ClinVar for MedGen (Select 116056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383043	NM_000492.4(CFTR):c.1069G>A (p.Ala357Thr)	CFTR (A357T)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 3383012	NM_000492.4(CFTR):c.3536C>T (p.Thr1179Ile)	CFTR (T1179I)	Single nucleotide variant (missense variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 3382839	NM_000492.4(CFTR):c.869+1G>A	CFTR	Single nucleotide variant (splice donor variant)	Cystic fibrosis +3 more	GUncertain significance
Select item 3322242	NM_001379610.1(SPINK1):c.51A>G (p.Leu17=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3322241	NM_001379610.1(SPINK1):c.85G>A (p.Glu29Lys)	SPINK1 (E29K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 3322239	NM_001379610.1(SPINK1):c.125T>C (p.Ile42Thr)	SPINK1 (I42T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3322238	NM_001379610.1(SPINK1):c.144G>A (p.Gly48=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3310662	NM_002769.5(PRSS1):c.221G>A (p.Gly74Glu)	PRSS1, TRB (G74E)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310661	NM_002769.5(PRSS1):c.539C>T (p.Thr180Ile)	PRSS1, TRB (T180I)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310660	NM_002769.5(PRSS1):c.609T>C (p.Pro203=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3310659	NM_002769.5(PRSS1):c.656G>C (p.Gly219Ala)	PRSS1, TRB (G219A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310658	NM_002769.5(PRSS1):c.178T>A (p.Ser60Thr)	PRSS1, TRB (S60T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310657	NM_002769.5(PRSS1):c.229A>T (p.Asn77Tyr)	PRSS1, TRB (N77Y)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310656	NM_002769.5(PRSS1):c.337C>T (p.Leu113Phe)	PRSS1, TRB (L113F)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310655	NM_002769.5(PRSS1):c.701A>G (p.Asn234Ser)	PRSS1, TRB (N234S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310654	NM_002769.5(PRSS1):c.17T>A (p.Ile6Asn)	PRSS1, TRB (I6N)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310652	NM_002769.5(PRSS1):c.168G>T (p.Gln56His)	PRSS1, TRB (Q56H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310651	NM_002769.5(PRSS1):c.318T>G (p.Asn106Lys)	PRSS1, TRB (N106K)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310650	NM_002769.5(PRSS1):c.418C>G (p.Leu140Val)	PRSS1, TRB (L140V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310649	NM_002769.5(PRSS1):c.289C>G (p.Pro97Ala)	PRSS1, TRB (P97A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310648	NM_002769.5(PRSS1):c.38C>A (p.Ala13Asp)	PRSS1, TRB (A13D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310647	NM_002769.5(PRSS1):c.281T>A (p.Ile94Asn)	PRSS1, TRB (I94N)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310646	NM_002769.5(PRSS1):c.185G>A (p.Gly62Asp)	PRSS1, TRB (G62D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310645	NM_002769.5(PRSS1):c.395C>G (p.Pro132Arg)	PRSS1, TRB (P132R)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310644	NM_002769.5(PRSS1):c.676C>A (p.Pro226Thr)	PRSS1, TRB (P226T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310642	NM_002769.5(PRSS1):c.717T>C (p.Ile239=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3310641	NM_002769.5(PRSS1):c.715A>T (p.Ile239Phe)	PRSS1, TRB (I239F)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310640	NM_002769.5(PRSS1):c.111C>G (p.Tyr37Ter)	PRSS1, TRB (Y37*)	Single nucleotide variant (nonsense +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310639	NM_002769.5(PRSS1):c.544A>C (p.Asn182His)	PRSS1, TRB (N182H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310637	NM_002769.5(PRSS1):c.688A>C (p.Thr230Pro)	PRSS1, TRB (T230P)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310636	NM_002769.5(PRSS1):c.127T>G (p.Ser43Ala)	PRSS1, TRB (S43A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3310635	NM_002769.5(PRSS1):c.5A>G (p.Asn2Ser)	PRSS1, TRB (N2S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3310634	NM_002769.5(PRSS1):c.682G>C (p.Val228Leu)	PRSS1, TRB (V228L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310632	NM_002769.5(PRSS1):c.157A>C (p.Ile53Leu)	PRSS1, TRB (I53L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310631	NM_002769.5(PRSS1):c.440C>T (p.Thr147Ile)	PRSS1, TRB (T147I)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310630	NM_002769.5(PRSS1):c.650_652del (p.Gly217del)	PRSS1, TRB (G217del)	Deletion (inframe_deletion +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310627	NM_002769.5(PRSS1):c.70A>C (p.Ile24Leu)	PRSS1, TRB (I24L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3270200	NM_007272.3(CTRC):c.454G>T (p.Asp152Tyr)	CTRC (D152Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270199	NM_007272.3(CTRC):c.718C>A (p.Arg240=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3270198	NM_007272.3(CTRC):c.643G>C (p.Asp215His)	CTRC (D215H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270197	NM_007272.3(CTRC):c.133A>G (p.Ile45Val)	CTRC (I45V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270196	NM_007272.3(CTRC):c.698G>T (p.Gly233Val)	CTRC (G233V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270195	NM_007272.3(CTRC):c.605G>A (p.Cys202Tyr)	CTRC (C202Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270194	NM_007272.3(CTRC):c.670T>G (p.Leu224Val)	CTRC (L224V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270192	NM_007272.3(CTRC):c.313G>A (p.Asp105Asn)	CTRC (D105N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270191	NM_007272.3(CTRC):c.370C>G (p.Leu124Val)	CTRC (L124V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270190	NM_007272.3(CTRC):c.85C>A (p.Arg29=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3270189	NM_007272.3(CTRC):c.200A>G (p.Asn67Ser)	CTRC (N67S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270188	NM_007272.3(CTRC):c.741G>A (p.Lys247=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3270187	NM_007272.3(CTRC):c.13A>G (p.Thr5Ala)	CTRC (T5A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270186	NM_007272.3(CTRC):c.784A>T (p.Ile262Phe)	CTRC (I262F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270185	NM_007272.3(CTRC):c.620G>A (p.Gly207Asp)	CTRC (G207D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270183	NM_007272.3(CTRC):c.396G>T (p.Glu132Asp)	CTRC (E132D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270182	NM_007272.3(CTRC):c.182G>A (p.Gly61Glu)	CTRC (G61E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270181	NM_007272.3(CTRC):c.38G>A (p.Cys13Tyr)	CTRC (C13Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 3270180	NM_007272.3(CTRC):c.485G>T (p.Arg162Leu)	CTRC (R162L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270179	NM_007272.3(CTRC):c.438C>T (p.Asp146=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3270178	NM_007272.3(CTRC):c.730A>G (p.Asn244Asp)	CTRC (N244D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270177	NM_007272.3(CTRC):c.607G>T (p.Ala203Ser)	CTRC (A203S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270176	NM_007272.3(CTRC):c.339G>C (p.Trp113Cys)	CTRC (W113C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270173	NM_007272.3(CTRC):c.611G>A (p.Gly204Glu)	CTRC (G204E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270172	NM_007272.3(CTRC):c.778G>C (p.Asp260His)	CTRC (D260H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3270171	NM_007272.3(CTRC):c.740A>G (p.Lys247Arg)	CTRC (K247R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269106	NM_001868.4(CPA1):c.1041G>C (p.Lys347Asn)	CPA1 (K347N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269105	NM_001868.4(CPA1):c.807C>A (p.Asn269Lys)	CPA1 (N269K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269103	NM_001868.4(CPA1):c.1191C>T (p.Ile397=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269102	NM_001868.4(CPA1):c.312G>T (p.Met104Ile)	CPA1 (M104I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269101	NM_001868.4(CPA1):c.1174C>T (p.Pro392Ser)	CPA1 (P392S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269100	NM_001868.4(CPA1):c.837T>C (p.Phe279=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269099	NM_001868.4(CPA1):c.344A>G (p.Asp115Gly)	CPA1 (D115G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269098	NM_001868.4(CPA1):c.528G>T (p.Thr176=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269097	NM_001868.4(CPA1):c.654G>A (p.Glu218=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269096	NM_001868.4(CPA1):c.1177G>T (p.Ala393Ser)	CPA1 (A393S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269095	NM_001868.4(CPA1):c.845C>T (p.Ser282Phe)	CPA1 (S282F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269094	NM_001868.4(CPA1):c.637T>G (p.Leu213Val)	CPA1 (L213V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269092	NM_001868.4(CPA1):c.724C>T (p.His242Tyr)	CPA1 (H242Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269091	NM_001868.4(CPA1):c.986del (p.Leu329fs)	CPA1 (L329fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GLikely benign
Select item 3269090	NM_001868.4(CPA1):c.665A>T (p.Asn222Ile)	CPA1 (N222I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269089	NM_001868.4(CPA1):c.937A>C (p.Met313Leu)	CPA1 (M313L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 3269088	NM_001868.4(CPA1):c.1063A>G (p.Lys355Glu)	CPA1 (K355E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269087	NM_001868.4(CPA1):c.125T>G (p.Leu42Arg)	CPA1 (L42R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269086	NM_001868.4(CPA1):c.184C>G (p.Pro62Ala)	CPA1 (P62A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269085	NM_001868.4(CPA1):c.414G>A (p.Glu138=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269084	NM_001868.4(CPA1):c.272A>G (p.Glu91Gly)	CPA1 (E91G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269082	NM_001868.4(CPA1):c.318C>T (p.Ala106=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269081	NM_001868.4(CPA1):c.1137C>G (p.Phe379Leu)	CPA1 (F379L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269080	NM_001868.4(CPA1):c.270C>T (p.Ile90=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269079	NM_001868.4(CPA1):c.903C>G (p.Ala301=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269078	NM_001868.4(CPA1):c.348T>C (p.Thr116=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269077	NM_001868.4(CPA1):c.131A>T (p.Asp44Val)	CPA1 (D44V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269076	NM_001868.4(CPA1):c.279G>A (p.Val93=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3269074	NM_001868.4(CPA1):c.5G>C (p.Arg2Pro)	CPA1 (R2P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269072	NM_001868.4(CPA1):c.134T>C (p.Leu45Pro)	CPA1 (L45P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3269071	NM_001868.4(CPA1):c.988-2A>G	CPA1	Single nucleotide variant (splice acceptor variant)	Hereditary pancreatitis	GLikely benign
Select item 3245715	NC_000007.13:g.(?_142459605)_(142460438_?)dup	PRSS1, TRB	Duplication	Hereditary pancreatitis	GUncertain significance
Select item 3245714	NC_000007.13:g.(?_142459605)_(142460871_?)del	PRSS1, TRB	Deletion	Hereditary pancreatitis	GUncertain significance
Select item 3235238	NM_002769.5(PRSS1):c.423C>G (p.Ile141Met)	PRSS1, TRB (I141M)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3226092	NM_007272.3(CTRC):c.91G>A (p.Val31Met)	CTRC (V31M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226091	NM_007272.3(CTRC):c.770C>T (p.Ala257Val)	CTRC (A257V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226090	NM_007272.3(CTRC):c.750A>G (p.Val250=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign

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