SMAD2[gene] - 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	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +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	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 1177743	NM_005901.6(SMAD2):c.*93A>G	SMAD2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1525233	NM_005901.6(SMAD2):c.1387del (p.Cys463fs)	SMAD2 (C433fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1308032	NM_005901.6(SMAD2):c.1385G>A (p.Arg462His)	SMAD2 (R432H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521943	NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys)	SMAD2 (R462C +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6 +1 more	GUncertain significance
Select item 1771344	NM_005901.6(SMAD2):c.1383G>T (p.Val461=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2710734	NM_005901.6(SMAD2):c.1380A>G (p.Ser460=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1314651	NM_005901.6(SMAD2):c.1378T>A (p.Ser460Thr)	SMAD2 (S430T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2571929	NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu)	SMAD2 (P429L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104099	NM_005901.6(SMAD2):c.1376del (p.Pro459fs)	SMAD2 (P429fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1959963	NM_005901.6(SMAD2):c.1374C>A (p.Ser458=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1327531	NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)	SMAD2 (G457R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1468079	NM_005901.6(SMAD2):c.1360_1364del (p.Thr454fs)	SMAD2 (T454fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1411218	NM_005901.6(SMAD2):c.1348G>A (p.Asp450Asn)	SMAD2 (D450N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327530	NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser)	SMAD2 (L449S +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GPathogenic
Select item 1770091	NM_005901.6(SMAD2):c.1329T>C (p.Asn443=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2838928	NM_005901.6(SMAD2):c.1325T>G (p.Leu442Arg)	SMAD2 (L412R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1698345	NM_005901.6(SMAD2):c.1322A>C (p.His441Pro)	SMAD2 (H411P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845192	NM_005901.6(SMAD2):c.1318C>T (p.Leu440Phe)	SMAD2 (L410F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1769566	NM_005901.6(SMAD2):c.1308C>T (p.Cys436=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031308	NM_005901.6(SMAD2):c.1304C>G (p.Pro435Arg)	SMAD2 (P405R +1 more)	Single nucleotide variant (missense variant)	SMAD2-related condition	GUncertain significance
Select item 2505610	NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly)	SMAD2 (S403G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029730	NM_005901.6(SMAD2):c.1297A>C (p.Ser433Arg)	SMAD2 (S433R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695553	NM_005901.6(SMAD2):c.1294A>C (p.Thr432Pro)	SMAD2 (T402P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1769095	NM_005901.6(SMAD2):c.1290G>A (p.Thr430=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2787693	NM_005901.6(SMAD2):c.1289C>T (p.Thr430Met)	SMAD2 (T430M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997754	NM_005901.6(SMAD2):c.1287G>A (p.Gln429=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914906	NM_005901.6(SMAD2):c.1285C>G (p.Gln429Glu)	SMAD2 (Q399E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808441	NM_005901.6(SMAD2):c.1281-10T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306114	NM_005901.6(SMAD2):c.1281-11C>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1598862	NM_005901.6(SMAD2):c.1281-14A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2788986	NM_005901.6(SMAD2):c.1281-16G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221544	NM_005901.6(SMAD2):c.1281-136G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212690	NM_005901.6(SMAD2):c.1281-248A>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181129	NM_005901.6(SMAD2):c.1281-266C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197368	NM_005901.6(SMAD2):c.1281-317G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220775	NM_005901.6(SMAD2):c.1281-318C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224065	NM_005901.6(SMAD2):c.1280+202G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281287	NM_005901.6(SMAD2):c.1280+25A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1532243	NM_005901.6(SMAD2):c.1280+19G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641400	NM_005901.6(SMAD2):c.1280+16T>C	SMAD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1897333	NM_005901.6(SMAD2):c.1280+12A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2992726	NM_005901.6(SMAD2):c.1280+9T>C	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837327	NM_005901.6(SMAD2):c.1279C>T (p.Arg427Ter)	SMAD2 (R427* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2023953	NM_005901.6(SMAD2):c.1262G>A (p.Gly421Glu)	SMAD2 (G391E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592822	NM_005901.6(SMAD2):c.1245A>G (p.Arg415=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2732234	NM_005901.6(SMAD2):c.1234T>C (p.Cys412Arg)	SMAD2 (C382R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357831	NM_005901.6(SMAD2):c.1220A>C (p.Gln407Pro)	SMAD2 (Q377P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678810	NM_005901.6(SMAD2):c.1217A>G (p.Tyr406Cys)	SMAD2 (Y376C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3225157	NM_005901.6(SMAD2):c.1212C>T (p.Ala404=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2452585	NM_005901.6(SMAD2):c.1212C>A (p.Ala404=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3225156	NM_005901.6(SMAD2):c.1201G>C (p.Gly401Arg)	SMAD2 (G371R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2823893	NM_005901.6(SMAD2):c.1188G>A (p.Gln396=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695814	NM_005901.6(SMAD2):c.1179T>C (p.Leu393=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600987	NM_005901.6(SMAD2):c.1176T>C (p.Ala392=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1704672	NM_005901.6(SMAD2):c.1174G>A (p.Ala392Thr)	SMAD2 (A362T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843052	NM_005901.6(SMAD2):c.1166A>G (p.Glu389Gly)	SMAD2 (E389G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327533	NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)	SMAD2 (Q388R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755823	NM_005901.6(SMAD2):c.1161C>G (p.Asn387Lys)	SMAD2 (N387K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097434	NM_005901.6(SMAD2):c.1150A>G (p.Ile384Val)	SMAD2 (I354V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2566858	NM_005901.6(SMAD2):c.1137C>T (p.Gly379=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3016600	NM_005901.6(SMAD2):c.1136-5C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987346	NM_005901.6(SMAD2):c.1136-9T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875617	NM_005901.6(SMAD2):c.1136-9del	SMAD2	Deletion (intron variant)	not provided	GBenign
Select item 1614199	NM_005901.6(SMAD2):c.1136-10T>C	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638589	NM_005901.6(SMAD2):c.1136-13T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996610	NM_005901.6(SMAD2):c.1135+14A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939768	NM_005901.6(SMAD2):c.1135+12A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2577065	NM_005901.6(SMAD2):c.1135+6G>C	SMAD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2566857	NM_005901.6(SMAD2):c.1131A>C (p.Pro377=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2420070	NM_005901.6(SMAD2):c.1110T>C (p.Pro370=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1791369	NM_005901.6(SMAD2):c.1098T>C (p.Tyr366=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2049482	NM_005901.6(SMAD2):c.1088A>G (p.Asn363Ser)	SMAD2 (N333S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738550	NM_005901.6(SMAD2):c.1082A>G (p.Asn361Ser)	SMAD2 (N331S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327538	NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr)	SMAD2 (N331T)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GPathogenic
Select item 1779646	NM_005901.6(SMAD2):c.1059T>C (p.Ser353=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1722766	NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)	SMAD2 (S323R +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GLikely pathogenic
Select item 1612835	NM_005901.6(SMAD2):c.1050A>G (p.Leu350=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995224	NM_005901.6(SMAD2):c.1044G>A (p.Glu348=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1603184	NM_005901.6(SMAD2):c.1032A>G (p.Glu344=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1981364	NM_005901.6(SMAD2):c.1017C>T (p.Tyr339=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127304	NM_005901.6(SMAD2):c.1014A>T (p.Leu338Phe)	SMAD2 (L338F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811944	NM_005901.6(SMAD2):c.1000A>C (p.Arg334=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142775	NM_005901.6(SMAD2):c.999A>G (p.Gly333=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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