Related gene-specific medical variations for Gene (Select 4522) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215065	NM_005956.4(MTHFD1):c.2470G>A (p.Asp824Asn)	MTHFD1, ZBTB25 (D824N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044745	NM_005956.4(MTHFD1):c.*148A>C	MTHFD1, ZBTB25 (E954D)	Single nucleotide variant (missense variant +2 more)	MTHFD1-related condition	GBenign
Select item 3004182	NM_005956.4(MTHFD1):c.1311+12T>C	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989879	NM_005956.4(MTHFD1):c.2288C>T (p.Thr763Ile)	MTHFD1, ZBTB25 (T763I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985513	NM_005956.4(MTHFD1):c.2535T>G (p.Ala845=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971644	NM_005956.4(MTHFD1):c.1265-20A>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957913	NM_005956.4(MTHFD1):c.2676C>T (p.Arg892=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889021	NM_005956.4(MTHFD1):c.2619C>T (p.His873=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881351	NM_005956.4(MTHFD1):c.1311+18T>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871019	NM_005956.4(MTHFD1):c.2349G>C (p.Val783=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767338	NM_005956.4(MTHFD1):c.2640C>G (p.Val880=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762460	NM_005956.4(MTHFD1):c.2674C>T (p.Arg892Cys)	MTHFD1, ZBTB25 (R892C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2739847	NM_005956.4(MTHFD1):c.2280-4A>C	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2738637	NM_005956.4(MTHFD1):c.2555del (p.Tyr852fs)	MTHFD1, ZBTB25 (Y852fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2735713	NM_005956.4(MTHFD1):c.2718+9A>C	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731322	NM_005956.4(MTHFD1):c.2312G>C (p.Ser771Thr)	ZBTB25, MTHFD1 (S771T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685492	GRCh37/hg19 14q23.3(chr14:64876448-64926838)x1	MTHFD1	Copy number loss	not provided	GUncertain significance
Select item 2433814	NM_005956.4(MTHFD1):c.881T>C (p.Phe294Ser)	MTHFD1 (F294S)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GUncertain significance
Select item 2176279	NM_005956.4(MTHFD1):c.2661C>T (p.Pro887=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2171381	NM_005956.4(MTHFD1):c.1266T>A (p.Gly422=)	MTHFD1, LOC112272548	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131298	NM_005956.4(MTHFD1):c.2318T>A (p.Leu773His)	MTHFD1, ZBTB25 (L773H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086367	NM_005956.4(MTHFD1):c.2299C>G (p.Leu767Val)	MTHFD1, ZBTB25 (L767V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085779	NM_005956.4(MTHFD1):c.2400G>A (p.Gln800=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068238	NM_005956.4(MTHFD1):c.2584A>G (p.Ile862Val)	MTHFD1, ZBTB25 (I862V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052329	NM_005956.4(MTHFD1):c.2392C>A (p.Leu798Met)	MTHFD1, ZBTB25 (L798M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001525	NM_005956.4(MTHFD1):c.1311+15G>A	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981213	NM_005956.4(MTHFD1):c.2280-8C>A	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1968359	NM_005956.4(MTHFD1):c.2655T>C (p.Ile885=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954997	NM_005956.4(MTHFD1):c.2718+19G>T	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951427	NM_005956.4(MTHFD1):c.2347G>A (p.Val783Met)	MTHFD1, ZBTB25 (V783M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1937294	NM_005956.4(MTHFD1):c.2280-20A>G	ZBTB25, MTHFD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1935886	NM_005956.4(MTHFD1):c.2718G>A (p.Thr906=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1921238	NM_005956.4(MTHFD1):c.2307C>T (p.Leu769=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901122	NM_005956.4(MTHFD1):c.2628G>A (p.Glu876=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1878421	NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)	MTHFD1, ZBTB25 (Q877*)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1696279	NM_005956.4(MTHFD1):c.2529del (p.Glu844fs)	MTHFD1, ZBTB25 (E844fs)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1664980	NM_005956.4(MTHFD1):c.1308A>G (p.Glu436=)	LOC112272548, MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642104	NM_005956.4(MTHFD1):c.2667C>T (p.Arg889=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1637692	NM_005956.4(MTHFD1):c.2718+17A>G	ZBTB25, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635557	NM_005956.4(MTHFD1):c.2280-16A>G	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1631721	NM_005956.4(MTHFD1):c.2718+18G>A	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605862	NM_005956.4(MTHFD1):c.2565+17T>C	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602226	NM_005956.4(MTHFD1):c.2427C>T (p.Pro809=)	MTHFD1, ZBTB25 (G74R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1591752	NM_005956.4(MTHFD1):c.2529C>T (p.Pro843=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1588170	NM_005956.4(MTHFD1):c.2719-17G>A	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1553727	NM_005956.4(MTHFD1):c.1311+11C>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547348	NM_005956.4(MTHFD1):c.2595T>C (p.Ala865=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1547322	NM_005956.4(MTHFD1):c.2739C>G (p.Leu913=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529720	NM_005956.4(MTHFD1):c.2682C>T (p.Ser894=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525653	NM_005956.4(MTHFD1):c.1311+3A>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1525350	NM_005956.4(MTHFD1):c.2675G>A (p.Arg892His)	MTHFD1, ZBTB25 (R892H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519312	NM_005956.4(MTHFD1):c.2314C>T (p.Arg772Cys)	MTHFD1, ZBTB25 (R772C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516903	NM_005956.4(MTHFD1):c.2482A>G (p.Ile828Val)	MTHFD1, ZBTB25 (I828V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509514	NM_005956.4(MTHFD1):c.1311+5dup	MTHFD1, LOC112272548	Duplication (intron variant)	not provided	GUncertain significance
Select item 1509106	NM_005956.4(MTHFD1):c.2590A>G (p.Met864Val)	MTHFD1, ZBTB25 (M864V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504308	NM_005956.4(MTHFD1):c.2801T>C (p.Leu934Ser)	MTHFD1, ZBTB25 (L934S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1495194	NM_005956.4(MTHFD1):c.2666G>A (p.Arg889His)	ZBTB25, MTHFD1 (R889H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478145	NM_005956.4(MTHFD1):c.2576A>G (p.Asn859Ser)	MTHFD1, ZBTB25 (N859S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1463780	NM_005956.4(MTHFD1):c.2684T>C (p.Val895Ala)	MTHFD1, ZBTB25 (V895A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1463522	NM_005956.4(MTHFD1):c.2412A>G (p.Arg804=)	MTHFD1, ZBTB25 (S79P)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1449844	NM_005956.4(MTHFD1):c.2665C>T (p.Arg889Cys)	MTHFD1, ZBTB25 (R889C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449141	NM_005956.4(MTHFD1):c.2283G>A (p.Thr761=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1425017	NM_005956.4(MTHFD1):c.2558C>T (p.Thr853Met)	MTHFD1, ZBTB25 (T853M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1418388	NM_005956.4(MTHFD1):c.2648G>A (p.Gly883Asp)	ZBTB25, MTHFD1 (G883D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414178	NM_005956.4(MTHFD1):c.2530G>A (p.Glu844Lys)	MTHFD1, ZBTB25 (E844K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1413099	NM_005956.4(MTHFD1):c.2457+4G>C	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1408132	NM_005956.4(MTHFD1):c.2719-6T>A	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1407442	NM_005956.4(MTHFD1):c.2747G>A (p.Arg916Gln)	MTHFD1, ZBTB25 (R916Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1405314	NM_005956.4(MTHFD1):c.2404G>A (p.Val802Ile)	MTHFD1, ZBTB25 (V802I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1400804	NM_005956.4(MTHFD1):c.2717C>T (p.Thr906Met)	MTHFD1, ZBTB25 (T906M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395674	NM_005956.4(MTHFD1):c.2353T>C (p.Cys785Arg)	MTHFD1, ZBTB25 (C785R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394974	NM_005956.4(MTHFD1):c.2718+20G>T	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1393123	NM_005956.4(MTHFD1):c.2311A>G (p.Ser771Gly)	MTHFD1, ZBTB25 (S771G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385508	NM_005956.4(MTHFD1):c.2565+13T>G	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1385065	NM_005956.4(MTHFD1):c.2755T>A (p.Phe919Ile)	MTHFD1, ZBTB25 (F919I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1359353	NM_005956.4(MTHFD1):c.2548G>T (p.Glu850Ter)	MTHFD1, ZBTB25 (E850*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1348142	NM_005956.4(MTHFD1):c.2668G>A (p.Asp890Asn)	ZBTB25, MTHFD1 (D890N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319857	NM_005956.4(MTHFD1):c.24C>A (p.Asn8Lys)	MTHFD1 (N8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166610	NM_005956.4(MTHFD1):c.2282C>T (p.Thr761Met)	ZBTB25, MTHFD1 (T761M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1160429	NM_005956.4(MTHFD1):c.2458-7G>A	ZBTB25, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1030041	NM_005956.4(MTHFD1):c.1265-4C>T	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +1 more	GConflicting classifications of pathogenicity
Select item 789060	NM_005956.4(MTHFD1):c.1311+8A>G	LOC112272548, MTHFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787946	NM_005956.4(MTHFD1):c.2566-4C>T	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 781286	NM_005956.4(MTHFD1):c.2315G>A (p.Arg772His)	MTHFD1, ZBTB25 (R772H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 779686	NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe)	MTHFD1, ZBTB25 (L769F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 761852	NM_005956.4(MTHFD1):c.1269C>T (p.Gly423=)	LOC112272548, MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755383	NM_005956.4(MTHFD1):c.2463A>T (p.Pro821=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 747323	NM_005956.4(MTHFD1):c.2679C>G (p.Ala893=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738664	NM_005956.4(MTHFD1):c.2408A>G (p.Gln803Arg)	MTHFD1, ZBTB25 (Q803R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 446308	NG_012450.1:g.(45534_?)_(?_47555)del	MTHFD1	Deletion	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 90