"PreventionGenetics, part of Exact Sciences"[submitter] AND "UVSSA"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044630	NM_020894.4(UVSSA):c.123C>T (p.Arg41=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GBenign
Select item 3042840	NM_020894.4(UVSSA):c.303C>T (p.Pro101=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GLikely benign
Select item 3052599	NM_020894.4(UVSSA):c.551-6C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder	GLikely benign
Select item 3055793	NM_020894.4(UVSSA):c.636G>A (p.Pro212=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GBenign
Select item 3040915	NM_020894.4(UVSSA):c.900G>A (p.Ser300=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GLikely benign
Select item 3034387	NM_020894.4(UVSSA):c.1048-10C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder	GLikely benign
Select item 719090	NM_020894.4(UVSSA):c.1048-4G>A	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder +1 more	GBenign/Likely benign
Select item 3040176	NM_020894.4(UVSSA):c.1130A>G (p.Lys377Arg)	UVSSA (K377R)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GLikely benign
Select item 1879600	NM_020894.4(UVSSA):c.1149C>T (p.Ile383=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder +1 more	GLikely benign
Select item 3059863	NM_020894.4(UVSSA):c.1172G>A (p.Arg391His)	UVSSA (R391H)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GBenign
Select item 3041833	NM_020894.4(UVSSA):c.1213G>A (p.Asp405Asn)	UVSSA (D405N)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GLikely benign
Select item 3053320	NM_020894.4(UVSSA):c.1394G>A (p.Arg465Gln)	UVSSA (R465Q)	Single nucleotide variant (missense variant)	UVSSA-related disorder	GLikely benign
Select item 3058857	NM_020894.4(UVSSA):c.1497G>A (p.Ala499=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related disorder	GBenign
Select item 3053228	NM_020894.4(UVSSA):c.1753-10C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related disorder	GLikely benign