6690[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 more	Copy number loss	See cases	GPathogenic
Select item 1318292	NC_000005.10:g.147824530C>T	SPINK1	Single nucleotide variant	not provided	GLikely benign
Select item 351507	NM_001379610.1(SPINK1):c.*77del	SPINK1	Deletion (3 prime UTR 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 351508	NM_001379610.1(SPINK1):c.*51T>C	SPINK1	Single nucleotide variant (3 prime UTR variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 905859	NM_001379610.1(SPINK1):c.*48C>T	SPINK1	Single nucleotide variant (3 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 2581196	NM_001379610.1(SPINK1):c.10_38del	SPINK1	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 351509	NM_001379610.1(SPINK1):c.*34C>T	SPINK1	Single nucleotide variant (3 prime UTR variant)	Hereditary pancreatitis	GBenign
Select item 351510	NM_001379610.1(SPINK1):c.*32C>T	SPINK1	Single nucleotide variant (3 prime UTR variant)	Hereditary pancreatitis +1 more	GBenign/Likely benign
Select item 618382	NM_001379610.1(SPINK1):c.*27G>T	SPINK1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 657914	NC_000005.9:g.(?_147204204)_(147211355_?)dup	SPINK1	Duplication	Hereditary pancreatitis	GUncertain significance
Select item 583901	NC_000005.10:g.(?_147824641)_(147831792_?)del	SPINK1	Deletion	Hereditary pancreatitis	GPathogenic
Select item 528778	NC_000005.10:g.(?_147824655)_(147831583_?)del	SPINK1	Deletion	Hereditary pancreatitis	GPathogenic
Select item 459180	Single allele	SPINK1	Duplication	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 2562043	NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr)	SPINK1 (C79Y)	Single nucleotide variant (missense variant)	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 3223136	NM_001379610.1(SPINK1):c.231G>T (p.Gly77=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1789558	NM_001379610.1(SPINK1):c.231G>C (p.Gly77=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 258914	NM_001379610.1(SPINK1):c.231G>A (p.Gly77=)	SPINK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely 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 3223135	NM_001379610.1(SPINK1):c.226T>G (p.Ser76Ala)	SPINK1 (S76A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 618383	NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile)	SPINK1 (K75I)	Single nucleotide variant (missense variant)	not specified +1 more	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 928762	NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe)	SPINK1 (I73F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1723375	NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 947522	NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro)	SPINK1 (L72P)	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 2450395	NM_001379610.1(SPINK1):c.211A>G (p.Ile71Val)	SPINK1 (I71V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 1786085	NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 570585	NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr)	SPINK1 (S70T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 440299	NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile)	SPINK1 (T69I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 2816102	NM_001379610.1(SPINK1):c.204G>A (p.Gln68=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
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 410700	NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)	SPINK1 (Q68R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 132716	NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)	SPINK1 (R67H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GConflicting classifications of pathogenicity
Select item 132145	NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys)	SPINK1 (R67C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 410699	NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn)	SPINK1 (K66N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 496199	NM_001379610.1(SPINK1):c.195-7A>G	SPINK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944050	NM_001379610.1(SPINK1):c.195-15dup	SPINK1	Duplication (intron variant)	Hereditary pancreatitis	GBenign
Select item 2921186	NM_001379610.1(SPINK1):c.195-15T>A	SPINK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 440297	NM_001379610.1(SPINK1):c.195-21T>A	SPINK1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1165320	NM_001379610.1(SPINK1):c.195-70_195-67dup	SPINK1	Duplication (intron variant)	Hereditary pancreatitis +1 more	GBenign
Select item 239506	NM_001379610.1(SPINK1):c.194+184T>A	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GBenign/Likely benign
Select item 445689	NM_001379610.1(SPINK1):c.194+90A>T	SPINK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2046625	NM_001379610.1(SPINK1):c.194+19T>G	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1549057	NM_001379610.1(SPINK1):c.194+15G>C	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1065166	NM_001379610.1(SPINK1):c.194+6T>C	SPINK1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 132142	NM_001379610.1(SPINK1):c.194+2T>C	SPINK1	Single nucleotide variant (splice donor variant)	Chronic pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 36779	NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)	SPINK1 (R65Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 496198	NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp)	SPINK1 (R65W)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 701947	NM_001379610.1(SPINK1):c.192T>C (p.Asn64=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1038523	NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp)	SPINK1 (N64D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 932226	NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly)	SPINK1 (E63G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 2414903	NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
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 3223133	NM_001379610.1(SPINK1):c.181T>C (p.Cys61Arg)	SPINK1 (C61R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1093005	NM_001379610.1(SPINK1):c.177G>A (p.Val59=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1392176	NM_001379610.1(SPINK1):c.175G>A (p.Val59Met)	SPINK1 (V59M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1779356	NM_001379610.1(SPINK1):c.174C>A (p.Cys58Ter)	SPINK1 (C58*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GPathogenic
Select item 258913	NM_001379610.1(SPINK1):c.174C>T (p.Cys58=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
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 1778962	NM_001379610.1(SPINK1):c.172T>C (p.Cys58Arg)	SPINK1 (C58R)	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 840874	NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys)	SPINK1 (N56K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 987821	NM_001379610.1(SPINK1):c.165del (p.Asn56fs)	SPINK1 (N56fs)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 36778	NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)	SPINK1 (P55S)	Single nucleotide variant (missense variant)	Tropical pancreatitis +3 more	GBenign/Likely benign
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 132144	NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His)	SPINK1 (Y54H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	Gnot provided
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 2626714	NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)	SPINK1 (T53A)	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 1774183	NM_001379610.1(SPINK1):c.150T>C (p.Asp50=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 132143	NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu)	SPINK1 (D50E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	Gnot provided
Select item 1773550	NM_001379610.1(SPINK1):c.147T>G (p.Thr49=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3322238	NM_001379610.1(SPINK1):c.144G>A (p.Gly48=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
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 528769	NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp)	SPINK1 (V46D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1374546	NM_001379610.1(SPINK1):c.136G>C (p.Val46Leu)	SPINK1 (V46L)	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 1770317	NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)	SPINK1 (P45T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 239505	NM_001379610.1(SPINK1):c.129_131dup (p.Asp44dup)	SPINK1	Duplication (inframe_insertion)	Hereditary pancreatitis	GUncertain significance
Select item 633005	NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys)	SPINK1 (Y43C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +2 more	GUncertain significance
Select item 1444333	NM_001379610.1(SPINK1):c.127T>C (p.Tyr43His)	SPINK1 (Y43H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 818762	NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met)	SPINK1 (I42M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1757955	NM_001379610.1(SPINK1):c.123G>A (p.Lys41=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign

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