"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2089293	NM_024664.4(PPCS):c.52C>T (p.Arg18Cys)	CCDC30, LOC129930343 +1 more (R18C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2022106	NM_024664.4(PPCS):c.57G>T (p.Trp19Cys)	CCDC30, LOC129930343 +1 more (W19C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1377509	NM_024664.4(PPCS):c.64G>A (p.Val22Ile)	CCDC30, LOC129930343 +1 more (V22I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1465586	NM_024664.4(PPCS):c.65T>C (p.Val22Ala)	CCDC30, LOC129930343 +1 more (V22A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1970743	NM_024664.4(PPCS):c.66T>C (p.Val22=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1988211	NM_024664.4(PPCS):c.72T>C (p.Ala24=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2780798	NM_024664.4(PPCS):c.81G>C (p.Ala27=)	PPCS, CCDC30 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1536013	NM_024664.4(PPCS):c.84C>G (p.Ala28=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2845538	NM_024664.4(PPCS):c.85A>C (p.Arg29=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2121056	NM_024664.4(PPCS):c.88C>A (p.Leu30Met)	CCDC30, LOC129930343 +1 more (L30M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2055041	NM_024664.4(PPCS):c.88C>T (p.Leu30=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1977923	NM_024664.4(PPCS):c.89T>A (p.Leu30Gln)	CCDC30, LOC129930343 +1 more (L30Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1352139	NM_024664.4(PPCS):c.95C>T (p.Ala32Val)	CCDC30, LOC129930343 +1 more (A32V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2999833	NM_024664.4(PPCS):c.102C>T (p.Gly34=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2811058	NM_024664.4(PPCS):c.105G>A (p.Arg35=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2117759	NM_024664.4(PPCS):c.109G>C (p.Val37Leu)	CCDC30, LOC129930343 +1 more (V37L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1585682	NM_024664.4(PPCS):c.111G>C (p.Val37=)	CCDC30, LOC129930343 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign