25135[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 922

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 1326228	NC_000009.12:g.127451435A>C	LOC130002648, LRSAM1	Single nucleotide variant	not provided	GLikely benign
Select item 365002	NM_001005373.4(LRSAM1):c.-316C>T	LOC130002648, LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GBenign/Likely benign
Select item 913228	NM_001005373.4(LRSAM1):c.-308G>A	LOC130002648, LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 913229	NM_001005373.4(LRSAM1):c.-302C>T	LOC130002648, LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 365003	NM_001005373.4(LRSAM1):c.-199A>G	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GConflicting classifications of pathogenicity
Select item 365004	NM_001005373.4(LRSAM1):c.-189+47C>T	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 365005	NM_001005373.4(LRSAM1):c.-189+110G>A	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 365006	NM_001005373.4(LRSAM1):c.-189+120_-189+122del	LRSAM1	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 913230	NM_001005373.4(LRSAM1):c.-189+127A>G	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 365007	NM_001005373.4(LRSAM1):c.-188-121A>G	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 914348	NM_001005373.4(LRSAM1):c.-127C>A	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 365008	NM_001005373.4(LRSAM1):c.-78C>T	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 914349	NM_001005373.4(LRSAM1):c.-35C>T	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 674025	NM_001005373.4(LRSAM1):c.-33+51C>T	LRSAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198896	NM_001005373.4(LRSAM1):c.-33+445G>T	LRSAM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3236581	NM_001005373.4(LRSAM1):c.-32-3dup	LRSAM1	Duplication (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 380991	NM_001005373.4(LRSAM1):c.-19G>A	LRSAM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1404383	NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu)	LRSAM1 (M1L)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 961286	NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu)	LRSAM1 (P2L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 698612	NM_001005373.4(LRSAM1):c.6G>A (p.Pro2=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 1101361	NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 653950	NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu)	LRSAM1 (F5L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 953173	NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp)	LRSAM1 (R6W)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GUncertain significance
Select item 642619	NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln)	LRSAM1 (R6Q)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 961151	NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)	LRSAM1	Duplication (inframe_insertion +2 more)	Charcot-Marie-Tooth disease axonal type 2P +2 more	GUncertain significance
Select item 2921155	NM_001005373.4(LRSAM1):c.22C>G (p.Arg8Gly)	LRSAM1 (R8G)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 1022093	NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp)	LRSAM1 (R8W)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GUncertain significance
Select item 1436756	NM_001005373.4(LRSAM1):c.23G>A (p.Arg8Gln)	LRSAM1 (R8Q)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 755951	NM_001005373.4(LRSAM1):c.30C>T (p.Pro10=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2714981	NM_001005373.4(LRSAM1):c.39G>A (p.Glu13=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 1740309	NM_001005373.4(LRSAM1):c.43C>T (p.Arg15Trp)	LRSAM1 (R15W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2704989	NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)	LRSAM1 (R15L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 653481	NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln)	LRSAM1 (R15Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1055518	NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys)	LRSAM1 (R17C)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1439753	NM_001005373.4(LRSAM1):c.50G>A (p.Arg17His)	LRSAM1 (R17H)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 916773	NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 1449877	NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg)	LRSAM1 (Q21R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 382392	NM_001005373.4(LRSAM1):c.63G>A (p.Gln21=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 567610	NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu)	LRSAM1 (M22L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 1370513	NM_001005373.4(LRSAM1):c.72+10del	LRSAM1	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GConflicting classifications of pathogenicity
Select item 1203295	NM_001005373.4(LRSAM1):c.72+45C>T	LRSAM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670536	NM_001005373.4(LRSAM1):c.72+73G>T	LRSAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683120	NM_001005373.4(LRSAM1):c.72+172C>G	LRSAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258952	NM_001005373.4(LRSAM1):c.73-30A>C	LRSAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959599	NM_001005373.4(LRSAM1):c.73-14C>A	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2716709	NM_001005373.4(LRSAM1):c.73-14C>G	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2892251	NM_001005373.4(LRSAM1):c.73-8A>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2751985	NM_001005373.4(LRSAM1):c.73-2A>T	LRSAM1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely pathogenic
Select item 704481	NM_001005373.4(LRSAM1):c.75A>C (p.Ala25=)	LRSAM1	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 572610	NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser)	LRSAM1 (A28S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 695010	NM_001005373.4(LRSAM1):c.86G>C (p.Gly29Ala)	LRSAM1 (G29A)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 539999	NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu)	LRSAM1 (A30E)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GUncertain significance
Select item 573340	NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn)	LRSAM1 (D31N)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 408269	NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)	LRSAM1 (D32N)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 862139	NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser)	LRSAM1 (I33S)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 701063	NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 408264	NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn)	LRSAM1 (D35N)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2056787	NM_001005373.4(LRSAM1):c.106A>G (p.Ile36Val)	LRSAM1 (I36V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 969216	NM_001005373.4(LRSAM1):c.109del (p.Ser37fs)	LRSAM1 (S37fs)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GPathogenic
Select item 2118274	NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)	LRSAM1 (S37C)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 695011	NM_001005373.4(LRSAM1):c.119del (p.Glu40fs)	LRSAM1 (E40fs)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 392212	NM_001005373.4(LRSAM1):c.120G>A (p.Glu40=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GLikely benign
Select item 1316502	NM_001005373.4(LRSAM1):c.121C>G (p.Leu41Val)	LRSAM1 (L41V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 571162	NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro)	LRSAM1 (L41P)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 1155341	NM_001005373.4(LRSAM1):c.126A>G (p.Ser42=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2031881	NM_001005373.4(LRSAM1):c.129+16T>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 1673294	NM_001005373.4(LRSAM1):c.129+20G>C	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 1223397	NM_001005373.4(LRSAM1):c.129+128C>T	LRSAM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707256	NM_001005373.4(LRSAM1):c.129+195dup	LRSAM1	Duplication (intron variant)	not provided	GLikely benign
Select item 2707542	NM_001005373.4(LRSAM1):c.130-19C>T	LRSAM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 2772586	NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)	LRSAM1 (I44M)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2195992	NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)	LRSAM1 (P45L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 234859	NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu)	LRSAM1 (F46L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GUncertain significance
Select item 547049	NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser)	LRSAM1 (F49S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2191635	NM_001005373.4(LRSAM1):c.147T>G (p.Phe49Leu)	LRSAM1 (F49L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2766681	NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)	LRSAM1 (A50P)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2659502	NM_001005373.4(LRSAM1):c.153A>G (p.Thr51=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P +1 more	GLikely benign
Select item 1634050	NM_001005373.4(LRSAM1):c.153A>C (p.Thr51=)	LRSAM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 1418946	NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg)	LRSAM1 (K53R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 2145028	NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)	LRSAM1 (V54I)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 3009237	NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)	LRSAM1 (Q56K)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 949107	NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg)	LRSAM1 (K58R)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease axonal type 2P	GUncertain significance
Select item 1510347	NM_001005373.4(LRSAM1):c.174+33_174+34insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACTCCGCCCGGCTAATTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTCAGAGACTTTCTT	LRSAM1	Insertion (intron variant)	Charcot-Marie-Tooth disease axonal type 2P	GLikely benign
Select item 683121	NM_001005373.4(LRSAM1):c.175-186G>T	LRSAM1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 10