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Links from MedGen

Items: 4

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:84567020
GRCh38:
Chr6:83857301
RIPPLY2, RIPPLY2-CYB5R4L100fsKlippel-Feil syndrome 2, autosomal recessiveLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr17:41738653
GRCh38:
Chr17:43661285
MEOX1Q84*Klippel-Feil syndrome 2, autosomal recessivePathogenic
(Sep 28, 2013)
no assertion criteria provided
3.
GRCh37:
Chr17:41719379
GRCh38:
Chr17:43642011
MEOX1R222*, P164L, R107*Klippel-Feil syndrome 2, autosomal recessivePathogenic
(Jan 10, 2013)
no assertion criteria provided
4.
GRCh37:
Chr17:41738809
GRCh38:
Chr17:43661441
MEOX1A32fsKlippel-Feil syndrome 2, autosomal recessivePathogenic
(Jan 10, 2013)
no assertion criteria provided
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