ClinVar (all) for Orgtrack (Select 505885) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992628	NM_199334.5(THRA):c.518A>G (p.Glu173Gly)	THRA (E173G)	Single nucleotide variant (missense variant)	Congenital nongoitrous hypothyroidism 6	GLikely pathogenic
Select item 988586	NM_020971.3(SPTBN4):c.1249del (p.Leu417fs)	SPTBN4 (L417fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 987747	NM_020971.3(SPTBN4):c.737G>C (p.Arg246Pro)	SPTBN4 (R246P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 987746	NM_020971.3(SPTBN4):c.1149dup (p.Asn384fs)	SPTBN4 (N384fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 987745	NM_020971.3(SPTBN4):c.3375_3393del (p.Asp1126fs)	SPTBN4 (D1126fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 984952	NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro)	HERC1 (R4691P)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
Select item 870572	NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys)	CHD8 (R299C +1 more)	Single nucleotide variant (missense variant)	Fatigable weakness +5 more	GConflicting classifications of pathogenicity
Select item 375254	NM_020971.3(SPTBN4):c.1597C>T (p.Gln533Ter)	SPTBN4 (Q533*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 252961	NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	HGSNAT (G173D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +3 more	GPathogenic