COL4A2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 881061	NM_001846.4(COL4A2):c.-277A>G	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 881521	NM_001846.4(COL4A2):c.-241C>T	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 881522	NM_001846.4(COL4A2):c.-220C>T	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 881523	NM_001846.4(COL4A2):c.-215C>A	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GBenign
Select item 882683	NM_001846.4(COL4A2):c.-117C>T	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 882684	NM_001846.4(COL4A2):c.-87G>A	COL4A2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882685	NM_001846.4(COL4A2):c.-77G>A	COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2	GUncertain significance
Select item 1272966	NM_001846.4(COL4A2):c.-44-163G>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189984	NM_001846.4(COL4A2):c.-44-140G>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226919	NM_001846.4(COL4A2):c.-44-43C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311095	NM_001846.4(COL4A2):c.-44-5T>C	COL4A2	Single nucleotide variant (intron variant)	Porencephaly 2	GUncertain significance
Select item 1316039	NM_001846.4(COL4A2):c.-44-1G>C	COL4A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1431677	NM_001846.4(COL4A2):c.4G>C (p.Gly2Arg)	COL4A2 (G2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978164	NM_001846.4(COL4A2):c.6G>T (p.Gly2=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851562	NM_001846.4(COL4A2):c.28G>A (p.Gly10Ser)	COL4A2 (G10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233031	NM_001846.4(COL4A2):c.37C>G (p.Leu13Val)	COL4A2 (L13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2807829	NM_001846.4(COL4A2):c.39A>G (p.Leu13=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184207	NM_001846.4(COL4A2):c.44+9C>T	COL4A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2177716	NM_001846.4(COL4A2):c.44+10T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1562270	NM_001846.4(COL4A2):c.44+10T>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987484	NM_001846.4(COL4A2):c.44+15G>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268588	NM_001846.4(COL4A2):c.45-44C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567493	NM_001846.4(COL4A2):c.45-17C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953144	NM_001846.4(COL4A2):c.45-8C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504373	NM_001846.4(COL4A2):c.45-1G>A	COL4A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 996939	NM_001846.4(COL4A2):c.49C>G (p.Leu17Val)	COL4A2 (L17V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882686	NM_001846.4(COL4A2):c.49C>T (p.Leu17=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2167128	NM_001846.4(COL4A2):c.55C>T (p.Leu19=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984709	NM_001846.4(COL4A2):c.60G>T (p.Gly20=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147587	NM_001846.4(COL4A2):c.67A>G (p.Thr23Ala)	COL4A2 (T23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1620977	NM_001846.4(COL4A2):c.69C>T (p.Thr23=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487475	NM_001846.4(COL4A2):c.82G>A (p.Ala28Thr)	COL4A2 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123199	NM_001846.4(COL4A2):c.83C>T (p.Ala28Val)	COL4A2 (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542998	NM_001846.4(COL4A2):c.89G>A (p.Ser30Asn)	COL4A2 (S30N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2141168	NM_001846.4(COL4A2):c.92T>C (p.Val31Ala)	COL4A2 (V31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435266	NM_001846.4(COL4A2):c.99+4A>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1585272	NM_001846.4(COL4A2):c.99+7C>G	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related disorder +1 more	GLikely benign
Select item 1600882	NM_001846.4(COL4A2):c.99+16C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018634	NM_001846.4(COL4A2):c.99+19G>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224954	NM_001846.4(COL4A2):c.99+215T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293746	NM_001846.4(COL4A2):c.100-176G>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1632485	NM_001846.4(COL4A2):c.100-18T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003070	NM_001846.4(COL4A2):c.100-11dup	COL4A2	Duplication (intron variant)	not provided	GBenign
Select item 1929042	NM_001846.4(COL4A2):c.100-6T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971888	NM_001846.4(COL4A2):c.103G>A (p.Val35Met)	COL4A2 (V35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761555	NM_001846.4(COL4A2):c.109A>C (p.Lys37Gln)	COL4A2 (K37Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956233	NM_001846.4(COL4A2):c.111G>A (p.Lys37=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921121	NM_001846.4(COL4A2):c.111G>C (p.Lys37Asn)	COL4A2 (K37N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631960	NM_001846.4(COL4A2):c.121C>T (p.Pro41Ser)	COL4A2 (P41S)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 2907743	NM_001846.4(COL4A2):c.123G>A (p.Pro41=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822058	NM_001846.4(COL4A2):c.124T>C (p.Cys42Arg)	COL4A2 (C42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507176	NM_001846.4(COL4A2):c.143G>T (p.Ser48Ile)	COL4A2 (S48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2167974	NM_001846.4(COL4A2):c.163C>A (p.Pro55Thr)	COL4A2 (P55T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1316739	NM_001846.4(COL4A2):c.164C>T (p.Pro55Leu)	COL4A2 (P55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2989194	NM_001846.4(COL4A2):c.165T>G (p.Pro55=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1231717	NM_001846.4(COL4A2):c.180+179A>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164920	NM_001846.4(COL4A2):c.181-27458T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226274	NM_001846.4(COL4A2):c.181-141T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269126	NM_001846.4(COL4A2):c.181-87_181-83dup	COL4A2	Duplication (intron variant)	not provided	GBenign
Select item 1248681	NM_001846.4(COL4A2):c.181-86_181-83dup	COL4A2	Duplication (intron variant)	not provided	GBenign
Select item 1245325	NM_001846.4(COL4A2):c.181-83dup	COL4A2	Duplication (intron variant)	not provided	GBenign
Select item 1213472	NM_001846.4(COL4A2):c.181-85_181-83dup	COL4A2	Duplication (intron variant)	not provided	GLikely benign
Select item 1223949	NM_001846.4(COL4A2):c.181-63G>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669768	NM_001846.4(COL4A2):c.181-18C>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1906283	NM_001846.4(COL4A2):c.181-17C>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538752	NM_001846.4(COL4A2):c.181-16T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945133	NM_001846.4(COL4A2):c.181-9T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2440312	NM_001846.4(COL4A2):c.186G>T (p.Gln62His)	COL4A2 (Q62H)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 2571927	NM_001846.4(COL4A2):c.197T>C (p.Val66Ala)	COL4A2 (V66A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893912	NM_001846.4(COL4A2):c.204C>G (p.Pro68=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696957	NM_001846.4(COL4A2):c.205C>T (p.Gln69Ter)	COL4A2 (Q69*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3014501	NM_001846.4(COL4A2):c.207G>A (p.Gln69=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047069	NM_001846.4(COL4A2):c.216T>C (p.Asn72=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800656	NM_001846.4(COL4A2):c.217G>C (p.Gly73Arg)	COL4A2 (G73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899731	NM_001846.4(COL4A2):c.240C>T (p.Phe80=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758743	NM_001846.4(COL4A2):c.242C>T (p.Pro81Leu)	COL4A2 (P81L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1910357	NM_001846.4(COL4A2):c.243G>A (p.Pro81=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414422	NM_001846.4(COL4A2):c.253G>A (p.Gly85Arg)	COL4A2 (G85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958429	NM_001846.4(COL4A2):c.256C>T (p.Arg86Cys)	COL4A2 (R86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882687	NM_001846.4(COL4A2):c.257G>A (p.Arg86His)	COL4A2 (R86H)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GBenign/Likely benign
Select item 2429055	NM_001846.4(COL4A2):c.274G>T (p.Glu92Ter)	COL4A2 (E92*)	Single nucleotide variant (nonsense)	COL4A2-related disorder	GLikely pathogenic
Select item 2497902	NM_001846.4(COL4A2):c.281G>A (p.Gly94Glu)	COL4A2 (G94E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679700	NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp)	COL4A2 (A95D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1316909	NM_001846.4(COL4A2):c.284C>T (p.Ala95Val)	COL4A2 (A95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027967	NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser)	COL4A2 (P96S)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 2672549	NM_001846.4(COL4A2):c.287C>T (p.Pro96Leu)	COL4A2 (P96L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889134	NM_001846.4(COL4A2):c.288C>T (p.Pro96=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521905	NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu)	COL4A2 (G97E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2986952	NM_001846.4(COL4A2):c.292G>A (p.Val98Ile)	COL4A2 (V98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 311096	NM_001846.4(COL4A2):c.297G>A (p.Thr99=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1318521	NM_001846.4(COL4A2):c.298G>A (p.Gly100Arg)	COL4A2 (G100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175425	NM_001846.4(COL4A2):c.302C>A (p.Pro101His)	COL4A2 (P101H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 883463	NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg)	COL4A2 (K102R)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 2877704	NM_001846.4(COL4A2):c.310G>A (p.Asp104Asn)	COL4A2 (D104N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531521	NM_001846.4(COL4A2):c.313G>T (p.Val105Leu)	COL4A2 (V105L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 634465	NM_001846.4(COL4A2):c.313G>A (p.Val105Met)	COL4A2 (V105M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1593000	NM_001846.4(COL4A2):c.315+4C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related disorder +2 more	GLikely benign
Select item 1196528	NM_001846.4(COL4A2):c.315+5G>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 311097	NM_001846.4(COL4A2):c.315+14G>T	COL4A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1280685	NM_001846.4(COL4A2):c.315+19T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GBenign

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