"Invitae"[submitter] AND "MFF-DT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 857806	NM_000091.5(COL4A3):c.88-5976_195del	COL4A3, MFF-DT	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3023863	NM_000091.5(COL4A3):c.88-27_88-19del	COL4A3, MFF-DT	Deletion (intron variant)	not provided	GLikely benign
Select item 2778966	NM_000091.5(COL4A3):c.88-19T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869435	NM_000091.5(COL4A3):c.88-18C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2141413	NM_000091.5(COL4A3):c.88-18C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554577	NM_000091.5(COL4A3):c.88-10C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely 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 1153671	NM_000091.5(COL4A3):c.90T>C (p.Gly30=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075091	NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	COL4A3, MFF-DT (K34fs)	Microsatellite (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 1906392	NM_000091.5(COL4A3):c.96C>T (p.Val32=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829490	NM_000091.5(COL4A3):c.99T>C (p.Cys33=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 334753	NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)	COL4A3, MFF-DT (Q38E)	Single nucleotide variant (missense variant)	COL4A3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3002050	NM_000091.5(COL4A3):c.120C>T (p.Phe40=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122365	NM_000091.5(COL4A3):c.126C>T (p.Asp42=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963194	NM_000091.5(COL4A3):c.127G>A (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Single nucleotide variant (missense variant)	not provided	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 2765083	NM_000091.5(COL4A3):c.133A>T (p.Lys45Ter)	COL4A3, MFF-DT (K45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1633274	NM_000091.5(COL4A3):c.135A>G (p.Lys45=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 684144	NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)	COL4A3, MFF-DT (G46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1109681	NM_000091.5(COL4A3):c.138G>C (p.Gly46=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158406	NM_000091.5(COL4A3):c.140A>G (p.Glu47Gly)	COL4A3, MFF-DT (E47G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1576438	NM_000091.5(COL4A3):c.141G>A (p.Glu47=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114671	NM_000091.5(COL4A3):c.144+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1656684	NM_000091.5(COL4A3):c.144+7del	COL4A3, MFF-DT	Deletion (intron variant)	not provided	GBenign
Select item 2776155	NM_000091.5(COL4A3):c.144+11dup	COL4A3, MFF-DT	Duplication (intron variant)	not provided	GLikely benign
Select item 2885676	NM_000091.5(COL4A3):c.144+9A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534143	NM_000091.5(COL4A3):c.144+10A>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776156	NM_000091.5(COL4A3):c.144+14del	COL4A3, MFF-DT	Deletion (intron variant)	not provided	GLikely benign
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 3018011	NM_000091.5(COL4A3):c.144+16A>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169320	NM_000091.5(COL4A3):c.144+18T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2969860	NM_000091.5(COL4A3):c.145-17C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619226	NM_000091.5(COL4A3):c.145-16G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794340	NM_000091.5(COL4A3):c.145-13T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2203276	NM_000091.5(COL4A3):c.145-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2203277	NM_000091.5(COL4A3):c.145G>C (p.Gly49Arg)	COL4A3, MFF-DT (G49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820056	NM_000091.5(COL4A3):c.150G>A (p.Glu50=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747385	NM_000091.5(COL4A3):c.159T>C (p.Phe53=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843104	NM_000091.5(COL4A3):c.165A>G (p.Gly55=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200221	NM_000091.5(COL4A3):c.170C>T (p.Pro57Leu)	COL4A3, MFF-DT (P57L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1941989	NM_000091.5(COL4A3):c.170C>A (p.Pro57His)	MFF-DT, COL4A3 (P57H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770940	NM_000091.5(COL4A3):c.171C>G (p.Pro57=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585516	NM_000091.5(COL4A3):c.171C>T (p.Pro57=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 553693	NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	COL4A3, MFF-DT (G58S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1543747	NM_000091.5(COL4A3):c.174T>A (p.Gly58=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419003	NM_000091.5(COL4A3):c.184C>T (p.Gln62Ter)	COL4A3, MFF-DT (Q62*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 562462	NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)	COL4A3, MFF-DT (G64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754503	NM_000091.5(COL4A3):c.204T>C (p.Pro68=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +4 more	GLikely benign
Select item 666815	NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala)	COL4A3, MFF-DT (E69A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1553281	NM_000091.5(COL4A3):c.216T>C (p.Pro72=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808074	NM_000091.5(COL4A3):c.219A>C (p.Gly73=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 334754	NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)	COL4A3, MFF-DT (P74L)	Single nucleotide variant (missense variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 751501	NM_000091.5(COL4A3):c.222G>A (p.Pro74=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +4 more	GLikely benign
Select item 254986	NM_000091.5(COL4A3):c.222G>T (p.Pro74=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	COL4A3-related condition +2 more	GBenign/Likely benign
Select item 2807395	NM_000091.5(COL4A3):c.226_229dup (p.Pro77fs)	COL4A3, MFF-DT (P77fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1499344	NM_000091.5(COL4A3):c.234+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 2103365	NM_000091.5(COL4A3):c.234+10C>A	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807793	NM_000091.5(COL4A3):c.234+13G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019281	NM_000091.5(COL4A3):c.234+17G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912091	NM_000091.5(COL4A3):c.234+19T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749325	NM_000091.5(COL4A3):c.235-20C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975038	NM_000091.5(COL4A3):c.235-12A>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120677	NM_000091.5(COL4A3):c.235-10T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627579	NM_000091.5(COL4A3):c.235-9T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1469247	NM_000091.5(COL4A3):c.235-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1066479	NM_000091.5(COL4A3):c.235-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2069066	NM_000091.5(COL4A3):c.237C>T (p.Gly79=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989870	NM_000091.5(COL4A3):c.248T>A (p.Leu83His)	COL4A3, MFF-DT (L83H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1151733	NM_000091.5(COL4A3):c.249T>G (p.Leu83=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1071261	NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter)	COL4A3, MFF-DT (G85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2714105	NM_000091.5(COL4A3):c.257del (p.Leu86fs)	COL4A3, MFF-DT (L86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1360324	NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)	COL4A3, MFF-DT (T87M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 763825	NM_000091.5(COL4A3):c.261G>A (p.Thr87=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 723235	NM_000091.5(COL4A3):c.261G>C (p.Thr87=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1961108	NM_000091.5(COL4A3):c.272G>C (p.Gly91Ala)	COL4A3, MFF-DT (G91A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1057850	NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)	COL4A3, MFF-DT (G91D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1671124	NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)	COL4A3, MFF-DT (V92I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 718509	NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)	COL4A3, MFF-DT (V92L)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 2417818	NM_000091.5(COL4A3):c.275T>A (p.Val92Glu)	COL4A3, MFF-DT (V92E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2160864	NM_000091.5(COL4A3):c.277A>T (p.Arg93Trp)	COL4A3, MFF-DT (R93W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1066620	NM_000091.5(COL4A3):c.279+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 556684	NM_000091.5(COL4A3):c.279+1G>A	MFF-DT, COL4A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2696555	NM_000091.5(COL4A3):c.279+8G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012471	NM_000091.5(COL4A3):c.279+13A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907772	NM_000091.5(COL4A3):c.279+18T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883291	NM_000091.5(COL4A3):c.280-20C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831627	NM_000091.5(COL4A3):c.280-19C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901100	NM_000091.5(COL4A3):c.280-13C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019531	NM_000091.5(COL4A3):c.280-11T>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096423	NM_000091.5(COL4A3):c.280-10_280-9del	COL4A3, MFF-DT	Deletion (intron variant)	not provided +3 more	GLikely benign
Select item 1118234	NM_000091.5(COL4A3):c.280-10A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1063840	NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)	COL4A3, MFF-DT (G94A)	Single nucleotide variant (missense variant)	COL4A3-related condition +1 more	GUncertain significance
Select item 2163669	NM_000091.5(COL4A3):c.283A>C (p.Ile95Leu)	COL4A3, MFF-DT (I95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013917	NM_000091.5(COL4A3):c.288T>A (p.Ser96Arg)	COL4A3, MFF-DT (S96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760430	NM_000091.5(COL4A3):c.288T>C (p.Ser96=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427601	NM_000091.5(COL4A3):c.293T>G (p.Leu98Trp)	COL4A3, MFF-DT (L98W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437941	NM_000091.5(COL4A3):c.295C>G (p.Pro99Ala)	COL4A3, MFF-DT (P99A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974869	NM_000091.5(COL4A3):c.305del (p.Ser102fs)	COL4A3, MFF-DT (S102fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 794933	NM_000091.5(COL4A3):c.315T>C (p.Pro105=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058326	NM_000091.5(COL4A3):c.321T>C (p.Leu107=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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