Related gene-specific medical variations for Gene (Select 64116) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164734	NM_001135146.2(SLC39A8):c.880G>A (p.Gly294Arg)	LOC126807125, SLC39A8 (G227R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164732	NM_001135146.2(SLC39A8):c.1007C>A (p.Thr336Asn)	LOC126807125, SLC39A8 (T269N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046833	NM_001135146.2(SLC39A8):c.951C>T (p.Ile317=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	SLC39A8-related disorder	GLikely benign
Select item 3032541	NM_001135146.2(SLC39A8):c.1049-17TCT[6]	LOC126807125, SLC39A8	Microsatellite (intron variant)	SLC39A8-related disorder	GLikely benign
Select item 3006579	NM_001135146.2(SLC39A8):c.1071T>C (p.Asn357=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980706	NM_001135146.2(SLC39A8):c.99G>A (p.Val33=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976596	NM_001135146.2(SLC39A8):c.54C>G (p.Leu18=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905401	NM_001135146.2(SLC39A8):c.963G>A (p.Ala321=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895428	NM_001135146.2(SLC39A8):c.88A>G (p.Ser30Gly)	LOC129992876, SLC39A8 (S30G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811718	NM_001135146.2(SLC39A8):c.841-13G>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722641	NM_001135146.2(SLC39A8):c.1093G>A (p.Ala365Thr)	LOC126807125, SLC39A8 (A298T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2516067	NM_001135146.2(SLC39A8):c.872G>C (p.Cys291Ser)	LOC126807125, SLC39A8 (C224S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436030	NM_001135146.2(SLC39A8):c.*1062C>T	SLC39A8	Single nucleotide variant (3 prime UTR variant +1 more)	SLC39A8-CDG	GUncertain significance
Select item 2436029	NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)	SLC39A8 (E391Q +1 more)	Single nucleotide variant (missense variant +1 more)	SLC39A8-CDG	GUncertain significance
Select item 2365416	NM_001135146.2(SLC39A8):c.842A>G (p.Asp281Gly)	LOC126807125, SLC39A8 (D214G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216931	NM_001135146.2(SLC39A8):c.7C>T (p.Pro3Ser)	LOC129992876, SLC39A8 (P3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211945	NM_001135146.2(SLC39A8):c.70G>T (p.Gly24Trp)	LOC129992876, SLC39A8 (G24W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167233	NM_001135146.2(SLC39A8):c.1049-10C>A	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110644	NM_001135146.2(SLC39A8):c.69G>C (p.Glu23Asp)	LOC129992876, SLC39A8 (E23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087000	NM_001135146.2(SLC39A8):c.1131T>C (p.Tyr377=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081711	NM_001135146.2(SLC39A8):c.78G>A (p.Gly26=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081666	NM_001135146.2(SLC39A8):c.59G>C (p.Gly20Ala)	LOC129992876, SLC39A8 (G20A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2070815	NM_001135146.2(SLC39A8):c.77G>A (p.Gly26Glu)	LOC129992876, SLC39A8 (G26E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055538	NM_001135146.2(SLC39A8):c.10G>C (p.Gly4Arg)	LOC129992876, SLC39A8 (G4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053189	NM_001135146.2(SLC39A8):c.8C>T (p.Pro3Leu)	SLC39A8, LOC129992876 (P3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015308	NM_001135146.2(SLC39A8):c.98_99del (p.Val33fs)	LOC129992876, SLC39A8 (V33fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2011270	NM_001135146.2(SLC39A8):c.82G>A (p.Ala28Thr)	LOC129992876, SLC39A8 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008015	NM_001135146.2(SLC39A8):c.69G>A (p.Glu23=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988210	NM_001135146.2(SLC39A8):c.930C>T (p.Cys310=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973687	NM_001135146.2(SLC39A8):c.1042G>A (p.Glu348Lys)	LOC126807125, SLC39A8 (E348K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967800	NM_001135146.2(SLC39A8):c.1048+3A>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1938909	NM_001135146.2(SLC39A8):c.87C>T (p.Phe29=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937945	NM_001135146.2(SLC39A8):c.1049-17TCT[7]	LOC126807125, SLC39A8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1928850	NM_001135146.2(SLC39A8):c.841-9T>G	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925794	NM_001135146.2(SLC39A8):c.1191A>G (p.Ala397=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919894	NM_001135146.2(SLC39A8):c.1233+15A>G	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911946	NM_001135146.2(SLC39A8):c.1049-12T>A	SLC39A8, LOC126807125	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903619	NM_001135146.2(SLC39A8):c.1049-13C>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902084	NM_001135146.2(SLC39A8):c.960G>C (p.Leu320=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896924	NM_001135146.2(SLC39A8):c.48C>T (p.Ala16=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810741	NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe)	LOC126807125, SLC39A8	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1810718	NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg)	LOC126807125, SLC39A8 (G359R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805152	NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)	LOC129992876, SLC39A8 (A6fs)	Deletion (frameshift variant)	SLC39A8-CDG	GUncertain significance
Select item 1678504	NM_001135146.2(SLC39A8):c.931G>A (p.Asp311Asn)	LOC126807125, SLC39A8 (D244N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486256	NM_001135146.2(SLC39A8):c.841G>A (p.Asp281Asn)	LOC126807125, SLC39A8 (D214N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278196	NM_001135146.2(SLC39A8):c.841-109T>C	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271175	NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr)	LOC126807125, SLC39A8 (A324T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1266911	NM_001135146.2(SLC39A8):c.841-186G>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265547	NM_001135146.2(SLC39A8):c.841-180C>T	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242477	NM_001135146.2(SLC39A8):c.1041C>T (p.His347=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1223513	NM_001135146.2(SLC39A8):c.-7G>A	LOC129992876, SLC39A8	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1218602	NM_001135146.2(SLC39A8):c.841-201G>A	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208698	NM_001135146.2(SLC39A8):c.19del (p.Val7fs)	LOC129992876, SLC39A8 (V7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1196818	NM_001135146.2(SLC39A8):c.1049-44dup	LOC126807125, SLC39A8	Duplication (intron variant)	not provided	GLikely benign
Select item 1181411	NM_001135146.2(SLC39A8):c.966del (p.Ile322fs)	LOC126807125, SLC39A8 (I255fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1175666	NM_001135146.2(SLC39A8):c.1049-44_1049-43dup	LOC126807125, SLC39A8	Duplication (intron variant)	not provided	GBenign
Select item 1030799	NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)	LOC126807125, SLC39A8 (T241M +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 1030797	NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)	LOC126807125, SLC39A8 (C342* +1 more)	Single nucleotide variant (nonsense)	SLC39A8-CDG	GLikely pathogenic
Select item 1030796	NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)	LOC126807125, SLC39A8 (I273M +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 1013495	NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	LOC126807125, SLC39A8 (I255T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 800792	NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)	LOC126807125, SLC39A8 (W238C +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GUncertain significance
Select item 742147	NM_001135146.2(SLC39A8):c.1049-6T>C	LOC126807125, SLC39A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725577	NM_001135146.2(SLC39A8):c.1170C>T (p.Phe390=)	LOC126807125, SLC39A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719671	NM_001135146.2(SLC39A8):c.81A>C (p.Leu27=)	LOC129992876, SLC39A8	Single nucleotide variant (synonymous variant)	SLC39A8-related disorder +1 more	GBenign/Likely benign
Select item 672166	NM_001135146.2(SLC39A8):c.1049-17TCT[4]	SLC39A8, LOC126807125	Microsatellite (intron variant)	not provided	GBenign
Select item 432927	NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)	LOC126807125, SLC39A8 (L366fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 429636	NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg)	SLC39A8, LOC126807125 (Q364R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424757	NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]	SLC39A8, LOC129992876 +1 more (V33M +2 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GPathogenic
Select item 424755	NM_022154.5(SLC39A8):c.[1019T>A];[112G>C]			SLC39A8-CDG	GPathogenic
Select item 424603	NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)	LOC126807125, SLC39A8 (N389S +1 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG +2 more	GUncertain significance
Select item 383789	NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter)	LOC126807125, SLC39A8 (C326* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 242447	NM_001135146.2(SLC39A8):c.1004G>C (p.Ser335Thr)	LOC126807125, SLC39A8 (S335T +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242446	NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met)	SLC39A8, LOC129992876 (V33M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 218898	NM_022154.5(SLC39A8):c.[97G>A;1004G>C]	SLC39A8, LOC129992876 +1 more (V33M +2 more)	Single nucleotide variant (missense variant)	SLC39A8-CDG	GPathogenic
Select item 218896	NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	LOC126807125, SLC39A8 (I340N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 218895	NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)	LOC129992876, SLC39A8 (G38R)	Single nucleotide variant (missense variant)	SLC39A8-CDG +1 more	GPathogenic/Likely pathogenic

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Items: 76