"SNTG1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728154	NM_018967.5(SNTG1):c.76A>C (p.Lys26Gln)	SNTG1 (K26Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3045278	NM_018967.5(SNTG1):c.186A>G (p.Arg62=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3050595	NM_018967.5(SNTG1):c.250G>A (p.Val84Ile)	SNTG1 (V84I)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3050357	NM_018967.5(SNTG1):c.309T>C (p.Asp103=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3055929	NM_018967.5(SNTG1):c.361G>C (p.Val121Leu)	SNTG1 (V121L)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3031937	NM_018967.5(SNTG1):c.432T>C (p.Ala144=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3034214	NM_018967.5(SNTG1):c.633A>G (p.Leu211=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GBenign
Select item 3048491	NM_018967.5(SNTG1):c.642G>C (p.Ser214=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3040002	NM_018967.5(SNTG1):c.664G>A (p.Gly222Ser)	SNTG1 (G222S)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3033568	NM_018967.5(SNTG1):c.722C>G (p.Thr241Ser)	SNTG1 (T241S)	Single nucleotide variant (missense variant +1 more)	SNTG1-related disorder	GBenign
Select item 3057793	NM_018967.5(SNTG1):c.927C>T (p.Ala309=)	SNTG1	Single nucleotide variant (synonymous variant +1 more)	SNTG1-related disorder	GLikely benign
Select item 3051022	NM_018967.5(SNTG1):c.1191+3G>T	SNTG1	Single nucleotide variant (intron variant)	SNTG1-related disorder	GLikely benign
Select item 3034445	NM_018967.5(SNTG1):c.1284+25G>T	SNTG1	Single nucleotide variant (3 prime UTR variant +2 more)	SNTG1-related disorder	GBenign
Select item 3053436	NM_018967.5(SNTG1):c.1284+31T>C	SNTG1	Single nucleotide variant (3 prime UTR variant +2 more)	SNTG1-related disorder	GLikely benign
Select item 3039098	NM_018967.5(SNTG1):c.1285-6dup	SNTG1	Duplication (intron variant)	SNTG1-related disorder	GBenign
Select item 3045930	NM_018967.5(SNTG1):c.*4A>G	SNTG1	Single nucleotide variant (3 prime UTR variant +1 more)	SNTG1-related disorder	GLikely benign