Related gene-specific medical variations for Gene (Select 1286) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065771	NM_000092.5(COL4A4):c.3585_3588dup (p.Val1197Ter)	COL4A4 (V1197*)	Duplication (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3064968	NM_000092.5(COL4A4):c.4650del (p.Pro1550_Met1551insTer)	COL4A4	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3064922	NM_000092.5(COL4A4):c.915_930+1del	COL4A4	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2683952	NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)	COL4A4 (G252A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2582748	NM_000092.5(COL4A4):c.4523-1G>A	COL4A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2503099	NM_000092.5(COL4A4):c.2624del (p.Pro875fs)	COL4A4 (P875fs)	Deletion (frameshift variant)	Usher syndrome	GUncertain significance
Select item 2442108	NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)	COL4A4 (G719R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2440321	NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)	COL4A4 (P1449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440319	NM_000092.5(COL4A4):c.1756C>A (p.His586Asn)	COL4A4 (H586N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439392	NM_000092.5(COL4A4):c.3154G>T (p.Glu1052Ter)	COL4A4 (E1052*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2439384	NM_000092.5(COL4A4):c.2699del (p.Gly900fs)	COL4A4 (G900fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2251947	NM_001167608.3(RHBDD1):c.910A>G (p.Met304Val)	RHBDD1, LOC126806538 +1 more (M304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699943	NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg)	COL4A4 (G285R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 1693294	NM_000092.5(COL4A4):c.4766C>T (p.Pro1589Leu)	COL4A4 (P1589L)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1344702	NM_000092.5(COL4A4):c.1697-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	Disease of glomerular basement membrane	GPathogenic
Select item 1344701	NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs)	COL4A4 (A1502fs)	Duplication (frameshift variant)	Disease of glomerular basement membrane	GPathogenic
Select item 1344700	NM_000092.5(COL4A4):c.2383G>A (p.Gly795Arg)	COL4A4 (G795R)	Single nucleotide variant (missense variant)	Polycystic kidney disease	GPathogenic
Select item 1342865	NM_000092.5(COL4A4):c.412dup (p.Met138fs)	COL4A4 (M138fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis	GLikely pathogenic
Select item 1324122	NM_000092.5(COL4A4):c.784_790del (p.Pro262fs)	COL4A4 (P262fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324121	NM_000092.5(COL4A4):c.4548_4549del (p.Val1516_Phe1517insTer)	COL4A4	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324120	NM_000092.5(COL4A4):c.3973G>T (p.Gly1325Ter)	COL4A4 (G1325*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1298378	NM_000092.5(COL4A4):c.2860+2T>G	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GPathogenic
Select item 1256221	NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val)	COL4A4 (A624V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179080	NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)	COL4A4 (G205V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 989516	NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)	COL4A4 (P256S)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 989515	NM_000092.5(COL4A4):c.846A>C (p.Gly282=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 989514	NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)	COL4A4 (L283M)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 989513	NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)	COL4A4 (P529S)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 989512	NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 989511	NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 986415	NM_000092.5(COL4A4):c.1715del (p.Gly572fs)	COL4A4 (G572fs)	Deletion (frameshift variant)	Benign familial hematuria	Gnot provided
Select item 974511	NM_000092.5:c.1205_1369del	COL4A4	Deletion	Autosomal recessive Alport syndrome	GPathogenic
Select item 931925	NM_000092.5(COL4A4):c.1163G>T (p.Gly388Val)	COL4A4 (G388V)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance
Select item 769592	NM_001167608.3(RHBDD1):c.897C>T (p.Leu299=)	COL4A4, LOC126806538 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635012	NM_000092.5(COL4A4):c.719G>A (p.Gly240Glu)	COL4A4 (G240E)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 625777	GRCh37/hg19 2q36.3(chr2:227939002-227943108)	COL4A4	Copy number loss	Specific language impairment 5	GPathogenic
Select item 599227	NM_000092.5(COL4A4):c.903dup (p.Gly302fs)	COL4A4 (G302fs)	Duplication (frameshift variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 591641	NM_000092.5(COL4A4):c.4412A>C (p.His1471Pro)	COL4A4 (H1471P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562451	NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs)	COL4A4 (G1439fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 562446	NM_000092.5(COL4A4):c.1623+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 562429	NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala)	COL4A4 (G1392A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562421	NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs)	COL4A4 (L1037fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 562413	NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter)	COL4A4 (E1477*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 562368	NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter)	COL4A4 (Q1590*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 562313	NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu)	COL4A4 (G843E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562285	NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val)	COL4A4 (G957V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 255045	NM_000092.5(COL4A4):c.99A>T (p.Val33=)	COL4A4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47