"Ambry Genetics"[submitter] AND "PEF1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2247130	NM_012392.4(PEF1):c.829A>G (p.Thr277Ala)	HCRTR1, PEF1 (T207A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261461	NM_012392.4(PEF1):c.788C>A (p.Ala263Asp)	HCRTR1, PEF1 (A263D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375342	NM_012392.4(PEF1):c.773G>A (p.Arg258Gln)	HCRTR1, PEF1 (R188Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211330	NM_012392.4(PEF1):c.712A>G (p.Met238Val)	HCRTR1, PEF1 (M168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550238	NM_012392.4(PEF1):c.694C>T (p.Arg232Cys)	HCRTR1, PEF1 (R162C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388674	NM_012392.4(PEF1):c.683G>A (p.Arg228His)	HCRTR1, PEF1 (R228H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361812	NM_012392.4(PEF1):c.601A>G (p.Ile201Val)	HCRTR1, PEF1 (I201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387541	NM_012392.4(PEF1):c.584G>A (p.Arg195Gln)	HCRTR1, PEF1 (R195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465262	NM_012392.4(PEF1):c.521A>G (p.Tyr174Cys)	HCRTR1, PEF1 (Y104C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211329	NM_012392.4(PEF1):c.509G>A (p.Arg170His)	HCRTR1, PEF1 (R100H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211328	NM_012392.4(PEF1):c.440A>G (p.Asn147Ser)	HCRTR1, PEF1 (N147S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211327	NM_012392.4(PEF1):c.419A>G (p.Lys140Arg)	HCRTR1, PEF1 (K140R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321770	NM_012392.4(PEF1):c.398A>G (p.Tyr133Cys)	HCRTR1, PEF1 (Y63C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261130	NM_012392.4(PEF1):c.383C>T (p.Ser128Leu)	HCRTR1, PEF1 (S128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379260	NM_012392.4(PEF1):c.372G>T (p.Gln124His)	HCRTR1, PEF1 (Q124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211324	NM_012392.4(PEF1):c.334C>T (p.Pro112Ser)	HCRTR1, PEF1 (P112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211323	NM_012392.4(PEF1):c.191A>T (p.Tyr64Phe)	PEF1 (Y64F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3211322	NM_012392.4(PEF1):c.166G>A (p.Gly56Arg)	PEF1 (G56R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2231237	NM_012392.4(PEF1):c.124C>G (p.Pro42Ala)	PEF1 (P42A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance