"Ambry Genetics"[submitter] AND "EXOC1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2543575	NM_001024924.2(EXOC1):c.167A>G (p.Lys56Arg)	EXOC1, LOC126807057 (K56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401652	NM_001024924.2(EXOC1):c.190T>A (p.Tyr64Asn)	EXOC1, LOC126807057 (Y64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367943	NM_001024924.2(EXOC1):c.218G>A (p.Arg73Gln)	EXOC1, LOC126807057 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091020	NM_001024924.2(EXOC1):c.263C>T (p.Pro88Leu)	EXOC1 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355674	NM_001024924.2(EXOC1):c.370C>T (p.Arg124Trp)	EXOC1 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484176	NM_001024924.2(EXOC1):c.373A>G (p.Lys125Glu)	EXOC1 (K125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243391	NM_001024924.2(EXOC1):c.374A>G (p.Lys125Arg)	EXOC1 (K125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468626	NM_001024924.2(EXOC1):c.392A>G (p.Asn131Ser)	EXOC1 (N131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276749	NM_001024924.2(EXOC1):c.514G>A (p.Glu172Lys)	EXOC1 (E172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091022	NM_001024924.2(EXOC1):c.539A>G (p.Tyr180Cys)	EXOC1 (Y180C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463604	NM_001024924.2(EXOC1):c.539A>T (p.Tyr180Phe)	EXOC1 (Y180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524046	NM_001024924.2(EXOC1):c.554C>T (p.Ala185Val)	EXOC1 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091023	NM_001024924.2(EXOC1):c.670G>T (p.Ala224Ser)	EXOC1 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509396	NM_001024924.2(EXOC1):c.760G>A (p.Glu254Lys)	EXOC1 (E254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091024	NM_001024924.2(EXOC1):c.794A>G (p.Asn265Ser)	EXOC1 (N265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550165	NM_001024924.2(EXOC1):c.835C>A (p.His279Asn)	EXOC1 (H279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529739	NM_001024924.2(EXOC1):c.901A>G (p.Ile301Val)	EXOC1 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232976	NM_001024924.2(EXOC1):c.907G>T (p.Ala303Ser)	EXOC1 (A303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276753	NM_001024924.2(EXOC1):c.947A>G (p.Asn316Ser)	EXOC1 (N316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539105	NM_001024924.2(EXOC1):c.976C>T (p.Leu326Phe)	EXOC1 (L326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468463	NM_001024924.2(EXOC1):c.1004G>A (p.Arg335Gln)	EXOC1 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091016	NM_001024924.2(EXOC1):c.1010G>T (p.Ser337Ile)	EXOC1 (S337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380494	NM_001024924.2(EXOC1):c.1019G>A (p.Arg340Gln)	EXOC1 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276748	NM_001024924.2(EXOC1):c.1034G>A (p.Arg345Gln)	EXOC1 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375863	NM_001024924.2(EXOC1):c.1070A>C (p.Gln357Pro)	EXOC1 (Q357P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091017	NM_001024924.2(EXOC1):c.1231A>G (p.Met411Val)	EXOC1 (M411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291759	NM_001024924.2(EXOC1):c.1270G>A (p.Asp424Asn)	EXOC1 (D424N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266233	NM_001024924.2(EXOC1):c.1343G>C (p.Arg448Pro)	EXOC1 (R448P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276752	NM_001024924.2(EXOC1):c.1693A>G (p.Asn565Asp)	EXOC1 (N550D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408078	NM_001024924.2(EXOC1):c.1731T>A (p.Asp577Glu)	EXOC1 (D562E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091018	NM_001024924.2(EXOC1):c.1733T>C (p.Met578Thr)	EXOC1 (M578T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276751	NM_001024924.2(EXOC1):c.2015T>G (p.Leu672Arg)	EXOC1 (L657R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276750	NM_001024924.2(EXOC1):c.2131G>T (p.Val711Phe)	EXOC1 (V696F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091019	NM_001024924.2(EXOC1):c.2225G>A (p.Arg742Gln)	EXOC1 (R727Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276754	NM_001024924.2(EXOC1):c.2339A>G (p.His780Arg)	EXOC1 (H780R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211572	NM_001024924.2(EXOC1):c.2599C>T (p.Arg867Cys)	EXOC1 (R867C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522953	NM_001024924.2(EXOC1):c.2676G>C (p.Gln892His)	EXOC1 (Q892H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37