"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475068	NM_015450.3(POT1):c.1884A>C (p.Thr628=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 541877	NM_015450.3(POT1):c.1864T>C (p.Tyr622His)	POT1 (Y622H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1473350	NM_015450.3(POT1):c.1805G>T (p.Trp602Leu)	POT1 (W471L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 475062	NM_015450.3(POT1):c.1803G>A (p.Pro601=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 847785	NM_015450.3(POT1):c.1765A>G (p.Met589Val)	POT1 (M458V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1524748	NM_015450.3(POT1):c.1746T>G (p.Ser582Arg)	POT1 (S582R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 475057	NM_015450.3(POT1):c.1687-5T>A	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3 +3 more	GBenign
Select item 1120748	NM_015450.3(POT1):c.1656A>C (p.Thr552=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1776393	NM_015450.3(POT1):c.1611C>G (p.Pro537=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1019856	NM_015450.3(POT1):c.1523G>A (p.Ser508Asn)	POT1 (S377N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 574289	NM_015450.3(POT1):c.1442A>G (p.Glu481Gly)	POT1 (E481G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 486141	NM_015450.3(POT1):c.1441G>A (p.Glu481Lys)	POT1 (E481K +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1597127	NM_015450.3(POT1):c.1434T>C (p.Ser478=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +3 more	GLikely benign
Select item 475044	NM_015450.3(POT1):c.1416T>G (p.Ser472Arg)	POT1 (S472R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 819078	NM_015450.3(POT1):c.1394A>G (p.Lys465Arg)	POT1 (K334R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 854098	NM_015450.3(POT1):c.1369+6A>G	POT1	Single nucleotide variant (intron variant)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 475037	NM_015450.3(POT1):c.1338G>A (p.Pro446=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 541902	NM_015450.3(POT1):c.1283A>G (p.Asn428Ser)	POT1 (N428S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 436388	NM_015450.3(POT1):c.1228G>C (p.Asp410His)	POT1 (D410H +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 818618	NM_015450.3(POT1):c.1217C>T (p.Thr406Ile)	POT1 (T406I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 475029	NM_015450.3(POT1):c.1211G>T (p.Gly404Val)	POT1 (G404V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 574290	NM_015450.3(POT1):c.1163+1G>A	POT1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1021929	NM_015450.3(POT1):c.992A>G (p.Gln331Arg)	POT1 (Q200R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 823207	NM_015450.3(POT1):c.939C>T (p.Asp313=)	POT1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 475114	NM_015450.3(POT1):c.924A>G (p.Gln308=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 475112	NM_015450.3(POT1):c.903G>T (p.Gln301His)	POT1 (Q301H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 855212	NM_015450.3(POT1):c.896C>T (p.Ala299Val)	POT1 (A168V +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1038839	NM_015450.3(POT1):c.853G>A (p.Val285Met)	POT1 (V285M +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 822490	NM_015450.3(POT1):c.847T>G (p.Ser283Ala)	POT1 (S283A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 475100	NM_015450.3(POT1):c.751A>G (p.Met251Val)	POT1 (M251V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 139527	NM_015450.3(POT1):c.670G>A (p.Asp224Asn)	POT1 (D224N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1416364	NM_015450.3(POT1):c.652A>C (p.Ile218Leu)	POT1 (I87L +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2193888	NM_015450.3(POT1):c.605T>C (p.Val202Ala)	POT1 (V202A +1 more)	Single nucleotide variant (missense variant +1 more)	Tumor predisposition syndrome 3 +1 more	GUncertain significance
Select item 2682051	NM_015450.3(POT1):c.597A>C (p.Gln199His)	POT1 (Q199H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 825762	NM_015450.3(POT1):c.547G>A (p.Val183Ile)	POT1 (V52I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 705354	NM_015450.3(POT1):c.525C>T (p.Asp175=)	POT1	Single nucleotide variant (synonymous variant +1 more)	Tumor predisposition syndrome 3 +2 more	GLikely benign
Select item 1809571	NM_015450.3(POT1):c.389A>G (p.His130Arg)	POT1 (H130R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 486131	NM_015450.3(POT1):c.340A>G (p.Ile114Val)	POT1 (I114V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1568699	NM_015450.3(POT1):c.306A>G (p.Ala102=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3 +2 more	GLikely benign
Select item 475073	NM_015450.3(POT1):c.233T>C (p.Ile78Thr)	POT1 (I78T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 822750	NM_015450.3(POT1):c.87G>C (p.Val29=)	POT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 475098	NM_015450.3(POT1):c.73G>A (p.Val25Ile)	POT1 (V25I)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1013648	NM_015450.3(POT1):c.44A>G (p.Asn15Ser)	POT1 (N15S)	Single nucleotide variant (5 prime UTR variant +2 more)	Tumor predisposition syndrome 3 +2 more	GUncertain significance
Select item 1808415	GRCh37/hg19 7q31.33(chr7:123909741-124546250)x1	GPR37, POT1	Copy number loss	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563402	GRCh37/hg19 7q31.33(chr7:123998670-125770830)x1	POT1, GPR37	Copy number loss	not provided	GUncertain significance

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Items: 47