"Ambry Genetics"[submitter] AND "AGAP5"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094310	NM_001144000.4(AGAP5):c.2021A>C (p.Asn674Thr)	AGAP5, SYNPO2L-AS1 (N674T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2383678	NM_001144000.4(AGAP5):c.2003C>T (p.Ser668Phe)	AGAP5, SYNPO2L-AS1 (S668F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364171	NM_001144000.4(AGAP5):c.1994G>A (p.Arg665Gln)	AGAP5, SYNPO2L-AS1 (R665Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350448	NM_001144000.4(AGAP5):c.1990G>A (p.Ala664Thr)	AGAP5, SYNPO2L-AS1 (A664T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352743	NM_001144000.4(AGAP5):c.1985C>A (p.Thr662Asn)	AGAP5, SYNPO2L-AS1 (T662N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094289	NM_001144000.4(AGAP5):c.1979C>G (p.Ala660Gly)	AGAP5, SYNPO2L-AS1 (A660G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305926	NM_001144000.4(AGAP5):c.1869C>G (p.Asp623Glu)	AGAP5, SYNPO2L-AS1 (D623E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2385787	NM_001144000.4(AGAP5):c.1786G>A (p.Ala596Thr)	AGAP5, SYNPO2L-AS1 (A596T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350965	NM_001144000.4(AGAP5):c.1703G>A (p.Arg568His)	AGAP5, SYNPO2L-AS1 (R568H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204005	NM_001144000.4(AGAP5):c.1702C>T (p.Arg568Cys)	AGAP5, SYNPO2L-AS1 (R568C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094273	NM_001144000.4(AGAP5):c.1693C>T (p.Arg565Trp)	AGAP5, SYNPO2L-AS1 (R565W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094268	NM_001144000.4(AGAP5):c.1652A>G (p.Gln551Arg)	AGAP5, SYNPO2L-AS1 (Q551R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094260	NM_001144000.4(AGAP5):c.1625G>C (p.Ser542Thr)	AGAP5, SYNPO2L-AS1 (S542T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094256	NM_001144000.4(AGAP5):c.1525C>G (p.Leu509Val)	AGAP5, SYNPO2L-AS1 (L509V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2472720	NM_001144000.4(AGAP5):c.1523G>C (p.Ser508Thr)	AGAP5, SYNPO2L-AS1 (S508T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301226	NM_001144000.4(AGAP5):c.1345T>C (p.Cys449Arg)	AGAP5, SYNPO2L-AS1 (C449R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2253203	NM_001144000.4(AGAP5):c.1337T>C (p.Leu446Pro)	AGAP5, SYNPO2L-AS1 (L446P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094241	NM_001144000.4(AGAP5):c.1202A>C (p.Lys401Thr)	AGAP5 (K401T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352587	NM_001144000.4(AGAP5):c.1198A>C (p.Lys400Gln)	AGAP5 (K400Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281263	NM_001144000.4(AGAP5):c.1132A>T (p.Ser378Cys)	AGAP5 (S378C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2495201	NM_001144000.4(AGAP5):c.1117G>A (p.Asp373Asn)	AGAP5 (D373N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094223	NM_001144000.4(AGAP5):c.1022C>G (p.Pro341Arg)	AGAP5 (P341R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349406	NM_001144000.4(AGAP5):c.1001G>A (p.Arg334Gln)	AGAP5 (R334Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094359	NM_001144000.4(AGAP5):c.934G>A (p.Val312Met)	AGAP5 (V312M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094358	NM_001144000.4(AGAP5):c.929A>G (p.Asn310Ser)	AGAP5 (N310S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513373	NM_001144000.4(AGAP5):c.829G>A (p.Gly277Arg)	AGAP5 (G277R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347041	NM_001144000.4(AGAP5):c.745C>T (p.Arg249Cys)	AGAP5 (R249C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379767	NM_001144000.4(AGAP5):c.736C>T (p.Arg246Trp)	AGAP5 (R246W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094345	NM_001144000.4(AGAP5):c.605C>T (p.Thr202Met)	AGAP5 (T202M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2382712	NM_001144000.4(AGAP5):c.595G>A (p.Val199Met)	AGAP5 (V199M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094337	NM_001144000.4(AGAP5):c.553A>G (p.Ser185Gly)	AGAP5 (S185G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094334	NM_001144000.4(AGAP5):c.490A>G (p.Ile164Val)	AGAP5 (I164V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2368803	NM_001144000.4(AGAP5):c.472C>G (p.His158Asp)	AGAP5 (H158D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094323	NM_001144000.4(AGAP5):c.429C>G (p.Ser143Arg)	AGAP5 (S143R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2391437	NM_001144000.4(AGAP5):c.306C>A (p.Asn102Lys)	AGAP5 (N102K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2310333	NM_001144000.4(AGAP5):c.202C>T (p.Arg68Cys)	AGAP5 (R68C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094245	NM_001144000.4(AGAP5):c.128C>T (p.Ala43Val)	AGAP5 (A43V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405900	NM_001144000.4(AGAP5):c.118A>T (p.Met40Leu)	AGAP5 (M40L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206729	NM_001144000.4(AGAP5):c.37G>A (p.Val13Ile)	AGAP5 (V13I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470650	NM_001144000.4(AGAP5):c.11T>C (p.Ile4Thr)	AGAP5 (I4T)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 40