2861[HGNC] - 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 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 761261	NM_000791.4(DHFR):c.558T>C (p.Asn186=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2025038	NM_000791.4(DHFR):c.552G>A (p.Glu184=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1994564	NM_000791.4(DHFR):c.550G>A (p.Glu184Lys)	DHFR (E132K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2980516	NM_000791.4(DHFR):c.546A>G (p.Val182=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2825138	NM_000791.4(DHFR):c.513G>A (p.Gln171=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2077587	NM_000791.4(DHFR):c.512A>G (p.Gln171Arg)	DHFR (Q119R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2717847	NM_000791.4(DHFR):c.501C>G (p.Leu167=)	DHFR (L129V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1542144	NM_000791.4(DHFR):c.501C>T (p.Leu167=)	DHFR (L129F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1501340	NM_000791.4(DHFR):c.486-1G>T	DHFR	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2004850	NM_000791.4(DHFR):c.486-8T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968787	NM_000791.4(DHFR):c.486-8del	DHFR	Deletion (intron variant)	not provided	GBenign
Select item 1667952	NM_000791.4(DHFR):c.486-14A>T	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656037	NM_000791.4(DHFR):c.486-20_486-19dup	DHFR	Duplication (intron variant)	not provided	GLikely benign
Select item 1655321	NM_000791.4(DHFR):c.485+14T>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860523	NM_000791.4(DHFR):c.485+13T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557955	NM_000791.4(DHFR):c.485+12G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900518	NM_000791.4(DHFR):c.485+11G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658714	NM_000791.4(DHFR):c.485+10A>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991030	NM_000791.4(DHFR):c.485+9A>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014853	NM_000791.4(DHFR):c.485+8T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658200	NM_000791.4(DHFR):c.471T>C (p.Tyr157=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 29674	NM_000791.4(DHFR):c.458A>T (p.Asp153Val)	DHFR (D153V +1 more)	Single nucleotide variant (missense variant +2 more)	Constitutional megaloblastic anemia with severe neurologic disease	GPathogenic
Select item 2110211	NM_000791.4(DHFR):c.448C>G (p.Pro150Ala)	DHFR (P150A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 723950	NM_000791.4(DHFR):c.441G>A (p.Thr147=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1498012	NM_000791.4(DHFR):c.440C>T (p.Thr147Met)	DHFR (T147M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1975070	NM_000791.4(DHFR):c.426C>G (p.Asp142Glu)	DHFR (D90E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 725583	NM_000791.4(DHFR):c.418A>C (p.Met140Leu)	DHFR (M140L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1591113	NM_000791.4(DHFR):c.417C>T (p.Ile139=)	DHFR	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1955289	NM_000791.4(DHFR):c.392A>G (p.His131Arg)	DHFR (H79R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2094793	NM_000791.4(DHFR):c.382C>A (p.His128Asn)	DHFR (H128N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1354030	NM_000791.4(DHFR):c.373G>A (p.Ala125Thr)	DHFR (A125T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2032551	NM_000791.4(DHFR):c.370-6T>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795232	NM_000791.4(DHFR):c.370-14_370-12del	DHFR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2838018	NM_000791.4(DHFR):c.370-15T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802241	NM_000791.4(DHFR):c.370-18T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818339	NM_000791.4(DHFR):c.370-25_370-19del	DHFR	Deletion (intron variant)	not provided	GLikely benign
Select item 1647689	NM_000791.4(DHFR):c.369+19A>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655758	NM_000791.4(DHFR):c.369+7G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052219	NM_000791.4(DHFR):c.364T>C (p.Tyr122His)	DHFR (Y122H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128517	NM_000791.4(DHFR):c.353G>A (p.Gly118Asp)	DHFR (G118D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535863	NM_000791.4(DHFR):c.345A>T (p.Ile115=)	DHFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1934438	NM_000791.4(DHFR):c.343A>T (p.Ile115Leu)	DHFR (I115L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709841	NM_000791.4(DHFR):c.335T>G (p.Met112Arg)	DHFR (M112R +1 more)	Single nucleotide variant (missense variant)	Constitutional megaloblastic anemia with severe neurologic disease	GUncertain significance
Select item 1995199	NM_000791.4(DHFR):c.334A>C (p.Met112Leu)	DHFR (M112L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567987	NM_000791.4(DHFR):c.321A>C (p.Ala107=)	DHFR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1670882	NM_000791.4(DHFR):c.312A>G (p.Pro104=)	DHFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468640	NM_000791.4(DHFR):c.310C>G (p.Pro104Ala)	DHFR (P104A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461497	NM_000791.4(DHFR):c.303T>C (p.Thr101=)	DHFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467830	NM_000791.4(DHFR):c.302C>T (p.Thr101Ile)	DHFR (T49I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532385	NM_000791.4(DHFR):c.294A>G (p.Leu98=)	DHFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092268	NM_000791.4(DHFR):c.285T>G (p.Asp95Glu)	DHFR (D43E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557091	NM_000791.4(DHFR):c.282A>G (p.Leu94=)	DHFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071122	NM_000791.4(DHFR):c.274A>G (p.Arg92Gly)	DHFR (R40G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020414	NM_000791.4(DHFR):c.261T>C (p.Ala87=)	DHFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716706	NM_000791.4(DHFR):c.260C>G (p.Ala87Gly)	DHFR (A35G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897253	NM_000791.4(DHFR):c.259G>A (p.Ala87Thr)	DHFR (A87T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757246	NM_000791.4(DHFR):c.243-16C>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578548	NM_000791.4(DHFR):c.242+20T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806547	NM_000791.4(DHFR):c.242+15A>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995612	NM_000791.4(DHFR):c.242+15A>T	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130853	NM_000791.4(DHFR):c.242+9C>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417620	NM_000791.4(DHFR):c.242+8C>T	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1365120	NM_000791.4(DHFR):c.242+3A>G	DHFR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908763	NM_000791.4(DHFR):c.242A>G (p.Lys81Arg)	DHFR (K81R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 29673	NM_000791.4(DHFR):c.238C>T (p.Leu80Phe)	DHFR (L80F +1 more)	Single nucleotide variant (missense variant +1 more)	Constitutional megaloblastic anemia with severe neurologic disease	GPathogenic
Select item 2113386	NM_000791.4(DHFR):c.231C>T (p.Ser77=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1597282	NM_000791.4(DHFR):c.225T>C (p.Val75=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1425140	NM_000791.4(DHFR):c.209G>A (p.Gly70Asp)	DHFR (G18D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469613	NM_000791.4(DHFR):c.206A>T (p.Lys69Met)	DHFR (K17M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388448	NM_000791.4(DHFR):c.203del (p.Pro67_Leu68insTer)	DHFR	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 1965443	NM_000791.4(DHFR):c.201T>C (p.Pro67=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2044386	NM_000791.4(DHFR):c.196C>G (p.Arg66Gly)	DHFR (R14G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909510	NM_000791.4(DHFR):c.195T>C (p.Asn65=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1377706	NM_000791.4(DHFR):c.194A>G (p.Asn65Ser)	DHFR (N13S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1479720	NM_000791.4(DHFR):c.187G>A (p.Glu63Lys)	DHFR (E11K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367980	NM_000791.4(DHFR):c.187G>C (p.Glu63Gln)	DHFR (E11Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1546844	NM_000791.4(DHFR):c.177C>T (p.Phe59=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1528140	NM_000791.4(DHFR):c.137-16_137-13del	DHFR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1649918	NM_000791.4(DHFR):c.137-19T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809485	NM_000791.4(DHFR):c.137-20C>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2214090	NM_000791.4(DHFR):c.137-546T>C	DHFR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2245136	NM_000791.4(DHFR):c.137-583C>G	DHFR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2772176	NM_000791.4(DHFR):c.136+19G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880982	NM_000791.4(DHFR):c.136+14A>G	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948090	NM_000791.4(DHFR):c.136+10G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857009	NM_000791.4(DHFR):c.136+9G>T	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2070141	NM_000791.4(DHFR):c.136+9G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1475410	NM_000791.4(DHFR):c.136+1G>A	DHFR	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 418160	NM_000791.4(DHFR):c.133del (p.Glu45fs)	DHFR (E45fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1387238	NM_000791.4(DHFR):c.99A>G (p.Arg33=)	DHFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 288593	NM_000791.4(DHFR):c.90T>G (p.Asn30Lys)	DHFR (N30K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1441722	NM_000791.4(DHFR):c.87-3T>C	DHFR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1667663	NM_000791.4(DHFR):c.87-4G>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011932	NM_000791.4(DHFR):c.87-13C>T	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986300	NM_000791.4(DHFR):c.87-20G>C	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 157590	NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT	DHFR, MSH3	Insertion (intron variant)	not provided	GBenign
Select item 2172732	NM_000791.4(DHFR):c.86+14C>A	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139749	NM_000791.4(DHFR):c.86+14C>T	DHFR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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