ClinVar for Gene (Select 29958) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341080	NM_013391.3(DMGDH):c.236T>G (p.Leu79Arg)	DMGDH (L79R)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	GLikely pathogenic
Select item 3341079	NM_013391.3(DMGDH):c.269G>A (p.Trp90Ter)	DMGDH (W90*)	Single nucleotide variant (nonsense +1 more)	Dimethylglycine dehydrogenase deficiency	GLikely pathogenic
Select item 3272397	NM_013391.3(DMGDH):c.435T>A (p.Asp145Glu)	DMGDH (D145E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272396	NM_013391.3(DMGDH):c.2140G>A (p.Ala714Thr)	DMGDH (A714T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272395	NM_013391.3(DMGDH):c.1031G>A (p.Arg344Gln)	DMGDH (R344Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272394	NM_013391.3(DMGDH):c.1214G>T (p.Gly405Val)	DMGDH (G405V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272392	NM_013391.3(DMGDH):c.710G>C (p.Gly237Ala)	DMGDH (G237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272391	NM_013391.3(DMGDH):c.1532G>A (p.Arg511His)	DMGDH (R511H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272390	NM_013391.3(DMGDH):c.1559C>T (p.Ser520Leu)	DMGDH (S520L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083090	NM_013391.3(DMGDH):c.857G>A (p.Arg286Gln)	DMGDH (R286Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083089	NM_013391.3(DMGDH):c.53C>T (p.Pro18Leu)	DMGDH (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083088	NM_013391.3(DMGDH):c.536A>G (p.Asn179Ser)	DMGDH (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083087	NM_013391.3(DMGDH):c.2566C>T (p.Arg856Trp)	DMGDH, LOC126807431 (R856W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083086	NM_013391.3(DMGDH):c.2450A>T (p.Tyr817Phe)	DMGDH, LOC126807431 (Y817F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083085	NM_013391.3(DMGDH):c.2351C>T (p.Pro784Leu)	DMGDH (P784L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083084	NM_013391.3(DMGDH):c.1918G>C (p.Val640Leu)	DMGDH (V640L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083083	NM_013391.3(DMGDH):c.1829A>C (p.Glu610Ala)	DMGDH (E610A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083082	NM_013391.3(DMGDH):c.1726C>G (p.Arg576Gly)	DMGDH (R576G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083081	NM_013391.3(DMGDH):c.1601T>C (p.Leu534Pro)	DMGDH (L534P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083080	NM_013391.3(DMGDH):c.1361T>C (p.Ile454Thr)	DMGDH (I454T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058304	NM_013391.3(DMGDH):c.101+10G>T	DMGDH	Single nucleotide variant (intron variant)	DMGDH-related disorder	GLikely benign
Select item 3051362	NM_013391.3(DMGDH):c.557A>G (p.Tyr186Cys)	DMGDH (Y186C)	Single nucleotide variant (missense variant)	DMGDH-related disorder	GLikely benign
Select item 3049191	NM_013391.3(DMGDH):c.1814+10C>T	DMGDH	Single nucleotide variant (intron variant)	DMGDH-related disorder	GLikely benign
Select item 3046286	NM_013391.3(DMGDH):c.2261T>C (p.Phe754Ser)	DMGDH (F754S)	Single nucleotide variant (missense variant)	DMGDH-related disorder	GBenign
Select item 3040607	NM_013391.3(DMGDH):c.69C>T (p.Pro23=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	DMGDH-related disorder	GLikely benign
Select item 3037136	NM_013391.3(DMGDH):c.1429A>C (p.Arg477=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	DMGDH-related disorder	GLikely benign
Select item 3034483	NM_013391.3(DMGDH):c.315G>A (p.Leu105=)	DMGDH	Single nucleotide variant (synonymous variant)	DMGDH-related disorder	GLikely benign
Select item 2655556	NM_013391.3(DMGDH):c.335G>T (p.Ser112Ile)	DMGDH (S112I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655555	NM_013391.3(DMGDH):c.893A>C (p.Tyr298Ser)	DMGDH (Y298S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2655554	NM_013391.3(DMGDH):c.2545T>C (p.Leu849=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605867	NM_013391.3(DMGDH):c.2213T>G (p.Leu738Trp)	DMGDH (L738W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596338	NM_013391.3(DMGDH):c.800C>T (p.Pro267Leu)	DMGDH (P267L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557014	NM_013391.3(DMGDH):c.189T>A (p.Ser63Arg)	DMGDH (S63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551980	NM_013391.3(DMGDH):c.1727G>A (p.Arg576Gln)	DMGDH (R576Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525560	NM_013391.3(DMGDH):c.1180G>T (p.Ala394Ser)	DMGDH (A394S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514207	NM_013391.3(DMGDH):c.1132A>G (p.Ile378Val)	DMGDH (I378V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487392	NM_013391.3(DMGDH):c.2155C>A (p.Arg719Ser)	DMGDH (R719S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477286	NM_013391.3(DMGDH):c.1784C>G (p.Thr595Ser)	DMGDH (T595S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474261	NM_013391.3(DMGDH):c.1292G>A (p.Arg431His)	DMGDH (R431H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462678	NM_013391.3(DMGDH):c.694G>T (p.Val232Phe)	DMGDH (V232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442124	NM_013391.3(DMGDH):c.1531C>T (p.Arg511Cys)	DMGDH (R511C)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	GUncertain significance
Select item 2402753	NM_013391.3(DMGDH):c.1889T>C (p.Leu630Pro)	DMGDH (L630P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398978	NM_013391.3(DMGDH):c.1676T>G (p.Ile559Ser)	DMGDH (I559S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394969	NM_013391.3(DMGDH):c.1325A>T (p.Glu442Val)	DMGDH (E442V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383819	NM_013391.3(DMGDH):c.1402A>G (p.Thr468Ala)	DMGDH (T468A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369611	NM_013391.3(DMGDH):c.142G>A (p.Asp48Asn)	DMGDH (D48N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365373	NM_013391.3(DMGDH):c.1384C>T (p.Arg462Trp)	DMGDH (R462W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353517	NM_013391.3(DMGDH):c.1157A>G (p.Gln386Arg)	DMGDH (Q386R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334809	NM_013391.3(DMGDH):c.2075T>C (p.Val692Ala)	DMGDH (V692A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331329	NM_013391.3(DMGDH):c.931C>T (p.Pro311Ser)	DMGDH (P311S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329665	NM_013391.3(DMGDH):c.146G>A (p.Arg49Lys)	DMGDH (R49K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320621	NM_013391.3(DMGDH):c.359A>G (p.Glu120Gly)	DMGDH (E120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298479	NM_013391.3(DMGDH):c.954G>A (p.Met318Ile)	DMGDH (M318I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292874	NM_013391.3(DMGDH):c.1783A>T (p.Thr595Ser)	DMGDH (T595S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281972	NM_013391.3(DMGDH):c.211G>A (p.Ala71Thr)	DMGDH (A71T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280484	NM_013391.3(DMGDH):c.1291C>T (p.Arg431Cys)	DMGDH (R431C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266134	NM_013391.3(DMGDH):c.1324G>A (p.Glu442Lys)	DMGDH (E442K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243539	NM_013391.3(DMGDH):c.1826A>T (p.Glu609Val)	DMGDH (E609V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211814	NM_013391.3(DMGDH):c.1030C>G (p.Arg344Gly)	DMGDH (R344G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209077	NM_013391.3(DMGDH):c.902G>A (p.Arg301Gln)	DMGDH (R301Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	Copy number loss	not provided	GUncertain significance
Select item 1691193	NM_013391.3(DMGDH):c.101+143A>T	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1340534	GRCh37/hg19 5q14.1(chr5:78364368-78591431)x3	BHMT, BHMT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340177	GRCh37/hg19 5q14.1(chr5:78196511-78445636)x1	ARSB, BHMT +2 more	Copy number loss	not provided	GUncertain significance
Select item 1318070	NM_013391.3(DMGDH):c.2250+135T>C	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317968	NM_013391.3(DMGDH):c.1684-22A>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316293	NM_013391.3(DMGDH):c.277-89A>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316286	NM_013391.3(DMGDH):c.2032+95TG[2]	DMGDH	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1301702	NM_013391.3(DMGDH):c.696del (p.Glu233fs)	DMGDH (E233fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1292171	NM_013391.3(DMGDH):c.1518-116_1518-102del	DMGDH	Deletion (intron variant)	not provided	GBenign
Select item 1292111	NM_013391.3(DMGDH):c.994+65A>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285801	NM_013391.3(DMGDH):c.2385+46dup	DMGDH	Duplication (intron variant)	not provided	GBenign
Select item 1276841	NM_013391.3(DMGDH):c.2251-133A>T	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270173	NM_013391.3(DMGDH):c.864G>C (p.Leu288=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1258618	NM_013391.3(DMGDH):c.746-36A>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257035	NM_013391.3(DMGDH):c.375+26C>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252301	NM_013391.3(DMGDH):c.2251-96T>C	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247828	NM_013391.3(DMGDH):c.375+121A>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241076	NM_013391.3(DMGDH):c.2251-24C>T	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229956	NM_013391.3(DMGDH):c.835T>C (p.Ser279Pro)	DMGDH (S279P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1221556	NM_013391.3(DMGDH):c.746-142T>A	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179625	NM_013391.3(DMGDH):c.375+50_375+51del	DMGDH	Deletion (intron variant)	not provided	GBenign
Select item 814696	GRCh37/hg19 5q14.1(chr5:78094810-78936391)x3	DMGDH, HOMER1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 781998	NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter)	DMGDH (W324*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 765378	NM_013391.3(DMGDH):c.45G>A (p.Arg15=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752176	NM_013391.3(DMGDH):c.1684-7T>C	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746214	NM_013391.3(DMGDH):c.234G>C (p.Leu78=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726130	NM_013391.3(DMGDH):c.2464C>T (p.Leu822=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688924	GRCh37/hg19 5q14.1(chr5:78318239-78791047)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686675	GRCh37/hg19 5q14.1(chr5:78229182-78844914)x3	ARSB, BHMT +4 more	Copy number gain	not provided	GUncertain significance
Select item 686449	GRCh37/hg19 5q14.1(chr5:78324437-78693659)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686371	GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686174	GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 682526	NM_013391.3(DMGDH):c.1815-13G>T	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681469	NM_013391.3(DMGDH):c.183T>C (p.Gly61=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 668664	NM_013391.3(DMGDH):c.1815-4G>A	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 593199	NM_013391.3(DMGDH):c.2155C>T (p.Arg719Cys)	DMGDH (R719C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 548521	NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn)	DMGDH (D708N)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	GUncertain significance

<< First< Prev

Page of 2