ClinVar for MedGen (Select 116056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3226089	NM_007272.3(CTRC):c.743A>G (p.Lys248Arg)	CTRC (K248R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226088	NM_007272.3(CTRC):c.730A>C (p.Asn244His)	CTRC (N244H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226087	NM_007272.3(CTRC):c.702C>A (p.Ile234=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226086	NM_007272.3(CTRC):c.699C>T (p.Gly233=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226085	NM_007272.3(CTRC):c.695T>C (p.Phe232Ser)	CTRC (F232S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226084	NM_007272.3(CTRC):c.577G>A (p.Gly193Ser)	CTRC (G193S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226082	NM_007272.3(CTRC):c.555G>T (p.Thr185=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226081	NM_007272.3(CTRC):c.552C>T (p.Ala184=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226080	NM_007272.3(CTRC):c.549C>A (p.His183Gln)	CTRC (H183Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226079	NM_007272.3(CTRC):c.547C>A (p.His183Asn)	CTRC (H183N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226078	NM_007272.3(CTRC):c.536C>G (p.Pro179Arg)	CTRC (P179R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226077	NM_007272.3(CTRC):c.531G>C (p.Leu177=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226076	NM_007272.3(CTRC):c.503C>T (p.Pro168Leu)	CTRC (P168L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226075	NM_007272.3(CTRC):c.501C>A (p.Gly167=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226074	NM_007272.3(CTRC):c.498C>A (p.Asn166Lys)	CTRC (N166K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226073	NM_007272.3(CTRC):c.415G>A (p.Val139Met)	CTRC (V139M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226072	NM_007272.3(CTRC):c.412C>A (p.Gln138Lys)	CTRC (Q138K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226071	NM_007272.3(CTRC):c.401G>A (p.Ser134Asn)	CTRC (S134N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226070	NM_007272.3(CTRC):c.392T>G (p.Val131Gly)	CTRC (V131G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226069	NM_007272.3(CTRC):c.367G>A (p.Ala123Thr)	CTRC (A123T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226068	NM_007272.3(CTRC):c.354G>T (p.Leu118Phe)	CTRC (L118F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226067	NM_007272.3(CTRC):c.345C>T (p.Ala115=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226066	NM_007272.3(CTRC):c.328C>A (p.His110Asn)	CTRC (H110N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226065	NM_007272.3(CTRC):c.324C>T (p.His108=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226064	NM_007272.3(CTRC):c.297C>T (p.Ser99=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226063	NM_007272.3(CTRC):c.295T>C (p.Ser99Pro)	CTRC (S99P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226062	NM_007272.3(CTRC):c.289G>A (p.Glu97Lys)	CTRC (E97K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226061	NM_007272.3(CTRC):c.286G>C (p.Glu96Gln)	CTRC (E96Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226060	NM_007272.3(CTRC):c.264G>C (p.Lys88Asn)	CTRC (K88N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226059	NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)	CTRC (Y82*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GPathogenic
Select item 3226058	NM_007272.3(CTRC):c.216C>A (p.Ala72=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226057	NM_007272.3(CTRC):c.209T>C (p.Leu70Pro)	CTRC (L70P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226056	NM_007272.3(CTRC):c.172A>G (p.Thr58Ala)	CTRC (T58A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226055	NM_007272.3(CTRC):c.170A>G (p.His57Arg)	CTRC (H57R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226054	NM_007272.3(CTRC):c.16G>A (p.Val6Ile)	CTRC (V6I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226053	NM_007272.3(CTRC):c.169C>T (p.His57Tyr)	CTRC (H57Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226052	NM_007272.3(CTRC):c.159C>G (p.Asp53Glu)	CTRC (D53E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226051	NM_007272.3(CTRC):c.133A>T (p.Ile45Phe)	CTRC (I45F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226050	NM_007272.3(CTRC):c.127T>C (p.Trp43Arg)	CTRC (W43R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223138	NM_001379610.1(SPINK1):c.7G>C (p.Val3Leu)	SPINK1 (V3L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223137	NM_001379610.1(SPINK1):c.39C>T (p.Ala13=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3223136	NM_001379610.1(SPINK1):c.231G>T (p.Gly77=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3223135	NM_001379610.1(SPINK1):c.226T>G (p.Ser76Ala)	SPINK1 (S76A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223134	NM_001379610.1(SPINK1):c.203A>T (p.Gln68Leu)	SPINK1 (Q68L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223133	NM_001379610.1(SPINK1):c.181T>C (p.Cys61Arg)	SPINK1 (C61R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223132	NM_001379610.1(SPINK1):c.173G>A (p.Cys58Tyr)	SPINK1 (C58Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223131	NM_001379610.1(SPINK1):c.139T>C (p.Cys47Arg)	SPINK1 (C47R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223130	NM_001379610.1(SPINK1):c.134C>G (p.Pro45Arg)	SPINK1 (P45R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223129	NM_001379610.1(SPINK1):c.113G>A (p.Gly38Glu)	SPINK1 (G38E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3223128	NM_001379610.1(SPINK1):c.111T>G (p.Asn37Lys)	SPINK1 (N37K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3222829	NM_002769.5(PRSS1):c.93G>C (p.Glu31Asp)	PRSS1, TRB (E31D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222828	NM_002769.5(PRSS1):c.78G>A (p.Gly26=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222827	NM_002769.5(PRSS1):c.723C>T (p.Asn241=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222826	NM_002769.5(PRSS1):c.707T>G (p.Val236Gly)	PRSS1, TRB (V236G)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222825	NM_002769.5(PRSS1):c.699C>A (p.Tyr233Ter)	PRSS1, TRB (Y233*)	Single nucleotide variant (nonsense +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222824	NM_002769.5(PRSS1):c.663C>T (p.Ala221=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222822	NM_002769.5(PRSS1):c.650G>T (p.Gly217Val)	PRSS1, TRB (G217V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222821	NM_002769.5(PRSS1):c.641T>C (p.Val214Ala)	PRSS1, TRB (V214A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222820	NM_002769.5(PRSS1):c.636A>T (p.Gly212=)	TRB, PRSS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222817	NM_002769.5(PRSS1):c.55G>C (p.Asp19His)	PRSS1, TRB (D19H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222816	NM_002769.5(PRSS1):c.557T>C (p.Val186Ala)	PRSS1, TRB (V186A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222815	NM_002769.5(PRSS1):c.533A>G (p.Lys178Arg)	PRSS1, TRB (K178R)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222814	NM_002769.5(PRSS1):c.528T>C (p.Pro176=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222813	NM_002769.5(PRSS1):c.48C>A (p.Ala16=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222812	NM_002769.5(PRSS1):c.471G>C (p.Glu157Asp)	PRSS1, TRB (E157D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222811	NM_002769.5(PRSS1):c.468C>A (p.Asp156Glu)	PRSS1, TRB (D156E)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222810	NM_002769.5(PRSS1):c.465A>T (p.Pro155=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222809	NM_002769.5(PRSS1):c.459C>T (p.Asp153=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222808	NM_002769.5(PRSS1):c.455-1G>A	PRSS1, TRB	Single nucleotide variant (splice acceptor variant)	Hereditary pancreatitis	GUncertain significance
Select item 3222806	NM_002769.5(PRSS1):c.395C>T (p.Pro132Leu)	PRSS1, TRB (P132L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222805	NM_002769.5(PRSS1):c.391G>T (p.Ala131Ser)	PRSS1, TRB (A131S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222804	NM_002769.5(PRSS1):c.387C>T (p.Pro129=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222803	NM_002769.5(PRSS1):c.371C>A (p.Ser124Tyr)	PRSS1, TRB (S124Y)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222802	NM_002769.5(PRSS1):c.370T>A (p.Ser124Thr)	PRSS1, TRB (S124T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222801	NM_002769.5(PRSS1):c.319G>T (p.Asp107Tyr)	PRSS1, TRB (D107Y)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222800	NM_002769.5(PRSS1):c.315C>G (p.Asn105Lys)	PRSS1, TRB (N105K)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222799	NM_002769.5(PRSS1):c.310C>G (p.Leu104Val)	PRSS1, TRB (L104V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222798	NM_002769.5(PRSS1):c.306G>T (p.Lys102Asn)	PRSS1, TRB (K102N)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222797	NM_002769.5(PRSS1):c.305A>T (p.Lys102Met)	PRSS1, TRB (K102M)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222796	NM_002769.5(PRSS1):c.305A>G (p.Lys102Arg)	PRSS1, TRB (K102R)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222795	NM_002769.5(PRSS1):c.293A>G (p.Gln98Arg)	PRSS1, TRB (Q98R)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222794	NM_002769.5(PRSS1):c.28G>A (p.Val10Met)	PRSS1, TRB (V10M)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222793	NM_002769.5(PRSS1):c.278T>C (p.Ile93Thr)	PRSS1, TRB (I93T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222792	NM_002769.5(PRSS1):c.230A>C (p.Asn77Thr)	PRSS1, TRB (N77T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222791	NM_002769.5(PRSS1):c.180A>G (p.Ser60=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222790	NM_002769.5(PRSS1):c.177A>C (p.Val59=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222789	NM_002769.5(PRSS1):c.149G>C (p.Gly50Ala)	PRSS1, TRB (G50A)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222788	NM_002769.5(PRSS1):c.149G>A (p.Gly50Asp)	PRSS1, TRB (G50D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222787	NM_002769.5(PRSS1):c.145G>T (p.Gly49Cys)	PRSS1, TRB (G49C)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222786	NM_002769.5(PRSS1):c.136C>G (p.His46Asp)	PRSS1, TRB (H46D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222785	NM_002769.5(PRSS1):c.111C>T (p.Tyr37=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222784	NM_002769.5(PRSS1):c.104T>C (p.Val35Ala)	PRSS1, TRB (V35A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3221859	NM_001868.4(CPA1):c.99G>A (p.Glu33=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221858	NM_001868.4(CPA1):c.991C>G (p.Gln331Glu)	CPA1 (Q331E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3221857	NM_001868.4(CPA1):c.985C>T (p.Leu329=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221856	NM_001868.4(CPA1):c.972T>C (p.Pro324=)	CPA1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3221855	NM_001868.4(CPA1):c.95A>G (p.Asp32Gly)	CPA1 (D32G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign

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