ClinVar for MedGen (Select 1648431) - ClinVar

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

Links from MedGen

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443347	NM_005639.3(SYT1):c.1049T>A (p.Phe350Tyr)	SYT1 (F347Y +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 2436916	NM_005639.3(SYT1):c.520A>G (p.Met174Val)	SYT1 (M171V +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1878431	NM_005639.3(SYT1):c.551T>C (p.Val184Ala)	SYT1 (V181A +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1709375	NM_005639.3(SYT1):c.920G>A (p.Gly307Asp)	SYT1 (G304D +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1705448	NM_005639.3(SYT1):c.1101_1103dup (p.Lys367_Ile368insMet)	SYT1	Duplication (inframe_insertion)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1687146	NM_005639.3(SYT1):c.1076T>C (p.Val359Ala)	SYT1 (V356A +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1686243	NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)	SYT1 (S306F +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GPathogenic/Likely pathogenic
Select item 1334917	NM_005639.3(SYT1):c.474+3C>A	SYT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1334916	NM_005639.3(SYT1):c.75C>T (p.Asn25=)	SYT1	Single nucleotide variant (synonymous variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GBenign
Select item 1333789	NM_005639.3(SYT1):c.1043T>C (p.Val348Ala)	SYT1 (V345A +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1333603	NM_005639.3(SYT1):c.1114G>A (p.Asp372Asn)	SYT1 (D369N +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GUncertain significance
Select item 1297049	NM_005639.3(SYT1):c.928G>A (p.Asp310Asn)	SYT1 (D307N +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 1164047	NM_005639.3(SYT1):c.1198C>T (p.Arg400Ter)	SYT1 (R397* +1 more)	Single nucleotide variant (nonsense)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GPathogenic
Select item 1012827	NM_005639.3(SYT1):c.845G>A (p.Arg282His)	SYT1 (R279H +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 828098	NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup)	SYT1	Duplication (inframe_insertion)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	GLikely pathogenic
Select item 590281	NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys)	SYT1 (N371K +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 590280	NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)	SYT1 (D366E +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 590279	NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)	SYT1 (D304G +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 590278	NM_005639.3(SYT1):c.908T>A (p.Met303Lys)	SYT1 (M303K +1 more)	Single nucleotide variant (missense variant)	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 431484	NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)	SYT1 (I365T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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: 20