"GCSH-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 462904	NM_004483.5(GCSH):c.292+9T>G	GCSH	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 265683	NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)	GCSH (Q76*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3032946	NM_004483.5(GCSH):c.141G>A (p.Leu47=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 3030410	NM_004483.5(GCSH):c.99G>A (p.Leu33=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 531790	NM_004483.5(GCSH):c.84G>A (p.Pro28=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder +2 more	GBenign/Likely benign
Select item 699808	NM_004483.5(GCSH):c.72G>T (p.Ala24=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +1 more	GLikely benign
Select item 1164317	NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)	GCSH, LOC130059495 (S21L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 3055057	NM_004483.5(GCSH):c.51C>T (p.Arg17=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 3048997	NM_004483.5(GCSH):c.42C>T (p.Cys14=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 265685	NM_004483.5(GCSH):c.1A>G (p.Met1Val)	GCSH, LOC130059495 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 808113	NM_004483.5(GCSH):c.-4G>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	GCSH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3035656	NM_004483.5(GCSH):c.-9C>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	GCSH-related disorder	GLikely benign