Related gene-specific medical variations for Gene (Select 1285) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374730	NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)	COL4A3, MFF-DT (G575E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3371055	NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)	COL4A3, MFF-DT (G1385E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370980	NM_000091.5(COL4A3):c.6C>G (p.Ser2Arg)	COL4A3, LOC129935730 (S2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370609	NM_000091.5(COL4A3):c.3336A>G (p.Pro1112=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3370320	NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)	COL4A3, MFF-DT (G321A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3370216	NM_000091.5(COL4A3):c.3188G>A (p.Arg1063Lys)	COL4A3, MFF-DT (R1063K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369815	NM_000091.5(COL4A3):c.856G>A (p.Glu286Lys)	COL4A3, MFF-DT (E286K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367508	NM_000091.5(COL4A3):c.2425T>G (p.Cys809Gly)	COL4A3, MFF-DT (C809G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367499	NM_000091.5(COL4A3):c.641C>A (p.Pro214His)	COL4A3, MFF-DT (P214H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367373	NM_000091.5(COL4A3):c.2074G>T (p.Gly692Cys)	COL4A3, MFF-DT (G692C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3367108	NM_000091.5(COL4A3):c.3391G>A (p.Gly1131Ser)	COL4A3, MFF-DT (G1131S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3366381	NM_000091.5(COL4A3):c.3481G>A (p.Gly1161Arg)	COL4A3, MFF-DT (G1161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366275	NM_000091.5(COL4A3):c.3520T>G (p.Leu1174Val)	COL4A3, MFF-DT (L1174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364038	NM_000091.5(COL4A3):c.43_54dup (p.Pro15_Leu18dup)	COL4A3, LOC129935730	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3363355	NM_000091.5(COL4A3):c.2414C>A (p.Pro805His)	COL4A3, MFF-DT (P805H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363131	NM_000091.5(COL4A3):c.325-13_325-11del	COL4A3	Deletion (intron variant)	Alport syndrome 3b, autosomal recessive	GUncertain significance
Select item 3362708	NM_000091.5(COL4A3):c.2962G>T (p.Gly988Ter)	COL4A3, MFF-DT (G988*)	Single nucleotide variant (nonsense)	Alport syndrome 3b, autosomal recessive	GLikely pathogenic
Select item 3361975	NM_000091.5(COL4A3):c.4366G>C (p.Ala1456Pro)	COL4A3 (A1456P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360975	NM_000091.5(COL4A3):c.4294C>T (p.Arg1432Cys)	COL4A3 (R1432C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359983	NM_000091.5(COL4A3):c.2868A>T (p.Glu956Asp)	COL4A3 (E956D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359052	NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp)	COL4A3 (G1307D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3357010	NM_000091.5(COL4A3):c.5006G>A (p.Arg1669Lys)	COL4A3, MFF-DT (R1669K)	Single nucleotide variant (missense variant)	COL4A3-related disorder	GUncertain significance
Select item 3355882	NM_000091.5(COL4A3):c.7G>A (p.Ala3Thr)	COL4A3, LOC129935730 (A3T)	Single nucleotide variant (missense variant)	COL4A3-related disorder	GUncertain significance
Select item 3351900	NM_000091.5(COL4A3):c.65C>A (p.Ala22Glu)	COL4A3, LOC129935730 (A22E)	Single nucleotide variant (missense variant)	COL4A3-related disorder	GUncertain significance
Select item 3348860	NM_000091.5(COL4A3):c.3311del (p.Gly1104fs)	COL4A3, MFF-DT (G1104fs)	Deletion (frameshift variant)	COL4A3-related disorder	GLikely pathogenic
Select item 3347072	NM_000091.5(COL4A3):c.4642T>C (p.Cys1548Arg)	COL4A3, MFF-DT (C1548R)	Single nucleotide variant (missense variant)	COL4A3-related disorder	GUncertain significance
Select item 3346673	NM_000091.5(COL4A3):c.1027C>A (p.Pro343Thr)	COL4A3, MFF-DT (P343T)	Single nucleotide variant (missense variant)	COL4A3-related disorder	GUncertain significance
Select item 3345978	NM_000091.5(COL4A3):c.4089T>A (p.Pro1363=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	COL4A3-related disorder	GLikely benign
Select item 3344973	NM_000091.5(COL4A3):c.2966C>T (p.Pro989Leu)	COL4A3, MFF-DT (P989L)	Single nucleotide variant (missense variant)	COL4A3-related disorder	GUncertain significance
Select item 3342275	NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)	COL4A3, MFF-DT (G614E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3340054	NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)	COL4A3, MFF-DT (G1274D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339865	NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)	COL4A3, MFF-DT (G1403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339813	NM_000091.5(COL4A3):c.3346G>C (p.Gly1116Arg)	COL4A3, MFF-DT (G1116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339406	NM_000091.5(COL4A3):c.1642G>A (p.Gly548Arg)	COL4A3, MFF-DT (G548R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339106	NM_000091.5(COL4A3):c.362G>A (p.Gly121Asp)	COL4A3, MFF-DT (G121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338980	NM_000091.5(COL4A3):c.4123C>T (p.Pro1375Ser)	COL4A3, MFF-DT (P1375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338668	NM_000091.5(COL4A3):c.451G>T (p.Gly151Cys)	COL4A3, MFF-DT (G151C)	Single nucleotide variant (missense variant)	Hematuria, benign familial, 2	GLikely pathogenic
Select item 3338410	NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)	COL4A3, MFF-DT (G1140R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3337946	NM_000091.5(COL4A3):c.441+5G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3336422	NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)	COL4A3, MFF-DT (G148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336421	NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)	COL4A3, MFF-DT (G1397E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336371	NM_000091.5(COL4A3):c.3955+6G>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336219	NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)	COL4A3, MFF-DT (G318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336028	NM_000091.5(COL4A3):c.3474A>T (p.Gly1158=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336000	NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)	COL4A3, MFF-DT (G514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268728	NM_000091.5(COL4A3):c.4294C>A (p.Arg1432Ser)	COL4A3, MFF-DT (R1432S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268727	NM_000091.5(COL4A3):c.2045G>A (p.Cys682Tyr)	COL4A3, MFF-DT (C682Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268726	NM_000091.5(COL4A3):c.2512A>G (p.Lys838Glu)	COL4A3, MFF-DT (K838E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256892	NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)	COL4A3, MFF-DT (G1180D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256861	NM_000091.5(COL4A3):c.889-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3256860	NM_000091.5(COL4A3):c.1927+4G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3256699	NM_000091.5(COL4A3):c.744_765+66del	COL4A3, MFF-DT	Deletion (splice donor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3256680	NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)	COL4A3, MFF-DT (G1301D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256675	NM_000091.5(COL4A3):c.1029+3A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3256672	NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)	COL4A3, MFF-DT (G1316V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256660	NM_000091.5(COL4A3):c.4958G>A (p.Gly1653Glu)	COL4A3, MFF-DT (G1653E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3256639	NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)	COL4A3, MFF-DT (G1400E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256629	NM_000091.5(COL4A3):c.3208A>G (p.Thr1070Ala)	COL4A3, MFF-DT (T1070A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3256628	NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)	COL4A3, MFF-DT (G868V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256622	NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)	COL4A3, MFF-DT (G1307S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256617	NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)	COL4A3, MFF-DT (G219C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3255274	NM_000091.5(COL4A3):c.3337+385T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3253160	NM_000091.5(COL4A3):c.3224T>G (p.Leu1075Arg)	COL4A3, MFF-DT (L1075R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252741	NM_000091.5(COL4A3):c.4067T>G (p.Leu1356Arg)	COL4A3, MFF-DT (L1356R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251677	NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg)	COL4A3, MFF-DT (G1298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251652	NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val)	COL4A3, MFF-DT (G919V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251495	NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala)	COL4A3, MFF-DT (G106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250484	NM_000091.5(COL4A3):c.1526T>A (p.Leu509Ter)	COL4A3, MFF-DT (L509*)	Single nucleotide variant (nonsense)	Alport syndrome 3b, autosomal recessive	GPathogenic
Select item 3250481	NM_000091.5(COL4A3):c.1337del (p.Gly446fs)	COL4A3, MFF-DT (G446fs)	Deletion (frameshift variant)	Alport syndrome 3b, autosomal recessive	GPathogenic
Select item 3247441	NC_000002.11:g.(?_228165686)_(228172483_?)dup	COL4A3	Duplication	not provided	GLikely pathogenic
Select item 3247440	NC_000002.11:g.(?_228096705)_(228104906_?)del	COL4A3	Deletion	not provided	GLikely pathogenic
Select item 3247439	NC_000002.11:g.(?_228113139)_(228118910_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 3247438	NC_000002.11:g.(?_228153846)_(228160052_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 3247437	NC_000002.11:g.(?_228142145)_(228149081_?)del	COL4A3	Deletion	not provided	GUncertain significance
Select item 3247436	NC_000002.11:g.(?_228120722)_(228121132_?)del	COL4A3	Deletion	not provided	GPathogenic
Select item 3242556	NM_000091.5(COL4A3):c.987G>A (p.Lys329=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3236817	NM_000091.5(COL4A3):c.317G>T (p.Gly106Val)	COL4A3, MFF-DT (G106V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236813	NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg)	COL4A3, MFF-DT (G467R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236781	NM_000091.5(COL4A3):c.373T>G (p.Cys125Gly)	COL4A3, MFF-DT (C125G)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3236369	NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg)	COL4A3, MFF-DT (G1418R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236150	NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu)	COL4A3, MFF-DT (G955E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236081	NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val)	COL4A3, MFF-DT (G458V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236079	NM_000091.5(COL4A3):c.5008del (p.His1670fs)	COL4A3, MFF-DT (H1670fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3236071	NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu)	COL4A3, MFF-DT (G898E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236067	NM_000091.5(COL4A3):c.2092G>A (p.Gly698Arg)	COL4A3, MFF-DT (G698R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3236037	NM_000091.5(COL4A3):c.2657-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3236031	NM_000091.5(COL4A3):c.2390del (p.Pro797fs)	COL4A3, MFF-DT (P797fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3235992	NM_000091.5(COL4A3):c.279+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3235969	NM_000091.5(COL4A3):c.3324dup (p.Pro1109fs)	COL4A3, MFF-DT (P1109fs)	Duplication (frameshift variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3235248	NM_000091.5(COL4A3):c.716dup (p.Pro240fs)	COL4A3, MFF-DT (P240fs)	Duplication (frameshift variant)	Alport syndrome 3b, autosomal recessive	GPathogenic
Select item 3234114	NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg)	COL4A3, MFF-DT (G1248R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234106	NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val)	COL4A3, MFF-DT (G424V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234099	NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser)	COL4A3, MFF-DT (G1152S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234088	NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu)	COL4A3, MFF-DT (G1092E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234059	NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter)	COL4A3, MFF-DT (Q1453*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3234033	NM_000091.5(COL4A3):c.1575+4A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome	GUncertain significance

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