MFF-DT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
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 562460	NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg)	MFF-DT, COL4A3 (G30R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1725980	NM_000091.5(COL4A3):c.94_95del (p.Val32fs)	COL4A3, MFF-DT (V32fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
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)	Inborn genetic diseases +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 3066088	NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer)	COL4A3, MFF-DT (C41*)	Indel (nonsense)	Autosomal dominant Alport syndrome	GLikely pathogenic
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 3233713	NM_000091.5(COL4A3):c.127_129delinsCGA (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Indel (missense variant)	not specified	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)	not provided +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 829844	NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter)	COL4A3, MFF-DT (K48*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GPathogenic
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)	Autosomal dominant 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 1288734	NM_000091.5(COL4A3):c.144+165dup	COL4A3, MFF-DT	Duplication (intron variant)	not provided	GBenign
Select item 1224985	NM_000091.5(COL4A3):c.144+165del	COL4A3, MFF-DT	Deletion (intron variant)	not provided	GBenign
Select item 1265064	NM_000091.5(COL4A3):c.144+181G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225698	NM_000091.5(COL4A3):c.144+182G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1172948	NM_000091.5(COL4A3):c.145-99C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +1 more	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 558441	NM_000091.5(COL4A3):c.145-2_145-1del	COL4A3, MFF-DT	Deletion (splice acceptor variant)	Autosomal recessive Alport syndrome	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 558062	NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg)	COL4A3, MFF-DT (G49R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	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 984031	NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)	MFF-DT, COL4A3 (K51*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
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 2440313	NM_000091.5(COL4A3):c.161C>T (p.Pro54Leu)	COL4A3, MFF-DT (P54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not specified +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)	COL4A3-related disorder +4 more	GLikely benign
Select item 684429	NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter)	COL4A3, MFF-DT (E69*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GLikely pathogenic
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)	not provided +4 more	GLikely benign
Select item 254986	NM_000091.5(COL4A3):c.222G>T (p.Pro74=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	COL4A3-related disorder +2 more	GBenign/Likely benign
Select item 2691522	NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)	COL4A3, MFF-DT (Q75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807395	NM_000091.5(COL4A3):c.226_229dup (p.Pro77fs)	COL4A3, MFF-DT (P77fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2573679	NM_000091.5(COL4A3):c.232A>C (p.Lys78Gln)	COL4A3, MFF-DT (K78Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809177	NM_000091.5(COL4A3):c.232A>G (p.Lys78Glu)	COL4A3, MFF-DT (K78E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2524789	NM_000091.5(COL4A3):c.247C>G (p.Leu83Val)	COL4A3, MFF-DT (L83V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 599057	NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr)	MFF-DT, COL4A3 (P84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	MFF-DT, COL4A3 (T87M)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +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

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