4089[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 659588	NC_000018.9:g.(?_48556583)_(48604847_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 644844	NC_000018.10:g.(?_51030213)_(51030623_?)del	SMAD4	Deletion	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 583710	NC_000018.10:g.(?_51030213)_(51078477_?)del	SMAD4	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 224549	NM_005359.5(SMAD4):c.(?_-538)_1139+?del	SMAD4	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 889297	NM_005359.6(SMAD4):c.-531G>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327101	NM_005359.6(SMAD4):c.-506ACA[1]	SMAD4	Microsatellite (5 prime UTR variant)	Juvenile Polyposis +2 more	GUncertain significance
Select item 889298	NM_005359.6(SMAD4):c.-504A>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327102	NM_005359.6(SMAD4):c.-495C>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327103	NM_005359.6(SMAD4):c.-476C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889978	NM_005359.6(SMAD4):c.-401C>T	SMAD4	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 889979	NM_005359.6(SMAD4):c.-400C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327104	NM_005359.6(SMAD4):c.-333C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327105	NM_005359.6(SMAD4):c.-313C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 327106	NM_005359.6(SMAD4):c.-233G>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 516677	NM_005359.6(SMAD4):c.-148C>T	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 392894	NM_005359.6(SMAD4):c.-135G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388624	NM_005359.6(SMAD4):c.-133G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1692891	NM_005359.6(SMAD4):c.-128+6_-128+7insCTTGCAACGTTA	SMAD4	Insertion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 420552	NM_005359.6(SMAD4):c.-128+6C>T	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692892	NM_005359.6(SMAD4):c.-128+7G>T	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 327107	NM_005359.6(SMAD4):c.-128+12A>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 516946	NM_005359.6(SMAD4):c.-128+19del	SMAD4	Deletion (intron variant)	not specified	GLikely benign
Select item 420335	NM_005359.6(SMAD4):c.-128+16_-128+18delinsTT	SMAD4	Indel (intron variant)	not specified	GLikely benign
Select item 423518	NM_005359.6(SMAD4):c.-128+19C>T	SMAD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1292858	NM_005359.6(SMAD4):c.-128+89CGG[8]	SMAD4	Microsatellite (intron variant)	not provided	GBenign
Select item 224021	NM_005359.6(SMAD4):c.-128+263G>C	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224023	NM_005359.6(SMAD4):c.-128+540A>G	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224026	NM_005359.6(SMAD4):c.-128+759G>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224033	NM_005359.6(SMAD4):c.-128+1995A>G	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224016	NM_005359.6(SMAD4):c.-128+3139C>T	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224029	NM_005359.6(SMAD4):c.-127-4838G>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224027	NM_005359.6(SMAD4):c.-127-4835G>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 224022	NM_005359.6(SMAD4):c.-127-3318A>G	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1268470	NM_005359.6(SMAD4):c.-127-650C>T	SMAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680783	NM_005359.6(SMAD4):c.-127-306G>A	SMAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224020	NM_005359.6(SMAD4):c.-127-135A>C	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1290408	NM_005359.6(SMAD4):c.-127-46C>T	SMAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279365	NM_005359.6(SMAD4):c.-127-14T>C	SMAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382523	NM_005359.6(SMAD4):c.-127-3T>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 891793	NM_005359.6(SMAD4):c.-127G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 516440	NM_005359.6(SMAD4):c.-109C>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 889358	NM_005359.6(SMAD4):c.-69G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GUncertain significance
Select item 422097	NM_005359.6(SMAD4):c.-53_-48del	SMAD4	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 390388	NM_005359.6(SMAD4):c.-39T>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389873	NM_005359.6(SMAD4):c.-28T>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380201	NM_005359.6(SMAD4):c.-20A>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 492456	NM_005359.6(SMAD4):c.-15G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 926847	NM_005359.6(SMAD4):c.-10del	SMAD4	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774516	NM_005359.6(SMAD4):c.-13A>G	SMAD4	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 385850	NM_005359.6(SMAD4):c.-11A>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2774517	NM_005359.6(SMAD4):c.-10A>T	SMAD4	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219871	NM_005359.6(SMAD4):c.-9C>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 3074351	NM_005359.6(SMAD4):c.-7del	SMAD4	Deletion (5 prime UTR variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 1478101	NM_005359.6(SMAD4):c.-5_3del (p.Met1fs)	SMAD4 (M1fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2774518	NM_005359.6(SMAD4):c.-3C>T	SMAD4	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486446	NM_005359.6(SMAD4):c.-3C>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GUncertain significance
Select item 327108	NM_005359.6(SMAD4):c.-3C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 2774519	NM_005359.6(SMAD4):c.-1A>C	SMAD4	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 136071	NM_005359.5(SMAD4):c.(?_-1)_249+?dup	SMAD4	Duplication	Generalized juvenile polyposis/juvenile polyposis coli	GLikely benign
Select item 422433	NM_005359.6(SMAD4):c.1A>G (p.Met1Val)	SMAD4 (M1V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 2179565	NM_005359.6(SMAD4):c.2T>C (p.Met1Thr)	SMAD4 (M1T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 936235	NM_005359.6(SMAD4):c.3G>A (p.Met1Ile)	SMAD4 (M1I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 640141	NM_005359.6(SMAD4):c.3G>C (p.Met1Ile)	SMAD4 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2094119	NM_005359.6(SMAD4):c.4G>C (p.Asp2His)	SMAD4 (D2H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 486980	NM_005359.6(SMAD4):c.4G>A (p.Asp2Asn)	SMAD4 (D2N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2782009	NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala)	SMAD4 (D2A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 1121733	NM_005359.6(SMAD4):c.6C>T (p.Asp2=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome	GLikely benign
Select item 580768	NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser)	SMAD4 (N3S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 423519	NM_005359.6(SMAD4):c.10_11del (p.Met4fs)	SMAD4 (M4fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 484791	NM_005359.6(SMAD4):c.9T>C (p.Asn3=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1365152	NM_005359.6(SMAD4):c.11T>C (p.Met4Thr)	SMAD4 (M4T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 1773976	NM_005359.6(SMAD4):c.14C>G (p.Ser5Cys)	SMAD4 (S5C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3069982	NM_005359.6(SMAD4):c.15T>C (p.Ser5=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely benign
Select item 484798	NM_005359.6(SMAD4):c.16A>G (p.Ile6Val)	SMAD4 (I6V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 820102	NM_005359.6(SMAD4):c.17T>C (p.Ile6Thr)	SMAD4 (I6T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1605099	NM_005359.6(SMAD4):c.18T>C (p.Ile6=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome	GLikely benign
Select item 963471	NM_005359.6(SMAD4):c.20C>G (p.Thr7Arg)	SMAD4 (T7R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 183733	NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SMAD4 (T7M)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +9 more	GConflicting classifications of pathogenicity
Select item 484810	NM_005359.6(SMAD4):c.21G>T (p.Thr7=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more	GLikely benign
Select item 183887	NM_005359.6(SMAD4):c.21G>A (p.Thr7=)	SMAD4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 1351575	NM_005359.6(SMAD4):c.23del (p.Asn8fs)	SMAD4 (N8fs)	Deletion (frameshift variant)	Juvenile polyposis syndrome	GPathogenic
Select item 230442	NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser)	SMAD4 (N8S)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more	GUncertain significance

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