"PreventionGenetics, part of Exact Sciences"[submitter] AND "HGSNAT"[g - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363137	NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 1134433	NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	HGSNAT-related condition +2 more	GLikely benign
Select item 2629318	NM_152419.3(HGSNAT):c.416dup (p.Asn141fs)	HGSNAT (N141fs)	Duplication (frameshift variant +1 more)	HGSNAT-related condition	GLikely pathogenic
Select item 262647	NM_152419.3(HGSNAT):c.493+46G>T	HGSNAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 785726	NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)	HGSNAT (T230M)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +3 more	GBenign/Likely benign
Select item 709436	NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1140957	NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	HGSNAT-related condition +2 more	GLikely benign
Select item 840384	NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)	HGSNAT (S296L +1 more)	Single nucleotide variant (missense variant +1 more)	HGSNAT-related condition +2 more	GUncertain significance
Select item 208817	NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)	HGSNAT (W403C +2 more)	Single nucleotide variant (missense variant)	HGSNAT-related condition +2 more	GUncertain significance
Select item 719495	NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)	HGSNAT (T129I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 96501	NM_152419.3(HGSNAT):c.1377+20G>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +3 more	GBenign
Select item 3048483	NM_152419.3(HGSNAT):c.1465-473T>C	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	HGSNAT-related condition	GLikely benign
Select item 750655	NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=)	HGSNAT	Single nucleotide variant (synonymous variant)	HGSNAT-related condition +2 more	GLikely benign
Select item 96503	NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +3 more	GBenign
Select item 720156	NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GLikely benign
Select item 719496	NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)	HGSNAT (E523K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 208816	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT (A615T +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +6 more	GConflicting classifications of pathogenicity
Select item 3039246	NM_152419.3(HGSNAT):c.*8C>T	HGSNAT	Single nucleotide variant (3 prime UTR variant)	HGSNAT-related condition	GLikely benign