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Items: 5

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:175612905
GRCh38:
Chr2:174748177
CHRNA1G441R, G466RSeizures, Autism, not provided,
Lethal multiple pterygium syndrome
Pathogenic/Likely pathogenic
(Mar 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000449923
2.
GRCh37:
Chr2:227954647
GRCh38:
Chr2:227089931
COL4A4G466Rnot providedPathogenic
(Aug 31, 2016)
criteria provided, single submitterVCV000447180
3.
GRCh37:
Chr4:55592072
GRCh38:
Chr4:54725906
KITG466RGastrointestinal stroma tumorUncertain significance
(Dec 8, 2017)
criteria provided, single submitterVCV000528516
4.
GRCh37:
Chr7:140481412
GRCh38:
Chr7:140781612
BRAFG466RNon-small cell lung cancer, Ovarian NeoplasmsLikely pathogenic
(Aug 20, 2010)
criteria provided, single submitterVCV000044801
5.
GRCh37:
Chr9:103015350
GRCh38:
Chr9:100253068
INVSG466RNephronophthisisUncertain significance
(Apr 20, 2017)
criteria provided, single submitterVCV000462709
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