ClinVar for Gene (Select 10392) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201020	NM_006092.4(NOD1):c.892G>A (p.Val298Met)	NOD1 (V298M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201019	NM_006092.4(NOD1):c.709C>T (p.Arg237Cys)	NOD1 (R237C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201018	NM_006092.4(NOD1):c.430G>T (p.Val144Leu)	NOD1 (V144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201017	NM_006092.4(NOD1):c.305C>T (p.Pro102Leu)	NOD1 (P102L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201016	NM_006092.4(NOD1):c.2851A>C (p.Ile951Leu)	NOD1 (I923L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201015	NM_006092.4(NOD1):c.2440A>G (p.Ile814Val)	NOD1 (I814V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201014	NM_006092.4(NOD1):c.2435A>G (p.Lys812Arg)	NOD1 (K812R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201012	NM_006092.4(NOD1):c.2080G>C (p.Ala694Pro)	NOD1 (A694P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201011	NM_006092.4(NOD1):c.2066C>T (p.Ser689Leu)	NOD1 (S689L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201010	NM_006092.4(NOD1):c.1814G>A (p.Arg605Gln)	NOD1 (R605Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201008	NM_006092.4(NOD1):c.1661C>T (p.Ala554Val)	NOD1 (A554V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201007	NM_006092.4(NOD1):c.1394A>G (p.Gln465Arg)	NOD1 (Q465R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3201006	NM_006092.4(NOD1):c.1370G>A (p.Arg457Gln)	NOD1 (R457Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201004	NM_006092.4(NOD1):c.1286C>G (p.Thr429Ser)	NOD1 (T429S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201003	NM_006092.4(NOD1):c.1142A>G (p.Asn381Ser)	NOD1 (N381S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201002	NM_006092.4(NOD1):c.1066C>T (p.His356Tyr)	NOD1 (H356Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201001	NM_006092.4(NOD1):c.1018C>T (p.Arg340Cys)	NOD1 (R340C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 2657369	NM_006092.4(NOD1):c.1881C>T (p.Ser627=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657368	NM_006092.4(NOD1):c.2360C>T (p.Thr787Met)	NOD1 (T787M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621900	NM_006092.4(NOD1):c.407A>G (p.His136Arg)	NOD1 (H136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607307	NM_006092.4(NOD1):c.244G>C (p.Val82Leu)	NOD1 (V82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607306	NM_006092.4(NOD1):c.2326G>A (p.Val776Ile)	NOD1 (V776I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605019	NM_006092.4(NOD1):c.964C>G (p.Leu322Val)	NOD1 (L322V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604680	NM_006092.4(NOD1):c.2804T>G (p.Leu935Arg)	NOD1 (L907R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557380	NM_006092.4(NOD1):c.2677A>G (p.Lys893Glu)	NOD1 (K893E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551403	NM_006092.4(NOD1):c.948C>A (p.Asn316Lys)	NOD1 (N316K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538810	NM_006092.4(NOD1):c.1208A>G (p.His403Arg)	NOD1 (H403R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536760	NM_006092.4(NOD1):c.163G>A (p.Ala55Thr)	NOD1 (A55T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529701	NM_006092.4(NOD1):c.2308G>C (p.Asp770His)	NOD1 (D770H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526242	NM_006092.4(NOD1):c.1609A>G (p.Thr537Ala)	NOD1 (T537A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510942	NM_006092.4(NOD1):c.1376C>T (p.Thr459Ile)	NOD1 (T459I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475578	NM_006092.4(NOD1):c.155C>T (p.Ala52Val)	NOD1 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462052	NM_006092.4(NOD1):c.2081C>T (p.Ala694Val)	NOD1 (A694V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461139	NM_006092.4(NOD1):c.1495C>T (p.Arg499Trp)	NOD1 (R499W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409124	NM_006092.4(NOD1):c.1214G>A (p.Arg405His)	NOD1 (R405H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2403958	NM_006092.4(NOD1):c.1949C>T (p.Pro650Leu)	NOD1 (P650L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399411	NM_006092.4(NOD1):c.870C>G (p.His290Gln)	NOD1 (H290Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390566	NM_006092.4(NOD1):c.1723C>T (p.Arg575Trp)	NOD1 (R575W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388719	NM_006092.4(NOD1):c.1718C>T (p.Pro573Leu)	NOD1 (P573L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367873	NM_006092.4(NOD1):c.205C>T (p.Arg69Cys)	NOD1 (R69C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359631	NM_006092.4(NOD1):c.1196G>A (p.Arg399Gln)	NOD1 (R399Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353686	NM_006092.4(NOD1):c.1195C>T (p.Arg399Trp)	NOD1 (R399W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352809	NM_006092.4(NOD1):c.206G>A (p.Arg69His)	NOD1 (R69H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342521	NM_006092.4(NOD1):c.704G>A (p.Arg235His)	NOD1 (R235H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336429	NM_006092.4(NOD1):c.1597G>A (p.Asp533Asn)	NOD1 (D533N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334463	NM_006092.4(NOD1):c.590C>G (p.Thr197Ser)	NOD1 (T197S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332341	NM_006092.4(NOD1):c.2497G>A (p.Ala833Thr)	NOD1 (A833T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329220	NM_006092.4(NOD1):c.394C>A (p.Gln132Lys)	NOD1 (Q132K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283692	NM_006092.4(NOD1):c.2155G>A (p.Gly719Ser)	NOD1 (G719S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277609	NM_006092.4(NOD1):c.761T>C (p.Leu254Pro)	NOD1 (L254P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267069	NM_006092.4(NOD1):c.1667C>T (p.Thr556Met)	NOD1 (T556M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263594	NM_006092.4(NOD1):c.492G>A (p.Met164Ile)	NOD1 (M164I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262722	NM_006092.4(NOD1):c.2828T>G (p.Val943Gly)	NOD1 (V915G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261695	NM_006092.4(NOD1):c.595T>C (p.Phe199Leu)	NOD1 (F199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252871	NM_006092.4(NOD1):c.667C>T (p.Arg223Trp)	NOD1 (R223W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243162	NM_006092.4(NOD1):c.107A>C (p.Asn36Thr)	NOD1 (N36T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211894	NM_006092.4(NOD1):c.1970G>A (p.Arg657His)	NOD1 (R657H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207512	NM_006092.4(NOD1):c.47C>T (p.Ser16Phe)	NOD1 (S16F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207511	NM_006092.4(NOD1):c.46T>A (p.Ser16Thr)	NOD1 (S16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205145	NM_006092.4(NOD1):c.104G>A (p.Arg35His)	NOD1 (R35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527346	GRCh37/hg19 7p14.3(chr7:30404217-30782235)	CRHR2, GARS1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1401428	NC_000007.13:g.(?_30054351)_(31018859_?)dup	AQP1, CRHR2 +10 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1235615	NM_006092.4(NOD1):c.796G>A (p.Glu266Lys)	NOD1 (E266K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1233093	NM_006092.4(NOD1):c.1722G>A (p.Ala574=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 979761	GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3	GHRHR, GGCT +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 814952	GRCh37/hg19 7p14.3(chr7:30502942-30888964)x1	GARS1, CRHR2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 814951	GRCh37/hg19 7p14.3(chr7:30463886-30674061)x3	GGCT, NOD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 787850	NM_006092.4(NOD1):c.1114G>A (p.Asp372Asn)	NOD1 (D372N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783490	NM_006092.4(NOD1):c.2823C>G (p.Ala941=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769707	NM_006092.4(NOD1):c.891C>T (p.Arg297=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769706	NM_006092.4(NOD1):c.1340G>A (p.Arg447His)	NOD1 (R447H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 765010	NM_006092.4(NOD1):c.2319C>G (p.Ala773=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732411	NM_006092.4(NOD1):c.377-10C>T	NOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722944	NM_006092.4(NOD1):c.641G>A (p.Arg214Gln)	NOD1 (R214Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 635940	NC_000007.13:g.30439214_30632407dup	GGCT, NOD1	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 103110	NM_006092.4(NOD1):c.375A>G (p.Pro125=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103109	NM_006092.4(NOD1):c.285T>C (p.Asp95=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103108	NM_006092.4(NOD1):c.2697G>C (p.Lys899Asn)	NOD1 (K899N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided

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