"Ambry Genetics"[submitter] AND "PAQR4"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2256838	NM_152341.5(PAQR4):c.8T>A (p.Phe3Tyr)	LOC130058285, PAQR4 (F3Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378675	NM_152341.5(PAQR4):c.65A>G (p.Asn22Ser)	PAQR4 (N22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330641	NM_152341.5(PAQR4):c.94G>A (p.Ala32Thr)	LOC130058286, PAQR4 (A32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373109	NM_152341.5(PAQR4):c.109G>A (p.Gly37Ser)	LOC130058286, PAQR4 (G37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208531	NM_152341.5(PAQR4):c.212C>T (p.Pro71Leu)	PAQR4 (P71L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388095	NM_152341.5(PAQR4):c.226G>C (p.Gly76Arg)	PAQR4 (G76R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335788	NM_152341.5(PAQR4):c.232G>T (p.Asp78Tyr)	PAQR4 (D78Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208532	NM_152341.5(PAQR4):c.340C>T (p.Arg114Trp)	PAQR4 (R75W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208533	NM_152341.5(PAQR4):c.370T>C (p.Cys124Arg)	PAQR4 (C124R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607714	NM_152341.5(PAQR4):c.383C>T (p.Thr128Ile)	PAQR4 (T89I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532565	NM_152341.5(PAQR4):c.440C>T (p.Pro147Leu)	PAQR4 (P73L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254363	NM_152341.5(PAQR4):c.481G>T (p.Gly161Cys)	PAQR4 (G161C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209050	NM_152341.5(PAQR4):c.487C>T (p.Arg163Cys)	PAQR4 (R163C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538489	NM_152341.5(PAQR4):c.502C>T (p.Pro168Ser)	PAQR4 (P129S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208535	NM_152341.5(PAQR4):c.524G>A (p.Arg175Gln)	PAQR4 (R108Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473499	NM_152341.5(PAQR4):c.547G>A (p.Ala183Thr)	PAQR4 (A116T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457213	NM_152341.5(PAQR4):c.627G>A (p.Met209Ile)	PAQR4 (M135I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570434	NM_152341.5(PAQR4):c.631G>A (p.Ala211Thr)	PAQR4 (A137T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619057	NM_152341.5(PAQR4):c.638C>T (p.Ala213Val)	PAQR4 (A139V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389625	NM_152341.5(PAQR4):c.667C>T (p.Arg223Cys)	PAQR4 (R184C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208536	NM_152341.5(PAQR4):c.668G>A (p.Arg223His)	PAQR4 (R149H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472853	NM_152341.5(PAQR4):c.694C>T (p.Arg232Cys)	PAQR4 (R158C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208537	NM_152341.5(PAQR4):c.741C>T (p.Ser247=)	PAQR4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3208538	NM_152341.5(PAQR4):c.765C>T (p.His255=)	PAQR4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2252269	NM_152341.5(PAQR4):c.766G>A (p.Ala256Thr)	PAQR4 (A256T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371960	NM_152341.5(PAQR4):c.775G>A (p.Val259Met)	PAQR4 (V192M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278951	NM_152341.5(PAQR4):c.784C>G (p.Leu262Val)	PAQR4 (L223V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606624	NM_152341.5(PAQR4):c.805G>A (p.Ala269Thr)	PAQR4 (A195T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213892	NM_004203.5(PKMYT1):c.1457G>A (p.Arg486Gln)	PAQR4, PKMYT1 (R417Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2350546	NM_004203.5(PKMYT1):c.1369C>T (p.Arg457Trp)	PAQR4, PKMYT1 (R457W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 30