	HMCN1 (A5629G)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2173647	NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)	HMCN1 (R261C)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2170700	NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)	HMCN1 (N1851S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2160506	NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)	HMCN1 (S4647G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2144075	NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)	HMCN1 (T1615I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2139722	NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)	HMCN1 (L4984F)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 2129448	NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)	HMCN1 (G2775E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2086158	NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)	HMCN1 (V335D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2084989	NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)	HMCN1 (P3666S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2078600	NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)	HMCN1 (N2959S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2072048	NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)	HMCN1 (R3390W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2070032	NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)	HMCN1 (P4674L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2057326	NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)	HMCN1 (G4025S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2056641	NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)	HMCN1 (S3257R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2056329	NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)	HMCN1 (R1572Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2055512	NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)	HMCN1 (N4242K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2003241	NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)	HMCN1 (S4357Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1987027	NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)	HMCN1 (Q2860R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1986681	NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)	HMCN1 (M5314T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1984221	NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)	HMCN1 (V2084M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1983512	NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)	HMCN1 (V4847I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1979364	NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)	HMCN1 (V3915I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1978500	NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1973238	NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)	HMCN1 (N2619K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1942251	NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)	HMCN1 (V2245I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1938878	NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)	HMCN1 (T1297S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1935805	NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)	HMCN1 (A5160T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1928933	NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)	HMCN1 (V5231M)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1927897	NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)	HMCN1 (S4710N)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1924986	NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)	HMCN1 (R151Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1923277	NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)	HMCN1 (T2649M)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1920858	NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)	HMCN1 (G3881S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1917081	NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)	HMCN1 (R151W)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1917010	NM_031935.3(HMCN1):c.7426+8T>C	HMCN1	Single nucleotide variant (intron variant)	Age related macular degeneration 1 +1 more	GLikely benign
Select item 1916530	NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)	HMCN1 (H4973L)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1914359	NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)	HMCN1 (T3164M)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1912365	NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)	HMCN1 (I3622M)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1912319	NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)	HMCN1 (P2714A)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1903506	NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)	HMCN1 (R1283H)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1678086	NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)	CFHR1	Deletion (nonsense)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1550843	NM_031935.3(HMCN1):c.14266+19_14266+22del	HMCN1	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 1520333	NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp)	HMCN1 (C4625W)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1505671	NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His)	HMCN1 (Y3053H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1502883	NM_031935.3(HMCN1):c.856G>A (p.Val286Ile)	HMCN1 (V286I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1472780	NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe)	HMCN1 (L756F)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1463853	NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser)	HMCN1 (N3300S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1450506	NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile)	HMCN1 (M1747I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1449491	NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr)	HMCN1 (I2387T)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1436821	NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala)	HMCN1 (T5015A)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1434336	NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp)	HMCN1 (L754W)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1433741	NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys)	HMCN1 (I1849K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1431126	NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe)	HMCN1 (L5538F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1413259	NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)	HMCN1 (I5071R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1408045	NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile)	HMCN1 (T2325I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1406159	NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile)	HMCN1 (T4249I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1404618	NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys)	HMCN1 (E3043K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1404200	NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly)	HMCN1 (A3468G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1400763	NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met)	HMCN1 (V1713M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1397056	NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln)	HMCN1, LOC126805953 (R5509Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1395972	NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys)	HMCN1 (I3744K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1392305	NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg)	HMCN1 (H5156R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1388158	NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe)	HMCN1 (L3145F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1383335	NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys)	HMCN1 (F1631C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1382375	NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His)	HMCN1 (Y5037H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1365469	NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met)	HMCN1 (V1103M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1358605	NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro)	HMCN1 (S634P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1356486	NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met)	HMCN1 (I5433M)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1353902	NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val)	HMCN1 (I2386V)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 1315806	NM_000041.4(APOE):c.688G>A (p.Glu230Lys)	APOE (E230K +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +7 more	GUncertain significance
Select item 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 1183870	NM_031935.3(HMCN1):c.14266+17G>C	HMCN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1163768	NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)	CFHR3 (I219fs +1 more)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 1050432	NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)	HMCN1 (G886R)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GUncertain significance
Select item 876900	NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)	HMCN1 (V5043I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GUncertain significance
Select item 876899	NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)	HMCN1 (R5026W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 876851	NM_031935.3(HMCN1):c.13582+11T>C	HMCN1	Single nucleotide variant (intron variant)	Age related macular degeneration 1 +1 more	GConflicting classifications of pathogenicity
Select item 876794	NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=)	HMCN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876793	NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu)	HMCN1 (P4107L)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GUncertain significance
Select item 876755	NM_031935.3(HMCN1):c.11404+11G>A	HMCN1	Single nucleotide variant (intron variant)	Age related macular degeneration 1 +1 more	GConflicting classifications of pathogenicity
Select item 876754	NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)	HMCN1 (G3685A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 876753	NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val)	HMCN1 (L3671V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 876752	NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)	HMCN1 (R3669Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876698	NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro)	HMCN1 (T3075P)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GUncertain significance
Select item 876657	NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg)	HMCN1 (G2653R)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GUncertain significance
Select item 876656	NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)	HMCN1 (A2652V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876655	NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser)	HMCN1 (R2643S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1	GUncertain significance
Select item 876654	NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)	HMCN1 (T2572A)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GUncertain significance
Select item 876653	NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)	HMCN1 (K2559N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876608	NM_031935.3(HMCN1):c.6701-4G>C	HMCN1	Single nucleotide variant (intron variant)	Age related macular degeneration 1 +1 more	GConflicting classifications of pathogenicity
Select item 876607	NM_031935.3(HMCN1):c.6564T>G (p.Asn2188Lys)	HMCN1 (N2188K)	Single nucleotide variant (missense variant)	Age related macular degeneration 1	GUncertain significance

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