"SCLT1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713147	NM_144643.4(SCLT1):c.1830-5A>G	SCLT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 731593	NM_144643.4(SCLT1):c.1746G>A (p.Ala582=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1165524	NM_144643.4(SCLT1):c.1704C>T (p.Asp568=)	SCLT1	Single nucleotide variant (synonymous variant)	SCLT1-related disorder +1 more	GBenign
Select item 770155	NM_144643.4(SCLT1):c.1508G>A (p.Arg503Lys)	SCLT1 (R503K)	Single nucleotide variant (missense variant)	SCLT1-related disorder +1 more	GBenign
Select item 1164109	NM_144643.4(SCLT1):c.1293+3dup	SCLT1	Duplication (intron variant)	SCLT1-related disorder +1 more	GBenign/Likely benign
Select item 1164497	NM_144643.4(SCLT1):c.1062G>C (p.Glu354Asp)	SCLT1 (E354D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 771146	NM_144643.4(SCLT1):c.768G>T (p.Met256Ile)	SCLT1 (M256I)	Single nucleotide variant (missense variant)	SCLT1-related disorder +1 more	GBenign
Select item 1166297	NM_144643.4(SCLT1):c.663C>T (p.Ile221=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1560845	NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)	SCLT1 (T213I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 777805	NM_144643.4(SCLT1):c.312T>A (p.Asp104Glu)	SCLT1 (D104E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3056903	NM_144643.4(SCLT1):c.290+999C>T	SCLT1	Single nucleotide variant (synonymous variant +1 more)	SCLT1-related disorder	GBenign
Select item 3055767	NM_144643.4(SCLT1):c.290+907dup	SCLT1	Duplication (intron variant)	SCLT1-related disorder	GLikely benign
Select item 3056575	NM_144643.4(SCLT1):c.290+907del	SCLT1	Deletion (intron variant)	SCLT1-related disorder	GLikely benign
Select item 731594	NM_144643.4(SCLT1):c.108T>C (p.Ala36=)	SCLT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign