ClinVar for Gene (Select 6690) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337630	NM_001379610.1(SPINK1):c.116G>A (p.Cys39Tyr)	SPINK1 (C39Y)	Single nucleotide variant (missense variant)	not provided	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 3246298	NC_000005.9:g.(?_147204224)_(147516554_?)del	C5orf46, SCGB3A2 +2 more	Deletion	Ichthyosis linearis circumflexa	GPathogenic
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 3220930	NM_001379610.1(SPINK1):c.26T>G (p.Leu9Arg)	SPINK1 (L9R)	Single nucleotide variant (missense variant)	Pancreatitis, chronic, susceptibility to	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2921186	NM_001379610.1(SPINK1):c.195-15T>A	SPINK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917836	NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2906366	NM_001379610.1(SPINK1):c.88-10C>T	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2848724	NM_001379610.1(SPINK1):c.88-20C>A	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2816102	NM_001379610.1(SPINK1):c.204G>A (p.Gln68=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2755400	NM_001379610.1(SPINK1):c.16A>T (p.Ile6Phe)	SPINK1 (I6F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2739208	NM_001379610.1(SPINK1):c.170A>G (p.Glu57Gly)	SPINK1 (E57G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2733354	NM_001379610.1(SPINK1):c.87+18A>G	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2691883	NM_001379610.1(SPINK1):c.23T>C (p.Leu8Pro)	SPINK1 (L8P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2685176	GRCh37/hg19 5q32(chr5:147165102-147600692)x1	C5orf46, SCGB3A2 +4 more	Copy number loss	not provided	GPathogenic
Select item 2627340	NM_001379610.1(SPINK1):c.35T>C (p.Leu12Ser)	SPINK1 (L12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626717	NM_001379610.1(SPINK1):c.108T>A (p.Leu36=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626715	NM_001379610.1(SPINK1):c.32C>T (p.Ala11Val)	SPINK1 (A11V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626714	NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)	SPINK1 (T53A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626713	NM_001379610.1(SPINK1):c.52T>C (p.Ser18Pro)	SPINK1 (S18P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2581197	NM_001379610.1(SPINK1):c.*64del	SPINK1	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 2581196	NM_001379610.1(SPINK1):c.10_38del	SPINK1	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 2577384	NM_001379610.1(SPINK1):c.-1C>A	SPINK1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2565138	NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)	SPINK1 (S16I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2562044	NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)	SPINK1 (N52S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2562043	NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr)	SPINK1 (C79Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2503994	NM_001379610.1(SPINK1):c.56-91_56-90del	SPINK1	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 2497592	NM_001379610.1(SPINK1):c.9A>C (p.Val3=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2497591	NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)	SPINK1 (E35D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 2450395	NM_001379610.1(SPINK1):c.211A>G (p.Ile71Val)	SPINK1 (I71V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 2450394	NM_001379610.1(SPINK1):c.30T>A (p.Ser10Arg)	SPINK1 (S10R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2414904	NM_001379610.1(SPINK1):c.182del (p.Cys61fs)	SPINK1 (C61fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414903	NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2162264	NM_001379610.1(SPINK1):c.29G>A (p.Ser10Asn)	SPINK1 (S10N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2055377	NM_001379610.1(SPINK1):c.56-19A>G	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2046625	NM_001379610.1(SPINK1):c.194+19T>G	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1944050	NM_001379610.1(SPINK1):c.195-15dup	SPINK1	Duplication (intron variant)	Hereditary pancreatitis	GBenign
Select item 1909160	NM_001379610.1(SPINK1):c.55+11C>A	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1808844	GRCh37/hg19 5q32(chr5:147060274-147304443)x3	C5orf46, JAKMIP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 1794916	NM_001379610.1(SPINK1):c.26T>C (p.Leu9Pro)	SPINK1 (L9P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1793646	NM_001379610.1(SPINK1):c.25C>G (p.Leu9Val)	SPINK1 (L9V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1790687	NM_001379610.1(SPINK1):c.239G>A (p.Ter80=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1790409	NM_001379610.1(SPINK1):c.237C>A (p.Cys79Ter)	SPINK1 (C79*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GUncertain significance
Select item 1790147	NM_001379610.1(SPINK1):c.235T>G (p.Cys79Gly)	SPINK1 (C79G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1789696	NM_001379610.1(SPINK1):c.232C>T (p.Pro78Ser)	SPINK1 (P78S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1789558	NM_001379610.1(SPINK1):c.231G>C (p.Gly77=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1789236	NM_001379610.1(SPINK1):c.229G>C (p.Gly77Arg)	SPINK1 (G77R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1788907	NM_001379610.1(SPINK1):c.227C>G (p.Ser76Cys)	SPINK1 (S76C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1788060	NM_001379610.1(SPINK1):c.222A>G (p.Gln74=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1787897	NM_001379610.1(SPINK1):c.221A>G (p.Gln74Arg)	SPINK1 (Q74R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 1787403	NM_001379610.1(SPINK1):c.218T>C (p.Ile73Thr)	SPINK1 (I73T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1786378	NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)	SPINK1 (I71N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1786135	NM_001379610.1(SPINK1):c.107T>C (p.Leu36Pro)	SPINK1 (L36P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1786085	NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1784519	NM_001379610.1(SPINK1):c.201C>T (p.Arg67=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1784388	NM_001379610.1(SPINK1):c.200G>T (p.Arg67Leu)	SPINK1 (R67L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784162	NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)	SPINK1 (F7I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1779694	NM_001379610.1(SPINK1):c.105A>G (p.Glu35=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1779356	NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)	SPINK1 (C58*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GPathogenic
Select item 1778962	NM_001379610.1(SPINK1):c.172T>C (p.Cys58Arg)	SPINK1 (C58R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1776804	NM_001379610.1(SPINK1):c.162T>C (p.Tyr54=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1776795	NM_001379610.1(SPINK1):c.162del (p.Asn56fs)	SPINK1 (N56fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GLikely pathogenic
Select item 1776120	NM_001379610.1(SPINK1):c.159T>G (p.Thr53=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1776114	NM_001379610.1(SPINK1):c.159T>C (p.Thr53=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1774183	NM_001379610.1(SPINK1):c.150T>C (p.Asp50=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1773780	NM_001379610.1(SPINK1):c.103G>T (p.Glu35Ter)	SPINK1 (E35*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GPathogenic
Select item 1773550	NM_001379610.1(SPINK1):c.147T>G (p.Thr49=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1770317	NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)	SPINK1 (P45T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1768885	NM_001379610.1(SPINK1):c.99C>T (p.Tyr33=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1766475	NM_001379610.1(SPINK1):c.92A>T (p.Lys31Ile)	SPINK1 (K31I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1763623	NM_001379610.1(SPINK1):c.84A>T (p.Arg28Ser)	SPINK1 (R28S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1763243	NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)	SPINK1 (R28K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1761598	NM_001379610.1(SPINK1):c.7G>A (p.Val3Ile)	SPINK1 (V3I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1759720	NM_001379610.1(SPINK1):c.75C>A (p.Ser25=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1757955	NM_001379610.1(SPINK1):c.123G>A (p.Lys41=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1757635	NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)	SPINK1 (D24A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1756610	NM_001379610.1(SPINK1):c.6G>A (p.Lys2=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1756060	NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)	SPINK1 (A23V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1754414	NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)	SPINK1 (G22A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 1749160	NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)	SPINK1 (G19A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1749157	NM_001379610.1(SPINK1):c.56G>A (p.Gly19Asp)	SPINK1 (G19D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1747977	NM_001379610.1(SPINK1):c.55+1G>A	SPINK1	Single nucleotide variant (splice donor variant)	Hereditary pancreatitis	GLikely pathogenic
Select item 1747974	NM_001379610.1(SPINK1):c.54T>G (p.Ser18=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1743978	NM_001379610.1(SPINK1):c.48T>C (p.Ser16=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1741770	NM_001379610.1(SPINK1):c.117C>T (p.Cys39=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign

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