MFSD8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 60198	GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1	ABHD18, HSPA4L +15 more	Copy number loss	See cases	GUncertain significance
Select item 347517	NM_001371596.2(MFSD8):c.*2689T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 347518	NM_001371596.2(MFSD8):c.*2683C>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347519	NM_001371596.2(MFSD8):c.*2613T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901765	NM_001371596.2(MFSD8):c.*2592A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347520	NM_001371596.2(MFSD8):c.*2465A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 902668	NM_001371596.2(MFSD8):c.*2464C>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 347521	NM_001371596.2(MFSD8):c.*2405G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 347522	NM_001371596.2(MFSD8):c.*2386del	MFSD8	Deletion (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 902669	NM_001371596.2(MFSD8):c.*2369C>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 902670	NM_001371596.2(MFSD8):c.*2314G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 902671	NM_001371596.2(MFSD8):c.*2309G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 902672	NM_001371596.2(MFSD8):c.*2294G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347523	NM_001371596.2(MFSD8):c.*2270G>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347524	NM_001371596.2(MFSD8):c.*2214A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900120	NM_001371596.2(MFSD8):c.*2146A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900121	NM_001371596.2(MFSD8):c.*2104T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900122	NM_001371596.2(MFSD8):c.*2021C>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900123	NM_001371596.2(MFSD8):c.*2010T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900124	NM_001371596.2(MFSD8):c.*2006A>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900125	NM_001371596.2(MFSD8):c.*1969G>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 900126	NM_001371596.2(MFSD8):c.*1918T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347525	NM_001371596.2(MFSD8):c.*1794G>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 901226	NM_001371596.2(MFSD8):c.*1709G>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901227	NM_001371596.2(MFSD8):c.*1680A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347526	NM_001371596.2(MFSD8):c.*1603C>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347527	NM_001371596.2(MFSD8):c.*1515T>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 347528	NM_001371596.2(MFSD8):c.*1471T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901228	NM_001371596.2(MFSD8):c.*1455G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901229	NM_001371596.2(MFSD8):c.*1280T>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 347529	NM_001371596.2(MFSD8):c.*1161A>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901835	NM_001371596.2(MFSD8):c.*1147G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347530	NM_001371596.2(MFSD8):c.*1058A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901836	NM_001371596.2(MFSD8):c.*842T>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347531	NM_001371596.2(MFSD8):c.*839C>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901837	NM_001371596.2(MFSD8):c.*734A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347532	NM_001371596.2(MFSD8):c.*695A>G	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 901838	NM_001371596.2(MFSD8):c.*675T>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 347533	NM_001371596.2(MFSD8):c.*533G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 347534	NM_001371596.2(MFSD8):c.*492A>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 347535	NM_001371596.2(MFSD8):c.*469dup	MFSD8	Duplication (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 347536	NM_001371596.2(MFSD8):c.*463A>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 902742	NM_001371596.2(MFSD8):c.*427G>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GBenign
Select item 347537	NM_001371596.2(MFSD8):c.*414C>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 902743	NM_001371596.2(MFSD8):c.*369G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347538	NM_001371596.2(MFSD8):c.*258A>C	MFSD8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 902744	NM_001371596.2(MFSD8):c.*250G>A	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347539	NM_001371596.2(MFSD8):c.*208C>T	MFSD8	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1359386	NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr)	MFSD8	Single nucleotide variant (stop lost)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2864070	NM_001371596.2(MFSD8):c.1556A>G (p.Ter519=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2730114	NM_001371596.2(MFSD8):c.1554A>G (p.Glu518=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1010864	NM_001371596.2(MFSD8):c.1550A>G (p.Gln517Arg)	MFSD8 (Q412R +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2980698	NM_001371596.2(MFSD8):c.1539T>C (p.Tyr513=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1060737	NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys)	MFSD8 (Y408C +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 206166	NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys)	MFSD8 (R474K +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481600	NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly)	MFSD8 (R445G +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1215536	NM_001371596.2(MFSD8):c.1533A>G (p.Val511=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 665502	NM_001371596.2(MFSD8):c.1521T>G (p.Ile507Met)	MFSD8 (I507M +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1126216	NM_001371596.2(MFSD8):c.1518C>T (p.Leu506=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1041253	NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro)	MFSD8 (L412P +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 347540	NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val)	MFSD8 (L506V +9 more)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 517109	NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1446805	NM_001371596.2(MFSD8):c.1511A>G (p.Lys504Arg)	MFSD8 (K410R +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2020084	NM_001371596.2(MFSD8):c.1509C>A (p.Tyr503Ter)	MFSD8 (Y398* +9 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 515214	NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1582294	NM_001371596.2(MFSD8):c.1494C>T (p.Leu498=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 2148722	NM_001371596.2(MFSD8):c.1490C>T (p.Thr497Ile)	MFSD8 (T403I +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1084023	NM_001371596.2(MFSD8):c.1488C>A (p.Ile496=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1605323	NM_001371596.2(MFSD8):c.1485C>T (p.Thr495=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1384751	NM_001371596.2(MFSD8):c.1481T>C (p.Leu494Pro)	MFSD8 (L456P +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2145421	NM_001371596.2(MFSD8):c.1480C>T (p.Leu494Phe)	MFSD8 (L344F +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 570915	NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr)	MFSD8 (I492T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2090221	NM_001371596.2(MFSD8):c.1474A>G (p.Ile492Val)	MFSD8 (I425V +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 464777	NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GConflicting classifications of pathogenicity
Select item 1627035	NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1998728	NM_001371596.2(MFSD8):c.1458_1459delinsAA (p.Ser486_Leu487delinsArgMet)	MFSD8	Indel (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1136926	NM_001371596.2(MFSD8):c.1452A>G (p.Ala484=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 834700	NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)	MFSD8 (W378* +9 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2577520	NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)	MFSD8 (R332P +9 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy	GUncertain significance
Select item 569809	NM_001371596.2(MFSD8):c.1445G>A (p.Arg482Gln)	MFSD8 (R482Q +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 162382	NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)	MFSD8 (R482* +9 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7 +3 more	GPathogenic/Likely pathogenic
Select item 1984593	NM_001371596.2(MFSD8):c.1441C>G (p.Pro481Ala)	MFSD8 (P432A +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1675963	NM_001371596.2(MFSD8):c.1439G>T (p.Gly480Val)	MFSD8 (G375V +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1050805	NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter)	MFSD8 (W374* +9 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 1536583	NM_001371596.2(MFSD8):c.1434C>T (p.His478=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1349633	NM_001371596.2(MFSD8):c.1434C>A (p.His478Gln)	MFSD8 (H429Q +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1388358	NM_001371596.2(MFSD8):c.1433A>T (p.His478Leu)	MFSD8 (H411L +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 2036123	NM_001371596.2(MFSD8):c.1431T>G (p.Ala477=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 241995	NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr)	MFSD8 (A477T +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1119868	NM_001371596.2(MFSD8):c.1428T>C (p.Tyr476=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign
Select item 1024993	NM_001371596.2(MFSD8):c.1427A>G (p.Tyr476Cys)	MFSD8 (Y371C +9 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1645555	NM_001371596.2(MFSD8):c.1425G>A (p.Val475=)	MFSD8	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely benign

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