29958[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 149681	GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3	ARSB, BHMT +21 more	Copy number gain	See cases	GUncertain significance
Select item 374514	NM_013391.3(DMGDH):c.*8C>T	DMGDH, LOC126807431	Single nucleotide variant (3 prime UTR variant)	not provided	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 2655554	NM_013391.3(DMGDH):c.2545T>C (p.Leu849=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 384203	NM_013391.3(DMGDH):c.2535A>G (p.Glu845=)	DMGDH, LOC126807431	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 3083086	NM_013391.3(DMGDH):c.2450A>T (p.Tyr817Phe)	DMGDH, LOC126807431 (Y817F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285801	NM_013391.3(DMGDH):c.2385+46dup	DMGDH	Duplication (intron variant)	not provided	GBenign
Select item 388411	NM_013391.3(DMGDH):c.2385+12G>C	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 391375	NM_013391.3(DMGDH):c.2385+11A>C	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 506364	NM_013391.3(DMGDH):c.2309G>A (p.Arg770Gln)	DMGDH (R770Q)	Single nucleotide variant (missense variant)	not provided	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 1241076	NM_013391.3(DMGDH):c.2251-24C>T	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 1276841	NM_013391.3(DMGDH):c.2251-133A>T	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318070	NM_013391.3(DMGDH):c.2250+135T>C	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380020	NM_013391.3(DMGDH):c.2250+9A>G	DMGDH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 510489	NM_013391.3(DMGDH):c.2196C>T (p.Asn732=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 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 548521	NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn)	DMGDH (D708N)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	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 515989	NM_013391.3(DMGDH):c.2033-17C>T	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1316286	NM_013391.3(DMGDH):c.2032+95TG[2]	DMGDH	Microsatellite (intron variant)	not provided	GLikely benign
Select item 152418	GRCh38/hg38 5q14.1(chr5:79028408-79195058)x3	BHMT, BHMT2 +1 more	Copy number gain	See cases	GLikely benign
Select item 380066	NM_013391.3(DMGDH):c.1936T>C (p.Ser646Pro)	DMGDH (S646P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 425346	NM_013391.3(DMGDH):c.1927A>G (p.Lys643Glu)	DMGDH (K643E)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 668664	NM_013391.3(DMGDH):c.1815-4G>A	DMGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387454	NM_013391.3(DMGDH):c.1815-5C>T	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380065	NM_013391.3(DMGDH):c.1815-9A>G	DMGDH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 682526	NM_013391.3(DMGDH):c.1815-13G>T	DMGDH	Single nucleotide variant (intron variant)	not provided	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 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 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 513282	NM_013391.3(DMGDH):c.1779A>G (p.Leu593=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 507800	NM_013391.3(DMGDH):c.1777T>C (p.Leu593=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 752176	NM_013391.3(DMGDH):c.1684-7T>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 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 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 380064	NM_013391.3(DMGDH):c.1589C>G (p.Ala530Gly)	DMGDH (A530G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 510284	NM_013391.3(DMGDH):c.1533C>T (p.Arg511=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 380061	NM_013391.3(DMGDH):c.1518-4T>A	DMGDH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 382072	NM_013391.3(DMGDH):c.1518-16A>C	DMGDH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1292171	NM_013391.3(DMGDH):c.1518-116_1518-102del	DMGDH	Deletion (intron variant)	not provided	GBenign
Select item 384238	NM_013391.3(DMGDH):c.1479G>A (p.Pro493=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380063	NM_013391.3(DMGDH):c.1467C>T (p.Gly489=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 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 507998	NM_013391.3(DMGDH):c.1401G>A (p.Pro467=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 383485	NM_013391.3(DMGDH):c.1364-19A>G	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509478	NM_013391.3(DMGDH):c.1363+8A>G	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 513162	NM_013391.3(DMGDH):c.1363+6G>A	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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 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 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 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 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 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 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 380102	NM_013391.3(DMGDH):c.1097A>G (p.Asn366Ser)	DMGDH (N366S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 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 1292111	NM_013391.3(DMGDH):c.994+65A>G	DMGDH	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 377777	NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe)	DMGDH (L300F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
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 1270173	NM_013391.3(DMGDH):c.864G>C (p.Leu288=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 225340	NM_013391.3(DMGDH):c.856C>T (p.Arg286Ter)	DMGDH (R286*)	Single nucleotide variant (nonsense +1 more)	Dimethylglycine dehydrogenase deficiency	GUncertain significance
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 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 382993	NM_013391.3(DMGDH):c.746-11T>C	DMGDH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1258618	NM_013391.3(DMGDH):c.746-36A>G	DMGDH	Single nucleotide variant (intron variant)	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 3272392	NM_013391.3(DMGDH):c.710G>C (p.Gly237Ala)	DMGDH (G237A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301702	NM_013391.3(DMGDH):c.696del (p.Glu233fs)	DMGDH (E233fs)	Deletion (frameshift variant)	not provided	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 382987	NM_013391.3(DMGDH):c.678A>G (p.Ser226=)	DMGDH	Single nucleotide variant (synonymous variant)	not specified	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 3083088	NM_013391.3(DMGDH):c.536A>G (p.Asn179Ser)	DMGDH (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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