"GeneDx"[submitter] AND "MTHFR"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
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 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 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
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)	not provided +2 more	GBenign
Select item 194071	NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)	MTHFR (R594Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign; other
Select item 1224887	NM_005957.5(MTHFR):c.1753-48C>G	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177028	NM_005957.5(MTHFR):c.1752+146T>C	MTHFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224664	NM_005957.5(MTHFR):c.1752+79G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234902	NM_005957.5(MTHFR):c.1752+45G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 660609	NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	MTHFR (R567* +1 more)	Single nucleotide variant (nonsense)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1253969	NM_005957.5(MTHFR):c.1632+225G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227752	NM_005957.5(MTHFR):c.1632+94G>C	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170841	NM_005957.5(MTHFR):c.1632+35G>A	MTHFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1700869	NM_005957.5(MTHFR):c.1632+32C>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 187897	NM_005957.5(MTHFR):c.1632+2T>G	MTHFR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive +4 more	GPathogenic/Likely pathogenic
Select item 848996	NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)	MTHFR (E514fs +1 more)	Microsatellite (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 546036	NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)	MTHFR (L513* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2163971	NM_005957.5(MTHFR):c.1531-12T>A	MTHFR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1233971	NM_005957.5(MTHFR):c.1531-80G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691754	NM_005957.5(MTHFR):c.1531-115C>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327700	NM_005957.5(MTHFR):c.1530+284C>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700993	NM_005957.5(MTHFR):c.1530+49G>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 466270	NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)	MTHFR	Single nucleotide variant (synonymous variant)	Neural tube defects, folate-sensitive +2 more	GPathogenic
Select item 534629	NM_005957.5(MTHFR):c.1476G>A (p.Pro492=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more	GBenign/Likely benign
Select item 286247	NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)	MTHFR (E511L +1 more)	Indel (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 450772	NM_005957.5(MTHFR):c.1365G>A (p.Trp455Ter)	MTHFR (W455* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 515933	NM_005957.5(MTHFR):c.1305= (p.Phe435=)	MTHFR	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 167306	NM_005957.5(MTHFR):c.1305C>T (p.Phe435=)	MTHFR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3521	NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	MTHFR (E470A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign; other
Select item 579195	NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)	MTHFR (W421C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 511714	NM_005957.5(MTHFR):c.1167-5G>T	MTHFR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1177041	NM_005957.5(MTHFR):c.1167-76G>T	MTHFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1177042	NM_005957.5(MTHFR):c.1166+31C>T	MTHFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 292238	NM_005957.5(MTHFR):c.1056C>T (p.Ser352=)	MTHFR	Single nucleotide variant (synonymous variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more	GBenign
Select item 1295241	NM_005957.5(MTHFR):c.1031+117G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307661	NM_005957.5(MTHFR):c.907G>A (p.Val303Met)	MTHFR (V303M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287060	NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys)	MTHFR (E285K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1232386	NM_005957.5(MTHFR):c.780+179C>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2442645	NM_005957.5(MTHFR):c.713G>A (p.Arg238His)	MTHFR (R238H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499744	NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)	MTHFR (D223N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 1295236	NM_005957.5(MTHFR):c.586+152T>C	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295234	NM_005957.5(MTHFR):c.586+149A>G	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 187876	NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	MTHFR (R183Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1303270	NM_005957.5(MTHFR):c.526_529delinsCCAGGGAGGCTTC (p.Val176_Asp177delinsProGlyArgLeuHis)	MTHFR	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1231743	NM_005957.5(MTHFR):c.476-76G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180162	NM_005957.5(MTHFR):c.476-79G>A	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300897	NM_005957.5(MTHFR):c.476-86G>C	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249614	NM_005957.5(MTHFR):c.476-304A>G	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300842	NM_005957.5(MTHFR):c.476-305C>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3519	NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	MTHFR (R157Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1329752	NM_005957.5(MTHFR):c.237-208C>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295235	NM_005957.5(MTHFR):c.236+170dup	MTHFR	Duplication (intron variant)	not provided	GBenign
Select item 1237104	NM_005957.5(MTHFR):c.236+160T>C	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1068525	NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)	MTHFR (R109* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 570071	NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	MTHFR (R52Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 292246	NM_005957.5(MTHFR):c.117C>T (p.Pro39=)	MTHFR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1303809	NM_005957.5(MTHFR):c.82G>A (p.Asp28Asn)	MTHFR (D28N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413418	NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)	MTHFR (N12K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504083	NM_005957.5(MTHFR):c.1A>G (p.Met1Val)	MTHFR (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1295240	NM_005957.5(MTHFR):c.-13-91C>T	MTHFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic

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Items: 69