"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 807563	NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)	COL4A3, MFF-DT (Y117*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1804092	NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)	COL4A3, MFF-DT (G124R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 807564	NM_000091.5(COL4A3):c.816dup (p.Pro273fs)	COL4A3, MFF-DT (P273fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 562427	NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	COL4A3, MFF-DT (G300R)	Single nucleotide variant (missense variant)	Benign familial hematuria +5 more	GConflicting classifications of pathogenicity
Select item 807565	NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)	COL4A3, MFF-DT (G395R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807566	NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg)	MFF-DT, COL4A3 (G430R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 932709	NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)	COL4A3, MFF-DT (G484R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 635483	NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)	MFF-DT, COL4A3 (G532C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 838332	NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)	COL4A3, MFF-DT (G557R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1804093	NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)	COL4A3, MFF-DT (G605V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 807567	NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)	COL4A3, MFF-DT (G611R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 813303	NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp)	COL4A3, MFF-DT (G674D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 976759	NM_000091.5(COL4A3):c.2126-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 552236	NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)	COL4A3, MFF-DT (G807fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1804094	NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)	COL4A3, MFF-DT (G853A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1804095	NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)	COL4A3, MFF-DT (G904E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 807389	NM_000091.5(COL4A3):c.2746+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome +1 more	GPathogenic
Select item 807390	NM_000091.5(COL4A3):c.2747-1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 1804096	NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)	COL4A3, MFF-DT (G955V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 17489	NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)	COL4A3, MFF-DT (G1015E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 554110	NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)	COL4A3, MFF-DT (R1037*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 553803	NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])	COL4A3, MFF-DT	Microsatellite (inframe_deletion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 556711	NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)	MFF-DT, COL4A3 (G1152R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 438655	NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)	COL4A3, MFF-DT	Duplication (inframe_insertion)	COL4A3-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 555905	NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	COL4A3, MFF-DT (G1277S)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	Alport syndrome +6 more	GConflicting classifications of pathogenicity
Select item 447174	NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)	COL4A3, MFF-DT (R1609*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 287915	NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	COL4A3, MFF-DT (R1661C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +6 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28