"Ambry Genetics"[submitter] AND "PAQR6"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2555688	NM_198406.3(PAQR6):c.*240G>C	PAQR6 (R203T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208544	NM_198406.3(PAQR6):c.*219G>T	PAQR6 (G196V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208553	NM_198406.3(PAQR6):c.*59G>C	PAQR6 (E143Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2255157	NM_198406.3(PAQR6):c.*47A>G	PAQR6 (S139G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550685	NM_198406.3(PAQR6):c.1025A>C (p.Lys342Thr)	PAQR6 (K236T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550684	NM_198406.3(PAQR6):c.1024A>T (p.Lys342Ter)	PAQR6 (K339* +3 more)	Single nucleotide variant (nonsense +2 more)	not specified	GLikely benign
Select item 2319389	NM_198406.3(PAQR6):c.957C>A (p.Thr319=)	PAQR6 (P169H +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3208549	NM_198406.3(PAQR6):c.830C>T (p.Ala277Val)	PAQR6 (A171V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2331671	NM_198406.3(PAQR6):c.826C>G (p.Leu276Val)	PAQR6 (C53W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348633	NM_198406.3(PAQR6):c.760+60A>G	PAQR6 (R100G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298971	NM_198406.3(PAQR6):c.760+57C>T	PAQR6 (H99Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539185	NM_198406.3(PAQR6):c.760+24C>T	PAQR6 (R156W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472917	NM_198406.3(PAQR6):c.760+19C>T	PAQR6 (P86L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377091	NM_198406.3(PAQR6):c.731G>C (p.Arg244Thr)	PAQR6 (R138T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208548	NM_198406.3(PAQR6):c.722T>C (p.Leu241Pro)	PAQR6 (L238P +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2541356	NM_198406.3(PAQR6):c.689C>T (p.Ala230Val)	PAQR6 (A227V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318222	NM_198406.3(PAQR6):c.670G>A (p.Gly224Ser)	PAQR6 (G224S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2363463	NM_198406.3(PAQR6):c.629G>A (p.Arg210Lys)	PAQR6 (R210K +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208547	NM_198406.3(PAQR6):c.575C>G (p.Pro192Arg)	PAQR6 (P81R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208546	NM_198406.3(PAQR6):c.553C>T (p.Arg185Cys)	PAQR6 (R182C +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 3208545	NM_198406.3(PAQR6):c.550C>T (p.Leu184Phe)	PAQR6 (L181F +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2456984	NM_198406.3(PAQR6):c.424T>A (p.Ser142Thr)	LOC129931613, PAQR6 (S36T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2461066	NM_198406.3(PAQR6):c.407C>T (p.Ala136Val)	LOC129931613, PAQR6 (A30V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208552	NM_198406.3(PAQR6):c.398C>T (p.Pro133Leu)	PAQR6, LOC129931613 (P130L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208551	NM_198406.3(PAQR6):c.388T>C (p.Cys130Arg)	LOC129931613, PAQR6 (C127R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3208550	NM_198406.3(PAQR6):c.379A>G (p.Ser127Gly)	PAQR6 (S21G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance

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Items: 26