"PreventionGenetics, part of Exact Sciences"[submitter] AND "PTCD3"[ge - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040310	NM_017952.6(PTCD3):c.31G>T (p.Gly11Cys)	PTCD3 (G11C)	Single nucleotide variant (missense variant)	PTCD3-related disorder	GLikely benign
Select item 3035812	NM_017952.6(PTCD3):c.654+4A>G	PTCD3	Single nucleotide variant (intron variant)	PTCD3-related disorder	GLikely benign
Select item 3043848	NM_017952.6(PTCD3):c.716+4T>G	PTCD3	Single nucleotide variant (intron variant)	PTCD3-related disorder	GLikely benign
Select item 2629227	NM_017952.6(PTCD3):c.1148-2A>G	PTCD3	Single nucleotide variant (splice acceptor variant)	PTCD3-related disorder	GLikely pathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File