ClinVar for MedGen (Select 1050849) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 150

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3765642	NM_001845.6(COL4A1):c.1784G>A (p.Gly595Asp)	COL4A1 (G595D)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GLikely pathogenic
Select item 3377389	NM_001845.6(COL4A1):c.2707G>C (p.Gly903Arg)	COL4A1 (G903R)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GPathogenic
Select item 3354828	NM_001845.6(COL4A1):c.2194-3C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3353582	NM_001845.6(COL4A1):c.510G>A (p.Leu170=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 3349384	NM_001845.6(COL4A1):c.4139A>G (p.Lys1380Arg)	COL4A1 (K1380R)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3348035	NM_001845.6(COL4A1):c.3031_3033dup (p.Gly1011_Ser1012insGly)	COL4A1	Duplication (inframe_insertion)	COL4A1-related disorder	GUncertain significance
Select item 3347706	NM_001845.6(COL4A1):c.2242C>G (p.Pro748Ala)	COL4A1 (P748A)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3347554	NM_001845.6(COL4A1):c.4462G>C (p.Gly1488Arg)	COL4A1 (G1488R)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3346910	NM_001845.6(COL4A1):c.740A>C (p.Gln247Pro)	COL4A1 (Q247P)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3345148	NM_001845.6(COL4A1):c.4529T>C (p.Val1510Ala)	COL4A1 (V1510A)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3345064	NM_001845.6(COL4A1):c.2096-2del	COL4A1	Deletion (splice acceptor variant)	COL4A1-related disorder	GLikely pathogenic
Select item 3344968	NM_001845.6(COL4A1):c.1892T>C (p.Leu631Pro)	COL4A1 (L631P)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3069147	NM_001845.6(COL4A1):c.3294del (p.Ser1101fs)	COL4A1 (S1101fs)	Deletion (frameshift variant)	COL4A1-related disorder	GPathogenic
Select item 3061221	NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)	COL4A1 (G957*)	Single nucleotide variant (nonsense)	COL4A1-related disorder	GLikely pathogenic
Select item 3061169	NM_001845.6(COL4A1):c.1897G>T (p.Gly633Cys)	COL4A1 (G633C)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3061119	NM_001845.6(COL4A1):c.1536+1G>A	COL4A1	Single nucleotide variant (splice donor variant)	COL4A1-related disorder	GLikely pathogenic
Select item 3061046	NM_001845.6(COL4A1):c.2066T>C (p.Ile689Thr)	COL4A1 (I689T)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3059637	NM_001845.6(COL4A1):c.4377G>A (p.Gln1459=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 3058288	NM_001845.6(COL4A1):c.1536+595C>T	COL4A1	Single nucleotide variant (3 prime UTR variant +1 more)	COL4A1-related disorder	GLikely benign
Select item 3057696	NM_001845.6(COL4A1):c.3198+9C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3055034	NM_001845.6(COL4A1):c.1748G>T (p.Gly583Val)	COL4A1 (G583V)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3054900	NM_001845.6(COL4A1):c.468+5A>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3052335	NM_001845.6(COL4A1):c.388-10G>A	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3052301	NM_001845.6(COL4A1):c.903+6T>C	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3051533	NM_001845.6(COL4A1):c.4494C>T (p.Ser1498=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 3050331	NM_001845.6(COL4A1):c.2407C>T (p.Pro803Ser)	COL4A1 (P803S)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 3049801	NM_001845.6(COL4A1):c.2096-3C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3048399	NM_001845.6(COL4A1):c.3877-23C>G	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3046293	NM_001845.6(COL4A1):c.3877-39T>C	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3045215	NM_001845.6(COL4A1):c.2095+7C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3044735	NM_001845.6(COL4A1):c.2520C>T (p.Gly840=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 3036938	NM_001845.6(COL4A1):c.4041C>A (p.Gly1347=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036396	NM_001845.6(COL4A1):c.2969-10A>G	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3032836	NC_000013.11:g.110145211C>T	COL4A1	Single nucleotide variant	COL4A1-related disorder	GLikely benign
Select item 3032557	NM_001845.6(COL4A1):c.1023A>G (p.Gly341=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 3032378	NM_001845.6(COL4A1):c.388-10G>C	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder	GLikely benign
Select item 3032369	NM_001845.6(COL4A1):c.84+2dup	COL4A1	Duplication (splice donor variant)	COL4A1-related disorder	GUncertain significance
Select item 3030207	NM_001845.6(COL4A1):c.384A>G (p.Thr128=)	COL4A1	Single nucleotide variant (synonymous variant)	COL4A1-related disorder	GLikely benign
Select item 3030128	NM_001845.6(COL4A1):c.2969-7del	COL4A1	Deletion (intron variant)	COL4A1-related disorder	GLikely benign
Select item 2916940	NM_001845.6(COL4A1):c.4150+9G>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912947	NM_001845.6(COL4A1):c.3059-7T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857973	NM_001845.6(COL4A1):c.4249+10G>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803557	NM_001845.6(COL4A1):c.3557-3C>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2778803	NM_001845.6(COL4A1):c.2964G>A (p.Gln988=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724232	NM_001845.6(COL4A1):c.3876+9T>C	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723801	NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)	COL4A1 (V765I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634926	NM_001845.6(COL4A1):c.1796A>G (p.Asp599Gly)	COL4A1 (D599G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633464	NM_001845.6(COL4A1):c.4348A>G (p.Arg1450Gly)	COL4A1 (R1450G)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2633221	NM_001845.6(COL4A1):c.2486G>T (p.Gly829Val)	COL4A1 (G829V)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GLikely pathogenic
Select item 2632938	NM_001845.6(COL4A1):c.4565G>T (p.Trp1522Leu)	COL4A1 (W1522L)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2631504	NM_001845.6(COL4A1):c.3187_3189delinsTGT (p.Arg1063Cys)	COL4A1 (R1063C)	Indel (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2631473	NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)	COL4A1 (G1284E)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GLikely pathogenic
Select item 2631134	NM_001845.6(COL4A1):c.362G>A (p.Gly121Asp)	COL4A1 (G121D)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2630656	NM_001845.6(COL4A1):c.1180G>A (p.Gly394Ser)	COL4A1 (G394S)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2629690	NM_001845.6(COL4A1):c.263G>C (p.Gly88Ala)	COL4A1 (G88A)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2628754	NM_001845.6(COL4A1):c.3376G>T (p.Asp1126Tyr)	COL4A1 (D1126Y)	Single nucleotide variant (missense variant)	COL4A1-related disorder	GUncertain significance
Select item 2584470	NM_001845.6(COL4A1):c.2411dup (p.Gly805fs)	COL4A1 (G805fs)	Duplication (frameshift variant)	COL4A1-related disorder	GLikely pathogenic
Select item 2430627	NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)	COL4A1 (Q1334R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2413834	NM_001845.6(COL4A1):c.3645G>A (p.Pro1215=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2201588	NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)	COL4A1 (P1250L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201443	NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)	COL4A1 (P920S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200032	NM_001845.6(COL4A1):c.3325+8del	COL4A1	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 2199543	NM_001845.6(COL4A1):c.495T>C (p.His165=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193572	NM_001845.6(COL4A1):c.4740C>T (p.Gly1580=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188382	NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)	COL4A1 (T1646M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187699	NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)	COL4A1 (K1643Q)	Single nucleotide variant (missense variant)	COL4A1-related disorder +1 more	GUncertain significance
Select item 2179711	NM_001845.6(COL4A1):c.119A>T (p.Asp40Val)	COL4A1 (D40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153385	NM_001845.6(COL4A1):c.822C>T (p.Val274=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111854	NM_001845.6(COL4A1):c.4974C>T (p.His1658=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076431	NM_001845.6(COL4A1):c.1714C>T (p.Pro572Ser)	COL4A1 (P572S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075628	NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)	COL4A1 (A325V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2056442	NM_001845.6(COL4A1):c.781-4T>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048051	NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)	COL4A1 (P694L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986740	NM_001845.6(COL4A1):c.377A>G (p.Asn126Ser)	COL4A1 (N126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1965547	NM_001845.6(COL4A1):c.958-9del	COL4A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1944089	NM_001845.6(COL4A1):c.3505+7C>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934098	NM_001845.6(COL4A1):c.4920G>A (p.Glu1640=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922707	NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)	COL4A1 (G341A)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely pathogenic
Select item 1699185	NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala)	COL4A1 (P613A)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GUncertain significance
Select item 1667412	NM_001845.6(COL4A1):c.4281C>T (p.Pro1427=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664212	NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser)	COL4A1 (P512S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1654111	NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1642430	NM_001845.6(COL4A1):c.852A>G (p.Gly284=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640154	NM_001845.6(COL4A1):c.1990+7T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1633999	NM_001845.6(COL4A1):c.2658C>T (p.Thr886=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628327	NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)	COL4A1 (R585C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1627937	NM_001845.6(COL4A1):c.4407C>T (p.His1469=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598590	NM_001845.6(COL4A1):c.1000-8C>T	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1590065	NM_001845.6(COL4A1):c.84+9C>G	COL4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551426	NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GLikely benign
Select item 1546348	NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu)	COL4A1 (P1569L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1532967	NM_001845.6(COL4A1):c.958-5dup	COL4A1	Duplication (intron variant)	not provided	GBenign
Select item 1530631	NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more	GLikely benign
Select item 1417465	NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)	COL4A1 (R1063*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1411062	NM_001845.6(COL4A1):c.3561A>G (p.Ser1187=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396945	NM_001845.6(COL4A1):c.2377G>A (p.Val793Met)	COL4A1 (V793M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377983	NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu)	COL4A1 (P839L)	Single nucleotide variant (missense variant)	COL4A1-related disorder +6 more	GUncertain significance
Select item 1302769	NM_001845.6(COL4A1):c.3877-30C>A	COL4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1299803	NM_001845.6(COL4A1):c.1121-18G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1206038	NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)	COL4A1 (R585H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2