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

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 1297418	NM_007272.3(CTRC):c.40+175C>A	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260105	NM_007272.3(CTRC):c.41-178A>T	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 292908	NM_007272.3(CTRC):c.156C>T (p.Asn52=)	CTRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 260156	NM_007272.3(CTRC):c.180C>T (p.Gly60=)	CTRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 240763	NM_007272.3(CTRC):c.180C>A (p.Gly60=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 439569	NM_007272.3(CTRC):c.230+38C>T	CTRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1270840	NM_007272.3(CTRC):c.231-210A>G	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260157	NM_007272.3(CTRC):c.285C>T (p.Asp95=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 439571	NM_007272.3(CTRC):c.356+71G>A	CTRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1318398	NM_007272.3(CTRC):c.357-70G>A	CTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439567	NM_007272.3(CTRC):c.493+49G>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GBenign
Select item 439565	NM_007272.3(CTRC):c.493+51C>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GBenign
Select item 439564	NM_007272.3(CTRC):c.493+52G>A	CTRC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1317872	NM_007272.3(CTRC):c.493+185G>C	CTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260158	NM_007272.3(CTRC):c.514A>G (p.Lys172Glu)	CTRC (K172E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 240765	NM_007272.3(CTRC):c.533A>G (p.Gln178Arg)	CTRC (Q178R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 1316336	NM_007272.3(CTRC):c.639+172G>A	CTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320554	NM_007272.3(CTRC):c.640-251A>C	CTRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439563	NM_007272.3(CTRC):c.640-35G>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GBenign
Select item 430258	NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	CTRC (G217S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420177	NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)	CTRC (G217R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 240766	NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)	CTRC (E225A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 292913	NM_007272.3(CTRC):c.690G>A (p.Glu230=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GBenign
Select item 1225298	NM_007272.3(CTRC):c.793-137A>G	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297433	NM_007272.3(CTRC):c.793-71G>A	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368835	NM_007272.3(CTRC):c.*83T>C	CTRC	Single nucleotide variant (3 prime UTR variant)	Hereditary pancreatitis +1 more	GBenign
Select item 1283221	NM_007272.3(CTRC):c.*86A>G	CTRC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253681	GRCh37/hg19 1p36.21(chr1:15334318-15771284)x3	FHAD1, KAZN +3 more	Copy number gain	See cases	GUncertain significance

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Items: 34