"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517578	NM_000091.5(COL4A3):c.21C>A (p.Pro7=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 499491	NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly)	COL4A3, LOC129935730 (A24G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 255004	NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser)	COL4A3, LOC129935730 (P25S)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 255008	NM_000091.5(COL4A3):c.88-4C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254978	NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 254981	NM_000091.5(COL4A3):c.144+12C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +4 more	GBenign
Select item 666815	NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)	COL4A3, MFF-DT (E69A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 254994	NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)	MFF-DT, COL4A3 (P116T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +4 more	GBenign/Likely benign
Select item 522453	NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	COL4A3, MFF-DT (G121S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 334756	NM_000091.5(COL4A3):c.399G>A (p.Gly133=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GBenign
Select item 666678	NM_000091.5(COL4A3):c.405A>G (p.Pro135=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 254996	NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)	COL4A3, MFF-DT (L141P)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 255001	NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)	COL4A3, MFF-DT (E162G)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 666814	NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile)	MFF-DT, COL4A3 (F190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517579	NM_000091.5(COL4A3):c.573T>C (p.Pro191=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 255005	NM_000091.5(COL4A3):c.766-13G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +2 more	GBenign
Select item 255006	NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)	COL4A3, MFF-DT (E269K)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 255009	NM_000091.5(COL4A3):c.933+14T>C	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 255010	NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)	COL4A3, MFF-DT (D326Y)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 254976	NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 254977	NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)	COL4A3, MFF-DT (R408H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 254979	NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)	COL4A3, MFF-DT (H451R)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign/Likely benign
Select item 666621	NM_000091.5(COL4A3):c.1353C>T (p.His451=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 254982	NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GBenign/Likely benign
Select item 254983	NM_000091.5(COL4A3):c.1505-11T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +2 more	GBenign
Select item 254984	NM_000091.5(COL4A3):c.1576-15T>G	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254985	NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)	COL4A3, MFF-DT (P574L)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 452348	NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)	COL4A3, MFF-DT (T629M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 254987	NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg)	COL4A3, MFF-DT (K834R)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 254988	NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 447170	NM_000091.5(COL4A3):c.2826C>T (p.Pro942=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 595859	NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 667102	NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1120090	NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val)	COL4A3, MFF-DT (E1084V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 254991	NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 254992	NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 254993	NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)	COL4A3, MFF-DT (P1109S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 667044	NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)	COL4A3, MFF-DT (R1159H)	Single nucleotide variant (missense variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 517651	NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)	COL4A3, MFF-DT (D1193N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 508705	NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)	COL4A3, MFF-DT (M1209I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 254995	NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)	COL4A3, MFF-DT (D1269E)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 594998	NM_000091.5(COL4A3):c.3825C>T (p.His1275=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930119	NM_000091.5(COL4A3):c.3861C>T (p.Asp1287=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 334777	NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334778	NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334780	NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)	COL4A3, MFF-DT (D1347E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 517580	NM_000091.5(COL4A3):c.4191A>G (p.Gly1397=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +6 more	GConflicting classifications of pathogenicity
Select item 501978	NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)	MFF-DT, COL4A3 (A1482V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 334784	NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 254998	NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)	COL4A3, MFF-DT (Q1495R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +6 more	GBenign/Likely benign
Select item 334785	NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 499789	NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)	COL4A3, MFF-DT (F1504L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 334786	NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)	MFF-DT, COL4A3 (N1508S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +5 more	GConflicting classifications of pathogenicity
Select item 930146	NM_000091.5(COL4A3):c.4673T>C (p.Ile1558Thr)	COL4A3, MFF-DT (I1558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 255000	NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 56