"GeneDx"[submitter] AND "PCYT2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 1267268	NM_002861.5(PCYT2):c.*105G>C	PCYT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1268709	NM_002861.5(PCYT2):c.*79C>T	PCYT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2429559	NM_002861.5(PCYT2):c.1133C>T (p.Ala378Val)	PCYT2 (A300V +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1248459	NM_002861.5(PCYT2):c.1059-4T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226315	NM_002861.5(PCYT2):c.1058+60G>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770274	NM_002861.5(PCYT2):c.1058+7T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3364807	NM_002861.5(PCYT2):c.1037T>A (p.Val346Asp)	PCYT2 (V268D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329483	NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser)	PCYT2 (G259S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2310188	NM_002861.5(PCYT2):c.836G>A (p.Arg279Gln)	PCYT2 (R201Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1263424	NM_002861.5(PCYT2):c.760-30C>T	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262850	NM_002861.5(PCYT2):c.677-5T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777258	NM_002861.5(PCYT2):c.558C>T (p.Pro186=)	PCYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1329485	NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys)	PCYT2 (N107K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1712594	NM_002861.5(PCYT2):c.537+311dup	PCYT2 (P126fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1261376	NM_002861.5(PCYT2):c.407+21T>C	PCYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700761	NM_002861.5(PCYT2):c.71G>C (p.Arg24Thr)	LOC130061984, PCYT2 (R24T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance