"GeneDx"[submitter] AND "PRKD1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 2574529	NM_002742.3(PRKD1):c.2498C>A (p.Thr833Asn)	PRKD1 (T745N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327446	NM_002742.3(PRKD1):c.2202T>C (p.Ile734=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1712698	NM_002742.3(PRKD1):c.2173C>T (p.Leu725Phe)	PRKD1 (L637F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327447	NM_002742.3(PRKD1):c.2167-12T>A	PRKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2502023	NM_002742.3(PRKD1):c.2015C>T (p.Ser672Leu)	PRKD1 (S584L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446294	NM_002742.3(PRKD1):c.1923TGT[1] (p.Val643del)	PRKD1 (V555del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3368509	NM_002742.3(PRKD1):c.1857dup (p.Pro620fs)	PRKD1 (P532fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2572890	NM_002742.3(PRKD1):c.1792T>G (p.Tyr598Asp)	PRKD1 (Y510D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372243	NM_002742.3(PRKD1):c.1670A>T (p.His557Leu)	PRKD1 (H469L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788801	NM_002742.3(PRKD1):c.1356C>T (p.Thr452=)	PRKD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1700921	NM_002742.3(PRKD1):c.1213C>G (p.Pro405Ala)	PRKD1 (P317A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343819	NM_002742.3(PRKD1):c.604_607dup (p.Arg203fs)	PRKD1 (R107fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3372442	NM_002742.3(PRKD1):c.565G>C (p.Ala189Pro)	PRKD1 (A189P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443445	NM_002742.3(PRKD1):c.433C>T (p.Arg145Cys)	PRKD1 (R145C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329778	NM_002742.3(PRKD1):c.305T>C (p.Leu102Pro)	PRKD1 (L102P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305040	NM_002742.3(PRKD1):c.271G>A (p.Glu91Lys)	PRKD1 (E91K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364655	NM_002742.3(PRKD1):c.267C>A (p.Phe89Leu)	PRKD1 (F89L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278058	NM_002742.3(PRKD1):c.265-19A>G	PRKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1803308	NM_002742.3(PRKD1):c.208G>C (p.Gly70Arg)	PRKD1 (G70R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359652	NM_002742.3(PRKD1):c.2071C>T (p.Leu691Phe)	PRKD1 (L603F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 21