64127[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	ADCY7, BRD7 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59489	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1	ADCY7, BRD7 +97 more	Copy number loss	See cases	GPathogenic
Select item 102969	NM_001370466.1(NOD2):c.-9+2758A>G	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102970	NM_001370466.1(NOD2):c.-8-2619C>A	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2431663	NM_001370466.1(NOD2):c.-8-2532G>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Blau syndrome	GUncertain significance
Select item 102971	NM_001370466.1(NOD2):c.-8-2406T>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 102972	NM_001370466.1(NOD2):c.-8-2388C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 319418	NM_001370466.1(NOD2):c.-8-2340del	NOD2	Deletion (5 prime UTR variant +1 more)	Crohn disease +1 more	GLikely benign
Select item 103115	NM_001370466.1(NOD2):c.-8-2335G>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 319419	NM_001370466.1(NOD2):c.-8-2303G>A	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 319420	NM_001370466.1(NOD2):c.-8-2302T>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +1 more	GBenign/Likely benign
Select item 319421	NM_001370466.1(NOD2):c.-8-2297C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 1 +2 more	GUncertain significance
Select item 319422	NM_001370466.1(NOD2):c.-8-2258C>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Blau syndrome +1 more	GBenign/Likely benign
Select item 1694106	NM_001370466.1(NOD2):c.-8-2244A>G	NOD2 (M1V)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 531595	NM_001370466.1(NOD2):c.-8-2243T>C	NOD2 (M1T)	Single nucleotide variant (missense variant +2 more)	Regional enteritis +1 more	GUncertain significance
Select item 1694113	NM_001370466.1(NOD2):c.-8-2242G>A	NOD2 (M1I)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory syndrome	GUncertain significance
Select item 531610	NM_001370466.1(NOD2):c.-8-2238G>C	NOD2 (E3Q)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 2266640	NM_001370466.1(NOD2):c.-8-2232G>T	NOD2 (G5C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 732125	NM_001370466.1(NOD2):c.-8-2232G>C	NOD2 (G5R)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2235316	NM_001370466.1(NOD2):c.-8-2226T>G	NOD2 (S7A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1388443	NM_001370466.1(NOD2):c.-8-2223G>T	NOD2 (A8S)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 844966	NM_001370466.1(NOD2):c.-8-2223del	NOD2 (A8fs)	Deletion (frameshift variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940981	NM_001370466.1(NOD2):c.-8-2219C>T	NOD2 (S9F)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2136942	NM_001370466.1(NOD2):c.-8-2215C>T	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2152462	NM_001370466.1(NOD2):c.-8-2214G>A	NOD2 (D11N)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +2 more	GUncertain significance
Select item 2927161	NM_001370466.1(NOD2):c.-8-2213A>T	NOD2 (D11V)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2191474	NM_001370466.1(NOD2):c.-8-2209G>A	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 1474089	NM_001370466.1(NOD2):c.-8-2208G>A	NOD2 (E13K)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1507434	NM_001370466.1(NOD2):c.-8-2202_-8-2194dup	NOD2	Duplication (inframe_insertion +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 885199	NM_001370466.1(NOD2):c.-8-2202A>G	NOD2 (R15G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 1 +1 more	GUncertain significance
Select item 319423	NM_001370466.1(NOD2):c.-8-2193G>A	NOD2 (V18I)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GUncertain significance
Select item 546773	NM_001370466.1(NOD2):c.-8-2185C>T	NOD2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2948463	NM_001370466.1(NOD2):c.-8-2184G>T	NOD2 (G21*)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 657457	NM_001370466.1(NOD2):c.-8-2184G>A	NOD2 (G21R)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 758468	NM_001370466.1(NOD2):c.-8-2174C>T	NOD2 (P24L)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2927849	NM_001370466.1(NOD2):c.-8-2173G>A	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1060229	NM_001370466.1(NOD2):c.-8-2171G>A	NOD2	Single nucleotide variant (intron variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2095019	NM_001370466.1(NOD2):c.-8-2166A>G	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GUncertain significance
Select item 2929813	NM_001370466.1(NOD2):c.-8-2158G>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 103127	NM_001370466.1(NOD2):c.-8-2021T>C	NOD2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2628228	NM_001370466.1(NOD2):c.-8-25G>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 97880	NM_001370466.1(NOD2):c.-8-7T>A	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2920862	NM_001370466.1(NOD2):c.-8-2A>T	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2067969	NM_001370466.1(NOD2):c.-8-1G>C	NOD2	Single nucleotide variant (5 prime UTR variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2934952	NM_001370466.1(NOD2):c.-8G>C	NOD2 (G25A)	Single nucleotide variant (5 prime UTR variant +2 more)	Regional enteritis +1 more	GUncertain significance
Select item 1694119	NM_001370466.1(NOD2):c.-7T>C	NOD2	Single nucleotide variant (5 prime UTR variant +2 more)	Regional enteritis +2 more	GConflicting classifications of pathogenicity
Select item 661861	NM_001370466.1(NOD2):c.1A>G (p.Met1Val)	NOD2 (M28V +1 more)	Single nucleotide variant (missense variant +2 more)	Blau syndrome +1 more	GUncertain significance
Select item 1694122	NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu)	NOD2 (S30L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 934890	NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp)	NOD2 (S30W +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1565405	NM_001370466.1(NOD2):c.9G>T (p.Ser3=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 752528	NM_001370466.1(NOD2):c.9G>A (p.Ser3=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 1 +1 more	GLikely benign
Select item 581748	NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter)	NOD2 (Q35* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +2 more	GUncertain significance
Select item 2939466	NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)	NOD2 (Q10R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1026696	NM_001370466.1(NOD2):c.31A>G (p.Arg11Gly)	NOD2 (R11G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 97821	NM_001370466.1(NOD2):c.32G>T (p.Arg11Met)	NOD2 (R38M +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	Gnot provided
Select item 1479088	NM_001370466.1(NOD2):c.35G>A (p.Ser12Asn)	NOD2 (S39N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1982534	NM_001370466.1(NOD2):c.39G>A (p.Gln13=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 1055441	NM_001370466.1(NOD2):c.40C>G (p.Leu14Val)	NOD2 (L14V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1131960	NM_001370466.1(NOD2):c.42G>C (p.Leu14=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 971033	NM_001370466.1(NOD2):c.43G>C (p.Val15Leu)	NOD2 (V15L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 531611	NM_001370466.1(NOD2):c.45C>T (p.Val15=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +2 more	GLikely benign
Select item 462695	NM_001370466.1(NOD2):c.46G>A (p.Glu16Lys)	NOD2 (E43K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 655642	NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln)	NOD2 (L17Q +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2944867	NM_001370466.1(NOD2):c.54G>A (p.Leu18=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 319424	NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)	NOD2 (S47L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1500548	NM_001370466.1(NOD2):c.62G>C (p.Gly21Ala)	NOD2 (G21A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2266496	NM_001370466.1(NOD2):c.68T>C (p.Leu23Pro)	NOD2 (L50P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2941579	NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)	NOD2 (E24* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2924868	NM_001370466.1(NOD2):c.77T>C (p.Phe26Ser)	NOD2 (F53S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1110871	NM_001370466.1(NOD2):c.78C>T (p.Phe26=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2925223	NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)	NOD2 (E27K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1950971	NM_001370466.1(NOD2):c.113_127dup (p.Glu42_Asp43insValLeuSerTrpGlu)	NOD2	Duplication (inframe_insertion +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2034284	NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)	NOD2 (W36* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2120466	NM_001370466.1(NOD2):c.113T>C (p.Val38Ala)	NOD2 (V65A +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1679256	NM_001370466.1(NOD2):c.118T>C (p.Ser40Pro)	NOD2 (S40P +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 663514	NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys)	NOD2 (S40C +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1155347	NM_001370466.1(NOD2):c.132C>T (p.Tyr44=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 966699	NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys)	NOD2 (E45K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GConflicting classifications of pathogenicity
Select item 1371528	NM_001370466.1(NOD2):c.134A>G (p.Glu45Gly)	NOD2 (E72G +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 3068617	NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)	NOD2 (F47L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 2060205	NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)	NOD2 (Q52* +1 more)	Single nucleotide variant (nonsense +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1908341	NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)	NOD2 (P53T +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 1973669	NM_001370466.1(NOD2):c.159T>C (p.Pro53=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 267320	NM_022162.2(NOD2):c.241C>G (p.Leu81Val)	NOD2 (L81V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 1648109	NM_001370466.1(NOD2):c.162C>T (p.Leu54=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2923049	NM_001370466.1(NOD2):c.165C>T (p.Ser55=)	NOD2	Single nucleotide variant (non-coding transcript variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 1623222	NM_001370466.1(NOD2):c.168C>T (p.His56=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2016062	NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)	NOD2 (R86G +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2945987	NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)	NOD2 (R86K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 576113	NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys)	NOD2 (R87C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 1421308	NM_001370466.1(NOD2):c.179G>A (p.Arg60His)	NOD2 (R60H +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance

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