"Invitae"[submitter] AND "PSMD1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789572	NM_002807.4(PSMD1):c.1072-3C>T	PSMD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 779323	NM_000867.5(HTR2B):c.1314C>T (p.Asn438=)	HTR2B, PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 791235	NM_000867.5(HTR2B):c.1261A>G (p.Met421Val)	HTR2B, PSMD1 (M379V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725269	NM_000867.5(HTR2B):c.834G>A (p.Pro278=)	HTR2B, PSMD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709655	NM_000867.5(HTR2B):c.622G>T (p.Val208Leu)	PSMD1, HTR2B (V166L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779324	NM_000867.5(HTR2B):c.152G>A (p.Gly51Glu)	HTR2B, PSMD1 (G9E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 791236	NM_000867.5(HTR2B):c.91T>C (p.Trp31Arg)	HTR2B, PSMD1 (W31R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 779325	NM_002807.4(PSMD1):c.2436A>G (p.Ala812=)	PSMD1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 779326	NM_002807.4(PSMD1):c.2482-9T>C	PSMD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance