ClinVar for Gene (Select 3954) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 398

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290490	NM_012318.3(LETM1):c.257C>A (p.Ala86Glu)	LETM1 (A86E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290489	NM_012318.3(LETM1):c.1529A>C (p.Glu510Ala)	LETM1 (E510A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290488	NM_012318.3(LETM1):c.565C>G (p.His189Asp)	LETM1 (H189D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246774	NC_000004.11:g.(?_1795662)_(1941525_?)dup	FGFR3, LETM1 +1 more	Duplication	not provided	GUncertain significance
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3118398	NM_012318.3(LETM1):c.335G>A (p.Arg112His)	LETM1 (R112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118397	NM_012318.3(LETM1):c.233A>G (p.Glu78Gly)	LETM1 (E78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118396	NM_012318.3(LETM1):c.1966G>A (p.Ala656Thr)	LETM1 (A656T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118395	NM_012318.3(LETM1):c.1951G>C (p.Ala651Pro)	LETM1 (A651P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118394	NM_012318.3(LETM1):c.1764G>C (p.Lys588Asn)	LETM1 (K588N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MAEA, MAN2B2 +117 more	Copy number loss	not provided	GPathogenic
Select item 3019964	NM_012318.3(LETM1):c.1931+19G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983200	NM_012318.3(LETM1):c.392A>G (p.Asn131Ser)	LETM1 (N131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976172	NM_012318.3(LETM1):c.1134G>A (p.Ala378=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969066	NM_012318.3(LETM1):c.1245C>T (p.Leu415=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961381	NM_012318.3(LETM1):c.143+18A>C	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955712	NM_012318.3(LETM1):c.876+11dup	LETM1	Duplication (intron variant)	not provided	GLikely benign
Select item 2902203	NM_012318.3(LETM1):c.417G>A (p.Pro139=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898845	NM_012318.3(LETM1):c.933A>G (p.Leu311=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898479	NM_012318.3(LETM1):c.1623G>A (p.Thr541=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882711	NM_012318.3(LETM1):c.1962C>A (p.Ile654=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877313	NM_012318.3(LETM1):c.414C>G (p.Gly138=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839465	NM_012318.3(LETM1):c.525C>G (p.Thr175=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816976	NM_012318.3(LETM1):c.1230C>A (p.Ile410=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697527	NM_012318.3(LETM1):c.118A>T (p.Ser40Cys)	LETM1 (S40C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691343	NM_012318.3(LETM1):c.920G>A (p.Arg307His)	LETM1 (R307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691342	NM_012318.3(LETM1):c.1743+4G>A	LETM1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2662487	NM_012318.3(LETM1):c.1605G>C (p.Leu535Phe)	LETM1 (L535F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654580	NM_012318.3(LETM1):c.466C>T (p.Arg156Trp)	LETM1 (R156W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654579	NM_012318.3(LETM1):c.1864T>C (p.Leu622=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ADRA2C, AFAP1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2556456	NM_012318.3(LETM1):c.334C>T (p.Arg112Cys)	LETM1 (R112C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554876	NM_012318.3(LETM1):c.1937A>C (p.Asn646Thr)	LETM1 (N646T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2551853	NM_012318.3(LETM1):c.65G>C (p.Arg22Pro)	LETM1 (R22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551745	NM_012318.3(LETM1):c.257C>G (p.Ala86Gly)	LETM1 (A86G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545135	NM_012318.3(LETM1):c.260C>G (p.Pro87Arg)	LETM1 (P87R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540917	NM_012318.3(LETM1):c.1401G>C (p.Glu467Asp)	LETM1 (E467D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538481	NM_012318.3(LETM1):c.1406C>T (p.Thr469Met)	LETM1 (T469M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455589	NM_012318.3(LETM1):c.2114G>A (p.Ser705Asn)	LETM1 (S705N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 2421570	NM_012318.3(LETM1):c.657G>A (p.Pro219=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417469	NM_012318.3(LETM1):c.1849G>A (p.Gly617Arg)	LETM1 (G617R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394466	NM_012318.3(LETM1):c.1795G>T (p.Val599Leu)	LETM1 (V599L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380864	NM_012318.3(LETM1):c.646G>A (p.Val216Met)	LETM1 (V216M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346695	NM_012318.3(LETM1):c.1495C>T (p.Arg499Cys)	LETM1 (R499C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329913	NM_012318.3(LETM1):c.1538C>A (p.Pro513Gln)	LETM1 (P513Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308694	NM_012318.3(LETM1):c.1551C>G (p.Asp517Glu)	LETM1 (D517E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292959	NM_012318.3(LETM1):c.478G>A (p.Glu160Lys)	LETM1 (E160K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286589	NM_012318.3(LETM1):c.484A>C (p.Lys162Gln)	LETM1 (K162Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256753	NM_012318.3(LETM1):c.644T>G (p.Phe215Cys)	LETM1 (F215C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247192	NM_012318.3(LETM1):c.343C>T (p.Arg115Cys)	LETM1 (R115C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239844	NM_012318.3(LETM1):c.455C>A (p.Ser152Tyr)	LETM1 (S152Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237543	NM_012318.3(LETM1):c.1759A>C (p.Lys587Gln)	LETM1 (K587Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220980	NM_012318.3(LETM1):c.430C>T (p.Pro144Ser)	LETM1 (P144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207071	NM_012318.3(LETM1):c.1442G>T (p.Arg481Leu)	LETM1 (R481L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198229	NM_012318.3(LETM1):c.2065G>A (p.Val689Ile)	LETM1 (V689I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186507	NM_012318.3(LETM1):c.1931+9G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186075	NM_012318.3(LETM1):c.1164C>T (p.Gly388=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185243	NM_012318.3(LETM1):c.1182G>A (p.Leu394=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183755	NM_012318.3(LETM1):c.1293C>T (p.Asp431=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182828	NM_012318.3(LETM1):c.968G>A (p.Arg323Gln)	LETM1 (R323Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2181710	NM_012318.3(LETM1):c.1165G>A (p.Val389Ile)	LETM1 (V389I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181590	NM_012318.3(LETM1):c.1173A>G (p.Glu391=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179486	NM_012318.3(LETM1):c.1110G>C (p.Leu370=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176321	NM_012318.3(LETM1):c.1950C>T (p.Val650=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176157	NM_012318.3(LETM1):c.506G>A (p.Arg169His)	LETM1 (R169H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173058	NM_012318.3(LETM1):c.972G>A (p.Pro324=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168856	NM_012318.3(LETM1):c.426C>T (p.Ser142=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167291	NM_012318.3(LETM1):c.1590G>A (p.Pro530=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166367	NM_012318.3(LETM1):c.1476G>A (p.Ala492=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2164158	NM_012318.3(LETM1):c.777G>A (p.Glu259=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163346	NM_012318.3(LETM1):c.1421C>T (p.Ala474Val)	LETM1 (A474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163185	NM_012318.3(LETM1):c.738+5G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2161783	NM_012318.3(LETM1):c.1528G>A (p.Glu510Lys)	LETM1 (E510K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2150679	NM_012318.3(LETM1):c.1332+5G>A	LETM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2144803	NM_012318.3(LETM1):c.467G>A (p.Arg156Gln)	LETM1 (R156Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142245	NM_012318.3(LETM1):c.1518G>T (p.Arg506Ser)	LETM1 (R506S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140172	NM_012318.3(LETM1):c.211G>A (p.Gly71Ser)	LETM1 (G71S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2132051	NM_012318.3(LETM1):c.1346A>G (p.Gln449Arg)	LETM1 (Q449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121924	NM_012318.3(LETM1):c.351C>T (p.Asp117=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096084	NM_012318.3(LETM1):c.588C>T (p.Arg196=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2091899	NM_012318.3(LETM1):c.1201-17C>T	LETM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085901	NM_012318.3(LETM1):c.1520C>T (p.Pro507Leu)	LETM1 (P507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 4