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Links from OMIM

Items: 6

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:10184641
GRCh38:
Chr3:10142957
LOC107303340, VHLS179PChuvash polycythemia, Von Hippel-Lindau syndromeLikely pathogenic
(Dec 5, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr2:96953697
GRCh38:
Chr2:96287959
SNRNP200R1090LRetinitis pigmentosa 33Pathogenic
(Mar 1, 2014)
no assertion criteria provided
3.
GRCh37:
Chr4:187201626
GRCh38:
Chr4:186280472
F11Hereditary factor XI deficiency diseasePathogenic
(Mar 15, 1995)
no assertion criteria provided
4.
GRCh37:
ChrX:153764383
GRCh38:
ChrX:154536168
G6PDA44G, A74GAnemia, nonspherocytic hemolytic, due to G6PD deficiency, not providedPathogenic
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
5.
ABCA1Tangier diseasePathogenic
(Jan 1, 2002)
no assertion criteria provided
6.
GRCh37:
Chr2:96953706
GRCh38:
Chr2:96287968
SNRNP200S1087LRetinal dystrophy, not provided, Retinitis pigmentosa 33
Pathogenic
(Dec 15, 2021)
criteria provided, multiple submitters, no conflicts
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