ClinVar for MedGen (Select 906044) - ClinVar

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

Links from MedGen

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523237	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Severe global developmental delay +7 more	GPathogenic
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 369034	NM_001845.5(COL4A1):c.*1404T>C	COL4A1	Single nucleotide variant	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GLikely benign
Select item 311204	NM_001846.4(COL4A2):c.413_414del	COL4A2	Deletion (3 prime UTR variant)	Porencephalic cyst	GUncertain significance
Select item 311201	NM_001846.4(COL4A2):c.101_102del	COL4A2	Deletion (3 prime UTR variant)	Porencephalic cyst +1 more	GBenign
Select item 311197	NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 311170	NM_001846.4(COL4A2):c.4040-11_4040-8del	COL4A2, COL4A2-AS1	Microsatellite (intron variant)	Porencephalic cyst	GUncertain significance
Select item 311146	NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser)	COL4A2 (P773S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311114	NM_001846.4(COL4A2):c.907C>T (p.Leu303=)	COL4A2	Single nucleotide variant (synonymous variant)	Porencephalic cyst	GUncertain significance
Select item 311094	NM_001846.4(COL4A2):c.-101G>A	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GLikely benign
Select item 311093	NM_001846.4(COL4A2):c.-133A>G	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign
Select item 311092	NM_001846.4(COL4A2):c.-203T>C	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2 +4 more	GBenign
Select item 311091	NM_001846.4(COL4A2):c.-215C>T	COL4A2, COL4A1	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign
Select item 311090	NM_001846.4(COL4A2):c.-232C>G	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Porencephaly 2 +4 more	GBenign
Select item 311089	NM_001846.4(COL4A2):c.-277A>C	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign
Select item 311088	NM_001845.6(COL4A1):c.-103G>A	COL4A1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GConflicting classifications of pathogenicity
Select item 311087	NM_001845.6(COL4A1):c.-90G>T	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 311086	NM_001845.6(COL4A1):c.-71C>G	COL4A1	Single nucleotide variant (5 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 311085	NM_001845.6(COL4A1):c.-20G>T	COL4A1	Single nucleotide variant (5 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 311084	NM_001845.6(COL4A1):c.-13C>G	COL4A1, COL4A2	Single nucleotide variant (5 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GLikely benign
Select item 311083	NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)	COL4A1 (K28E)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 311082	NM_001845.6(COL4A1):c.280-12C>T	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311081	NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)	COL4A1 (I110T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 311079	NM_001845.6(COL4A1):c.388-11T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311077	NM_001845.6(COL4A1):c.501C>T (p.Pro167=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign/Likely benign
Select item 311075	NM_001845.6(COL4A1):c.651+4_651+5insCAC	COL4A1	Insertion (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign/Likely benign
Select item 311072	NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala)	COL4A1 (T256A)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 311068	NM_001845.6(COL4A1):c.958-9C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 311067	NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)	COL4A1 (G332R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311065	NM_001845.6(COL4A1):c.1000-5T>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GBenign/Likely benign
Select item 311062	NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val)	COL4A1 (A558V)	Single nucleotide variant (missense variant)	COL4A1-related disorder +4 more	GBenign/Likely benign
Select item 311061	NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)	COL4A1 (A620P)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311058	NM_001845.6(COL4A1):c.2103C>T (p.Asp701=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 311056	NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)	COL4A1 (P709L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311055	NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311052	NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)	COL4A1 (P875R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311051	NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)	COL4A1 (V883I)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign/Likely benign
Select item 311050	NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GUncertain significance
Select item 311049	NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)	COL4A1 (P911L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 311047	NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)	COL4A1 (Q985H)	Single nucleotide variant (missense variant)	COL4A1-related disorder +4 more	GBenign/Likely benign
Select item 311046	NM_001845.6(COL4A1):c.2968+12A>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311045	NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GUncertain significance
Select item 311044	NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)	COL4A1 (P1055L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311040	NM_001845.6(COL4A1):c.3326-13dup	COL4A1	Duplication (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +8 more	GBenign/Likely benign
Select item 311036	NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)	COL4A1 (M1212L)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GConflicting classifications of pathogenicity
Select item 311035	NM_001845.6(COL4A1):c.3742+14G>A	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311032	NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +7 more	GBenign/Likely benign
Select item 311029	NM_001845.6(COL4A1):c.4021+14T>A	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 311027	NM_001845.6(COL4A1):c.4150+3G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 311026	NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)	COL4A1 (M1410T)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign/Likely benign
Select item 311025	NM_001845.6(COL4A1):c.4250-12C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 311019	NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 311018	NM_001845.6(COL4A1):c.*6C>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 311016	NM_001845.6(COL4A1):c.*176A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GBenign/Likely benign
Select item 311015	NM_001845.6(COL4A1):c.*265A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 311014	NM_001845.6(COL4A1):c.*477G>T	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 311013	NM_001845.6(COL4A1):c.*510A>G	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 311012	NM_001845.6(COL4A1):c.*531T>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 311011	NM_001845.6(COL4A1):c.*587C>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign
Select item 311009	NM_001845.6(COL4A1):c.*634AT[8]	COL4A1	Microsatellite (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GUncertain significance
Select item 311008	NM_001845.6(COL4A1):c.*766G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign/Likely benign
Select item 311007	NM_001845.6(COL4A1):c.*887del	COL4A1	Deletion (3 prime UTR variant)	Porencephalic cyst +2 more	GUncertain significance
Select item 311003	NM_001845.6(COL4A1):c.*1099G>A	COL4A1	Single nucleotide variant (3 prime UTR variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 258265	NM_001845.6(COL4A1):c.859-10T>C	COL4A1	Single nucleotide variant (intron variant)	Porencephalic cyst +4 more	GBenign
Select item 258264	NM_001845.6(COL4A1):c.85-11T>C	COL4A1	Single nucleotide variant (intron variant)	Porencephalic cyst +4 more	GBenign
Select item 258258	NM_001845.6(COL4A1):c.468+5ATTTT[2]	COL4A1	Microsatellite (intron variant)	Porencephalic cyst +4 more	GBenign
Select item 258257	NM_001845.6(COL4A1):c.4640+7C>T	COL4A1	Single nucleotide variant (intron variant)	Porencephalic cyst +4 more	GBenign
Select item 258255	NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GBenign
Select item 258254	NM_001845.6(COL4A1):c.432T>A (p.Ala144=)	COL4A1	Single nucleotide variant (synonymous variant)	Porencephalic cyst +4 more	GBenign
Select item 258253	NM_001845.6(COL4A1):c.3877-9C>T	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +4 more	GBenign
Select item 258247	NM_001845.6(COL4A1):c.1663= (p.Pro555=)	COL4A1	Single nucleotide variant (no sequence alteration)	Porencephalic cyst +4 more	GBenign
Select item 197520	NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)	COL4A1 (Q1334H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 196328	NM_001845.6(COL4A1):c.234+8C>T	COL4A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 195950	NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 195868	NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)	COL4A1 (P530S)	Single nucleotide variant (missense variant)	COL4A1-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 195811	NM_001845.6(COL4A1):c.1466-6C>T	COL4A1	Single nucleotide variant (intron variant)	COL4A1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 193216	NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)	COL4A1, COL4A2 (V7L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 77