4522[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 1590480	NM_005956.4(MTHFD1):c.18C>T (p.Ile6=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2103665	NM_005956.4(MTHFD1):c.29A>G (p.Lys10Arg)	MTHFD1 (K10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775991	NM_005956.4(MTHFD1):c.30G>A (p.Lys10=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642866	NM_005956.4(MTHFD1):c.41+14_41+16del	MTHFD1	Deletion (intron variant)	not provided	GLikely benign
Select item 2794471	NM_005956.4(MTHFD1):c.41+15TTG[2]	MTHFD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 791428	NM_005956.4(MTHFD1):c.53C>T (p.Ala18Val)	MTHFD1 (A18V)	Single nucleotide variant (missense variant)	MTHFD1-related disorder +1 more	GLikely benign
Select item 1610331	NM_005956.4(MTHFD1):c.54G>A (p.Ala18=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351536	NM_005956.4(MTHFD1):c.68A>G (p.Gln23Arg)	MTHFD1 (Q23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480427	NM_005956.4(MTHFD1):c.104C>T (p.Thr35Ile)	MTHFD1 (T35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992516	NM_005956.4(MTHFD1):c.109C>T (p.Arg37Cys)	MTHFD1 (R37C)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +1 more	GUncertain significance
Select item 2069550	NM_005956.4(MTHFD1):c.110G>A (p.Arg37His)	MTHFD1 (R37H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1948219	NM_005956.4(MTHFD1):c.120A>G (p.Ile40Met)	MTHFD1 (I40M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968514	NM_005956.4(MTHFD1):c.123A>G (p.Leu41=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966611	NM_005956.4(MTHFD1):c.126+8G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797638	NM_005956.4(MTHFD1):c.126+13T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629925	NM_005956.4(MTHFD1):c.127-18A>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813162	NM_005956.4(MTHFD1):c.127-12T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931774	NM_005956.4(MTHFD1):c.127-9T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421605	NM_005956.4(MTHFD1):c.135C>T (p.Asn45=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446306	NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	MTHFD1 (S49F)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GPathogenic/Likely pathogenic
Select item 2813712	NM_005956.4(MTHFD1):c.153_154del (p.Ile53fs)	MTHFD1 (I53fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 446309	NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro)	MTHFD1 (L51P)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GLikely pathogenic
Select item 2243940	NM_005956.4(MTHFD1):c.161A>G (p.Asn54Ser)	MTHFD1 (N54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1113442	NM_005956.4(MTHFD1):c.186+4dup	MTHFD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1360549	NM_005956.4(MTHFD1):c.186+5C>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1911457	NM_005956.4(MTHFD1):c.186+6G>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1382271	NM_005956.4(MTHFD1):c.186+6G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1589881	NM_005956.4(MTHFD1):c.186+10G>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803690	NM_005956.4(MTHFD1):c.186+11A>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663096	NM_005956.4(MTHFD1):c.186+15G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966760	NM_005956.4(MTHFD1):c.186+18G>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962139	NM_005956.4(MTHFD1):c.187-17T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540426	NM_005956.4(MTHFD1):c.187-16A>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001342	NM_005956.4(MTHFD1):c.187-15A>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1479054	NM_005956.4(MTHFD1):c.187-15A>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1606830	NM_005956.4(MTHFD1):c.187-14T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791150	NM_005956.4(MTHFD1):c.192G>A (p.Gly64=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860410	NM_005956.4(MTHFD1):c.210T>C (p.Ile70=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960973	NM_005956.4(MTHFD1):c.213G>T (p.Lys71Asn)	MTHFD1 (K71N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931581	NM_005956.4(MTHFD1):c.218C>G (p.Pro73Arg)	MTHFD1 (P73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439225	NM_005956.4(MTHFD1):c.223A>T (p.Thr75Ser)	MTHFD1 (T75S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215057	NM_005956.4(MTHFD1):c.239A>T (p.Glu80Val)	MTHFD1 (E80V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691633	NM_005956.4(MTHFD1):c.240+6C>A	MTHFD1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1956488	NM_005956.4(MTHFD1):c.240+9T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2026791	NM_005956.4(MTHFD1):c.240+16T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905865	NM_005956.4(MTHFD1):c.240+19A>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620260	NM_005956.4(MTHFD1):c.241-17T>C	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551243	NM_005956.4(MTHFD1):c.241-13G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2516794	NM_005956.4(MTHFD1):c.275C>A (p.Ser92Tyr)	MTHFD1 (S92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1586366	NM_005956.4(MTHFD1):c.276T>G (p.Ser92=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494322	NM_005956.4(MTHFD1):c.295G>A (p.Val99Met)	MTHFD1 (V99M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488993	NM_005956.4(MTHFD1):c.298C>T (p.Gln100Ter)	MTHFD1 (Q100*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1909697	NM_005956.4(MTHFD1):c.306T>G (p.Pro102=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769546	NM_005956.4(MTHFD1):c.316G>T (p.Glu106Ter)	MTHFD1 (E106*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1961289	NM_005956.4(MTHFD1):c.331A>T (p.Thr111Ser)	MTHFD1 (T111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739648	NM_005956.4(MTHFD1):c.336A>G (p.Glu112=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391308	NM_005956.4(MTHFD1):c.341T>C (p.Val114Ala)	MTHFD1 (V114A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700745	NM_005956.4(MTHFD1):c.351T>A (p.Ala117=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472470	NM_005956.4(MTHFD1):c.352A>G (p.Ile118Val)	MTHFD1 (I118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369518	NM_005956.4(MTHFD1):c.353T>C (p.Ile118Thr)	MTHFD1 (I118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019602	NM_005956.4(MTHFD1):c.378-6T>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018803	NM_005956.4(MTHFD1):c.381G>A (p.Leu127=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1062029	NM_005956.4(MTHFD1):c.388A>G (p.Ile130Val)	MTHFD1 (I130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479363	NM_005956.4(MTHFD1):c.394G>A (p.Ala132Thr)	MTHFD1 (A132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 403114	NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg)	MTHFD1 (K134R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1919636	NM_005956.4(MTHFD1):c.406G>A (p.Ala136Thr)	MTHFD1 (A136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365808	NM_005956.4(MTHFD1):c.407C>G (p.Ala136Gly)	MTHFD1 (A136G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942766	NM_005956.4(MTHFD1):c.408T>A (p.Ala136=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047664	NM_005956.4(MTHFD1):c.428G>C (p.Cys143Ser)	MTHFD1 (C143S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953090	NM_005956.4(MTHFD1):c.443C>T (p.Thr148Met)	MTHFD1 (T148M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907916	NM_005956.4(MTHFD1):c.444G>A (p.Thr148=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567052	NM_005956.4(MTHFD1):c.456C>T (p.Cys152=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031594	NM_005956.4(MTHFD1):c.468C>T (p.Ile156=)	MTHFD1	Single nucleotide variant (synonymous variant)	MTHFD1-related disorder	GLikely benign
Select item 1951280	NM_005956.4(MTHFD1):c.478G>C (p.Gly160Arg)	MTHFD1 (G160R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650022	NM_005956.4(MTHFD1):c.478+11C>T	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651707	NM_005956.4(MTHFD1):c.478+16C>G	MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956332	NM_005956.4(MTHFD1):c.479-18G>A	MTHFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2431552	NM_005956.4(MTHFD1):c.479-2A>G	MTHFD1	Single nucleotide variant (splice acceptor variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GLikely pathogenic
Select item 1369012	NM_005956.4(MTHFD1):c.479G>A (p.Gly160Glu)	MTHFD1 (G160E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191265	NM_005956.4(MTHFD1):c.486G>A (p.Pro162=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736409	NM_005956.4(MTHFD1):c.492C>T (p.Ala164=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1897217	NM_005956.4(MTHFD1):c.493G>A (p.Gly165Arg)	MTHFD1 (G165R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628416	NM_005956.4(MTHFD1):c.498G>A (p.Arg166=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011473	NM_005956.4(MTHFD1):c.507G>A (p.Val169=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522674	NM_005956.4(MTHFD1):c.517C>G (p.Arg173Gly)	MTHFD1 (R173G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446303	NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)	MTHFD1 (R173C)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +2 more	GConflicting classifications of pathogenicity
Select item 2181073	NM_005956.4(MTHFD1):c.518G>A (p.Arg173His)	MTHFD1 (R173H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921938	NM_005956.4(MTHFD1):c.540G>A (p.Pro180=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897108	NM_005956.4(MTHFD1):c.567T>C (p.Asn189=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970015	NM_005956.4(MTHFD1):c.573A>G (p.Thr191=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576901	NM_005956.4(MTHFD1):c.594G>A (p.Lys198=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713367	NM_005956.4(MTHFD1):c.599C>T (p.Ala200Val)	MTHFD1 (A200V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1658898	NM_005956.4(MTHFD1):c.609T>C (p.Asp203=)	MTHFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360708	NM_005956.4(MTHFD1):c.610G>A (p.Glu204Lys)	MTHFD1 (E204K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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