2348[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1088371	NC_000011.10:g.72189540C>T	FOLR1	Single nucleotide variant	Cerebral folate transport deficiency	GLikely benign
Select item 306022	NM_016725.2(FOLR1):c.-122C>G	FOLR1	Single nucleotide variant	Cerebral folate transport deficiency	GUncertain significance
Select item 510642	NM_016725.3(FOLR1):c.-30G>A	FOLR1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 881436	NM_016725.3(FOLR1):c.-27G>A	FOLR1	Single nucleotide variant (5 prime UTR variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 387573	NM_016725.3(FOLR1):c.-9+9C>T	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 157589	NM_000802.3(FOLR1):c.-20G>A	FOLR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252638	NM_000802.3(FOLR1):c.-9+153G>A	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296043	NM_000802.3(FOLR1):c.-9+516G>A	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232499	NM_000802.3(FOLR1):c.-9+603C>T	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293890	NM_000802.3(FOLR1):c.-9+695C>T	FOLR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1236976	NM_000802.3(FOLR1):c.-9+870A>C	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306023	NM_016729.3(FOLR1):c.-14C>T	FOLR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 393190	NM_016729.3(FOLR1):c.1A>G (p.Met1Val)	FOLR1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1345150	NM_016729.3(FOLR1):c.8A>G (p.Gln3Arg)	FOLR1 (Q3R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 516078	NM_016729.3(FOLR1):c.9G>A (p.Gln3=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1448935	NM_016729.3(FOLR1):c.10C>T (p.Arg4Trp)	FOLR1 (R4W)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 424988	NM_016729.3(FOLR1):c.11G>A (p.Arg4Gln)	FOLR1 (R4Q)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 205452	NM_016729.3(FOLR1):c.13A>G (p.Met5Val)	FOLR1 (M5V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 942122	NM_016729.3(FOLR1):c.17C>T (p.Thr6Ile)	FOLR1 (T6I)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1543610	NM_016729.3(FOLR1):c.18A>G (p.Thr6=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1789252	NM_016729.3(FOLR1):c.22C>A (p.Gln8Lys)	FOLR1 (Q8K)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GUncertain significance
Select item 501379	NM_016729.3(FOLR1):c.34del (p.Leu12fs)	FOLR1 (L12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2040233	NM_016729.3(FOLR1):c.42G>A (p.Val14=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1037610	NM_016729.3(FOLR1):c.45G>T (p.Trp15Cys)	FOLR1 (W15C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2090222	NM_016729.3(FOLR1):c.53T>C (p.Val18Ala)	FOLR1 (V18A)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 766418	NM_016729.3(FOLR1):c.54A>T (p.Val18=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 377890	NM_016729.3(FOLR1):c.57A>G (p.Val19=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1396518	NM_016729.3(FOLR1):c.59G>A (p.Gly20Glu)	FOLR1 (G20E)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 452139	NM_016729.3(FOLR1):c.59G>C (p.Gly20Ala)	FOLR1 (G20A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 587946	NM_016729.3(FOLR1):c.65C>T (p.Ala22Val)	FOLR1 (A22V)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +1 more	GUncertain significance
Select item 1064100	NM_016729.3(FOLR1):c.68A>G (p.Gln23Arg)	FOLR1 (Q23R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 660479	NM_016729.3(FOLR1):c.71C>T (p.Thr24Ile)	FOLR1 (T24I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1961802	NM_016729.3(FOLR1):c.79G>T (p.Ala27Ser)	FOLR1 (A27S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 3096208	NM_016729.3(FOLR1):c.80C>G (p.Ala27Gly)	FOLR1 (A27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377891	NM_016729.3(FOLR1):c.81A>C (p.Ala27=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +1 more	GLikely benign
Select item 1464643	NM_016729.3(FOLR1):c.92C>G (p.Thr31Ser)	FOLR1 (T31S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1046313	NM_016729.3(FOLR1):c.92C>T (p.Thr31Ile)	FOLR1 (T31I)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 418217	NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp)	FOLR1 (N35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1117436	NM_016729.3(FOLR1):c.111C>T (p.Cys37=)	FOLR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2175762	NM_016729.3(FOLR1):c.112A>G (p.Met38Val)	FOLR1 (M38V)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 380419	NM_016729.3(FOLR1):c.117C>T (p.Asn39=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +2 more	GLikely benign
Select item 589340	NM_016729.3(FOLR1):c.118G>A (p.Ala40Thr)	FOLR1 (A40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 852887	NM_016729.3(FOLR1):c.123G>C (p.Lys41Asn)	FOLR1 (K41N)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1208080	NM_016729.3(FOLR1):c.124C>A (p.His42Asn)	FOLR1 (H42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16257	NM_016729.3(FOLR1):c.130_147dup (p.Lys44_Pro49dup)	FOLR1	Duplication (inframe_insertion)	Cerebral folate transport deficiency	GPathogenic
Select item 1077274	NM_016729.3(FOLR1):c.138G>A (p.Lys46=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 538169	NM_016729.3(FOLR1):c.139C>G (p.Pro47Ala)	FOLR1 (P47A)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2117354	NM_016729.3(FOLR1):c.141A>G (p.Pro47=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2821188	NM_016729.3(FOLR1):c.144C>A (p.Gly48=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 761181	NM_016729.3(FOLR1):c.147C>T (p.Pro49=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2585157	NM_016729.3(FOLR1):c.148G>A (p.Glu50Lys)	FOLR1 (E50K)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1388118	NM_016729.3(FOLR1):c.156G>C (p.Lys52Asn)	FOLR1 (K52N)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 195316	NM_016729.3(FOLR1):c.157T>C (p.Leu53=)	FOLR1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1128558	NM_016729.3(FOLR1):c.162T>C (p.His54=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1506526	NM_016729.3(FOLR1):c.163G>A (p.Glu55Lys)	FOLR1 (E55K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1128802	NM_016729.3(FOLR1):c.165G>A (p.Glu55=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 306024	NM_016729.3(FOLR1):c.168+3G>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 470721	NM_016729.3(FOLR1):c.168+8del	FOLR1	Deletion (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 514627	NM_016729.3(FOLR1):c.168+9G>A	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1965092	NM_016729.3(FOLR1):c.168+10G>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1542487	NM_016729.3(FOLR1):c.168+11G>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 514217	NM_016729.3(FOLR1):c.168+13G>A	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 673508	NM_016729.3(FOLR1):c.168+37G>T	FOLR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673528	NM_016729.3(FOLR1):c.168+46G>C	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680243	NM_016729.3(FOLR1):c.169-186C>G	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670907	NM_016729.3(FOLR1):c.169-94T>G	FOLR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259098	NM_016729.3(FOLR1):c.169-71T>C	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2140700	NM_016729.3(FOLR1):c.169-19T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2101635	NM_016729.3(FOLR1):c.169-17T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1929916	NM_016729.3(FOLR1):c.169-14del	FOLR1	Deletion (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1929917	NM_016729.3(FOLR1):c.169-13T>G	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2121892	NM_016729.3(FOLR1):c.169-12T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 470722	NM_016729.3(FOLR1):c.169-8C>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1573610	NM_016729.3(FOLR1):c.169-7C>T	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1513624	NM_016729.3(FOLR1):c.169-7C>G	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2852125	NM_016729.3(FOLR1):c.169-5T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1133750	NM_016729.3(FOLR1):c.171T>C (p.Cys57=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 851223	NM_016729.3(FOLR1):c.173G>A (p.Arg58Gln)	FOLR1 (R58Q)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1465705	NM_016729.3(FOLR1):c.176C>A (p.Pro59His)	FOLR1 (P59H)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1352917	NM_016729.3(FOLR1):c.176C>G (p.Pro59Arg)	FOLR1 (P59R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2835572	NM_016729.3(FOLR1):c.181_182del (p.Arg61fs)	FOLR1 (R61fs)	Deletion (frameshift variant)	Cerebral folate transport deficiency	GPathogenic
Select item 429856	NM_016729.3(FOLR1):c.190G>T (p.Ala64Ser)	FOLR1 (A64S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 388110	NM_016729.3(FOLR1):c.192C>T (p.Ala64=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 929424	NM_016729.3(FOLR1):c.197G>A (p.Cys66Tyr)	FOLR1 (C66Y)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GPathogenic
Select item 2896304	NM_016729.3(FOLR1):c.198T>C (p.Cys66=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 196475	NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)	FOLR1 (Q72R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1957722	NM_016729.3(FOLR1):c.222C>A (p.Ala74=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 952373	NM_016729.3(FOLR1):c.223C>T (p.His75Tyr)	FOLR1 (H75Y)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 658632	NM_016729.3(FOLR1):c.224A>G (p.His75Arg)	FOLR1 (H75R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2501867	NM_016729.3(FOLR1):c.227del (p.Lys76fs)	FOLR1 (K76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 855735	NM_016729.3(FOLR1):c.232G>A (p.Val78Ile)	FOLR1 (V78I)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 388369	NM_016729.3(FOLR1):c.237C>T (p.Ser79=)	FOLR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3336670	NM_016729.3(FOLR1):c.242T>G (p.Leu81Arg)	FOLR1 (L81R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1445158	NM_016729.3(FOLR1):c.244T>C (p.Tyr82His)	FOLR1 (Y82H)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1111067	NM_016729.3(FOLR1):c.247A>C (p.Arg83=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2683159	NM_016729.3(FOLR1):c.256T>C (p.Trp86Arg)	FOLR1 (W86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004910	NM_016729.3(FOLR1):c.256T>G (p.Trp86Gly)	FOLR1 (W86G)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance

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