ClinVar for Gene (Select 6957) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379796	NM_002769.5(PRSS1):c.409A>C (p.Thr137Pro)	PRSS1, TRB (T137P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3076183	NM_002769.5(PRSS1):c.591+12_591+14del	TRB, PRSS1	Deletion (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3015817	NM_002769.5(PRSS1):c.406G>A (p.Gly136Ser)	PRSS1, TRB (G136S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2994198	NM_002769.5(PRSS1):c.285C>A (p.Arg95=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 2910359	NM_002769.5(PRSS1):c.653_655dup (p.Asp218_Gly219insAsp)	PRSS1, TRB	Duplication (inframe_insertion +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2899912	NM_002769.5(PRSS1):c.205A>G (p.Ile69Val)	PRSS1, TRB (I69V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2896387	NM_002769.5(PRSS1):c.454+16A>G	PRSS1, TRB	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2866535	NM_002769.5(PRSS1):c.41-14C>A	PRSS1, TRB	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2838606	NM_002769.5(PRSS1):c.40+15C>G	PRSS1, TRB	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2819718	NM_002769.5(PRSS1):c.283C>A (p.Arg95Ser)	PRSS1, TRB (R95S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2796802	NM_002769.5(PRSS1):c.592-14C>G	PRSS1, TRB	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2792444	NM_002769.5(PRSS1):c.625C>G (p.Gln209Glu)	PRSS1, TRB (Q209E)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GBenign
Select item 2787400	NM_002769.5(PRSS1):c.488C>T (p.Ala163Val)	PRSS1, TRB (A163V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2785820	NM_002769.5(PRSS1):c.201-12C>T	PRSS1, TRB	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2761096	NM_002769.5(PRSS1):c.592-4C>T	PRSS1, TRB	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2737784	NM_002769.5(PRSS1):c.257A>C (p.Gln86Pro)	PRSS1, TRB (Q86P)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2735091	NM_002769.5(PRSS1):c.248G>A (p.Gly83Glu)	PRSS1, TRB (G83E)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2726145	NM_002769.5(PRSS1):c.350C>G (p.Ala117Gly)	PRSS1, TRB (A117G)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2714471	NM_002769.5(PRSS1):c.551T>C (p.Phe184Ser)	PRSS1, TRB (F184S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2705449	NM_002769.5(PRSS1):c.619A>C (p.Asn207His)	PRSS1, TRB (N207H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2663057	NM_002769.5(PRSS1):c.149G>T (p.Gly50Val)	PRSS1, TRB (G50V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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