4524[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 150812	GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3	AGTRAP, C1orf167 +28 more	Copy number gain	See cases	GUncertain significance
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 292153	NM_005957.5(MTHFR):c.*4644dup	C1orf167, MTHFR	Duplication (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GBenign
Select item 292157	NM_005957.5(MTHFR):c.*4489T>C	C1orf167, MTHFR	Single nucleotide variant (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292166	NM_005957.5(MTHFR):c.4076_4077dup	C1orf167, MTHFR	Duplication (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292165	NM_005957.5(MTHFR):c.4070_4077del	C1orf167, MTHFR	Deletion (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive +1 more	GUncertain significance
Select item 292164	NM_005957.5(MTHFR):c.4074_4077del	C1orf167, MTHFR	Deletion (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GLikely benign
Select item 292167	NM_005957.5(MTHFR):c.4058_4061del	C1orf167, MTHFR	Deletion (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292189	NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn)	C1orf167, MTHFR (S1275N)	Single nucleotide variant (missense variant +1 more)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292196	NM_005957.5(MTHFR):c.2474_2476del	MTHFR, C1orf167 (L1303del)	Deletion (inframe_deletion +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292197	NM_005957.5(MTHFR):c.*2456G>A	C1orf167, MTHFR	Single nucleotide variant (synonymous variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292205	NM_005957.5(MTHFR):c.*1531C>T	C1orf167, MTHFR	Single nucleotide variant (3 prime UTR variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292212	NM_005957.5(MTHFR):c.*1018A>G	MTHFR	Single nucleotide variant (3 prime UTR variant)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292218	NM_005957.5(MTHFR):c.*702del	MTHFR	Deletion (3 prime UTR variant)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292222	NM_005957.5(MTHFR):c.372_373insTACC	MTHFR	Insertion (3 prime UTR variant)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292223	NM_005957.5(MTHFR):c.*372A>C	MTHFR	Single nucleotide variant (3 prime UTR variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GBenign
Select item 292224	NM_005957.5(MTHFR):c.367_369dup	MTHFR	Duplication (3 prime UTR variant)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 292225	NM_005957.5(MTHFR):c.*174del	MTHFR	Deletion (3 prime UTR variant)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 2638240	NM_005957.5(MTHFR):c.*118C>G	MTHFR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2638241	NM_005957.5(MTHFR):c.*41C>T	MTHFR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 194070	NM_005957.5(MTHFR):c.*7G>A	MTHFR	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1540182	NM_005957.5(MTHFR):c.1970G>A (p.Ter657=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 975602	NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)	MTHFR	Single nucleotide variant (stop lost)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 187906	NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg)	MTHFR	Single nucleotide variant (stop lost)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 1087028	NM_005957.5(MTHFR):c.1968A>G (p.Pro656=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 498489	NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)	MTHFR	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +6 more	GBenign/Likely benign
Select item 281891	NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)	MTHFR (T653M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more	GBenign
Select item 1596851	NM_005957.5(MTHFR):c.1953A>G (p.Arg651=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2196090	NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys)	MTHFR (R651K +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1783231	NM_005957.5(MTHFR):c.1950G>C (p.Ala650=)	MTHFR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1147303	NM_005957.5(MTHFR):c.1950G>A (p.Ala650=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1432112	NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val)	MTHFR (A650V +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1996809	NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys)	MTHFR (N689K +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1148112	NM_005957.5(MTHFR):c.1947T>C (p.Asn649=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2161570	NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp)	MTHFR (N649D +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GUncertain significance
Select item 1904673	NM_005957.5(MTHFR):c.1944G>A (p.Gln648=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 697539	NM_005957.5(MTHFR):c.1941C>A (p.Thr647=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GBenign
Select item 1716912	NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys)	MTHFR (R645K +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 534628	NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys)	MTHFR (N644K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GBenign
Select item 752531	NM_005957.5(MTHFR):c.1918T>C (p.Leu640=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1556575	NM_005957.5(MTHFR):c.1905G>A (p.Val635=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1145777	NM_005957.5(MTHFR):c.1902G>A (p.Gln634=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1671663	NM_005957.5(MTHFR):c.1896C>T (p.Leu632=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2433816	NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr)	MTHFR (C631Y +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 792763	NM_005957.5(MTHFR):c.1887C>T (p.Asp629=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2068217	NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly)	MTHFR (D670G +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 187905	NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro)	MTHFR (L628P +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2713655	NM_005957.5(MTHFR):c.1878C>T (p.Phe626=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1144280	NM_005957.5(MTHFR):c.1875C>T (p.Asp625=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2199038	NM_005957.5(MTHFR):c.1866G>A (p.Val622=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1608970	NM_005957.5(MTHFR):c.1863G>C (p.Leu621=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2433817	NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys)	MTHFR (N620K +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 2224765	NM_005957.5(MTHFR):c.1859A>G (p.Asn620Ser)	MTHFR (N660S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1125719	NM_005957.5(MTHFR):c.1857C>T (p.Val619=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1455663	NM_005957.5(MTHFR):c.1852del (p.Leu618fs)	MTHFR (L618fs +1 more)	Deletion (frameshift variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 3012397	NM_005957.5(MTHFR):c.1845C>T (p.Asn615=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1415022	NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn)	MTHFR (D655N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1080275	NM_005957.5(MTHFR):c.1839C>T (p.His613=)	MTHFR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1124316	NM_005957.5(MTHFR):c.1836C>T (p.Ile612=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2157256	NM_005957.5(MTHFR):c.1833C>T (p.Tyr611=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 794841	NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys)	MTHFR (Y611C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2857373	NM_005957.5(MTHFR):c.1830G>A (p.Gln610=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2676854	NM_005957.5(MTHFR):c.1828del (p.Gln610fs)	MTHFR (Q610fs +2 more)	Deletion (frameshift variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2568294	NM_005957.5(MTHFR):c.1823T>A (p.Ile608Asn)	MTHFR (I648N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2137259	NM_005957.5(MTHFR):c.1817G>A (p.Arg606His)	MTHFR (R606H +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1921392	NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys)	MTHFR (R647C +2 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 720020	NM_005957.5(MTHFR):c.1815C>T (p.Ser605=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1665956	NM_005957.5(MTHFR):c.1812G>A (p.Pro604=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 1780596	NM_005957.5(MTHFR):c.1811C>T (p.Pro604Leu)	MTHFR (P645L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 187904	NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys)	MTHFR (S603C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 2031522	NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del)	MTHFR (E602del +2 more)	Microsatellite (inframe_deletion +1 more)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1121129	NM_005957.5(MTHFR):c.1806G>A (p.Glu602=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2142804	NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)	MTHFR (E602S +2 more)	Inversion (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 2769387	NM_005957.5(MTHFR):c.1803G>A (p.Glu601=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely benign
Select item 2371414	NM_005957.5(MTHFR):c.1800G>T (p.Glu600Asp)	MTHFR (E640D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 187903	NM_005957.5(MTHFR):c.1797_1798delinsGT (p.Tyr599_Glu600delinsTer)	MTHFR	Indel (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GPathogenic
Select item 1699168	NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys)	MTHFR (Y599C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 1333559	NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg)	MTHFR (L598R +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GLikely pathogenic
Select item 187902	NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro)	MTHFR (L598P +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance

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