ClinVar for Gene (Select 91252) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 336

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367526	NM_001128225.3(SLC39A13):c.896G>A (p.Cys299Tyr)	SLC39A13 (C299Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366631	NM_001128225.3(SLC39A13):c.556A>G (p.Thr186Ala)	SLC39A13 (T186A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3342340	NM_001128225.3(SLC39A13):c.1081G>A (p.Val361Met)	SLC39A13 (V354M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3319751	NM_001128225.3(SLC39A13):c.22G>A (p.Gly8Ser)	SLC39A13 (G8S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319749	NM_001128225.3(SLC39A13):c.475A>T (p.Ile159Phe)	SLC39A13 (I159F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3255065	NM_001128225.3(SLC39A13):c.517_534del (p.Lys173_Ser178del)	SLC39A13	Deletion (inframe_deletion +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 3244527	NC_000011.9:g.(?_47362534)_(47433610_?)dup	MYBPC3, SLC39A13 +1 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3244520	NC_000011.9:g.(?_47353422)_(47436914_?)del	MYBPC3, SLC39A13 +1 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 3164662	NM_001128225.3(SLC39A13):c.805C>A (p.Leu269Met)	SLC39A13 (L269M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3164661	NM_001128225.3(SLC39A13):c.1073C>T (p.Ala358Val)	SLC39A13 (A351V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3024996	NM_001128225.3(SLC39A13):c.735+362G>A	SLC39A13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997270	NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2983180	NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2977296	NM_001128225.3(SLC39A13):c.415+23_415+39del	SLC39A13	Deletion (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2955553	NM_001128225.3(SLC39A13):c.302-6T>C	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2910500	NM_001128225.3(SLC39A13):c.919+13C>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2895096	NM_001128225.3(SLC39A13):c.302-4G>C	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2890795	NM_001128225.3(SLC39A13):c.420T>C (p.Gly140=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2884818	NM_001128225.3(SLC39A13):c.402C>T (p.Cys134=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2882062	NM_001128225.3(SLC39A13):c.538-13C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2880827	NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2878307	NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2867300	NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2859110	NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2852440	NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2847855	NM_001128225.3(SLC39A13):c.588C>T (p.His196=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2835577	NM_001128225.3(SLC39A13):c.538-12_538-11del	SLC39A13	Microsatellite (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2808026	NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)	SLC39A13 (P339R +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2798393	NM_001128225.3(SLC39A13):c.415+11C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2796087	NM_001128225.3(SLC39A13):c.1107C>T (p.Phe369=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2791671	NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2785077	NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2781756	NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2762439	NM_001128225.3(SLC39A13):c.736-10C>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2761398	NM_001128225.3(SLC39A13):c.736-16G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2759262	NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2740549	NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=)	SLC39A13	Single nucleotide variant (3 prime UTR variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2724074	NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2722342	NM_001128225.3(SLC39A13):c.735+8G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2721901	NM_001128225.3(SLC39A13):c.645+8G>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2715101	NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2713436	NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2712864	NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2712078	NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2703485	NM_001128225.3(SLC39A13):c.301+14C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2702259	NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)	SLC39A13 (P316H)	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2695375	NM_001128225.3(SLC39A13):c.786+12T>C	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2683148	NM_001128225.3(SLC39A13):c.139C>G (p.Arg47Gly)	SLC39A13 (R47G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504788	NM_001128225.3(SLC39A13):c.347G>C (p.Gly116Ala)	SLC39A13 (G116A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498171	NM_001128225.3(SLC39A13):c.682G>C (p.Asp228His)	SLC39A13 (D228H)	Single nucleotide variant (missense variant +1 more)	Fine-Lubinsky syndrome	GUncertain significance
Select item 2481815	NM_001128225.3(SLC39A13):c.32T>C (p.Met11Thr)	SLC39A13 (M11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2436026	NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)	SLC39A13 (E308K +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2436025	NM_001128225.3(SLC39A13):c.-9+256T>C	SLC39A13, SLC39A13-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2421138	NM_001128225.3(SLC39A13):c.538-20C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2413498	NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)	SLC39A13 (K167del)	Microsatellite (inframe_deletion +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2400490	NM_001128225.3(SLC39A13):c.947C>T (p.Thr316Met)	SLC39A13 (T316M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254291	NM_001128225.3(SLC39A13):c.602C>T (p.Pro201Leu)	SLC39A13 (P201L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216572	NM_001128225.3(SLC39A13):c.437A>C (p.Gln146Pro)	SLC39A13 (Q146P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203510	NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2194299	NM_001128225.3(SLC39A13):c.537+8C>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2184024	NM_001128225.3(SLC39A13):c.919+5G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2184002	NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2182142	NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)	SLC39A13 (T20A)	Inversion (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2181284	NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)	SLC39A13 (L288R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2163626	NM_001128225.3(SLC39A13):c.415+16C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2154461	NM_001128225.3(SLC39A13):c.537+18G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2151458	NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)	SLC39A13 (G218S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2146137	NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)	SLC39A13 (H232Y)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2144346	NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2142094	NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)	SLC39A13 (A294T)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more	GUncertain significance
Select item 2139528	NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2139192	NM_001128225.3(SLC39A13):c.736-13C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2131887	NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2114141	NM_001128225.3(SLC39A13):c.648C>A (p.Val216=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2111219	NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)	SLC39A13 (P127fs)	Duplication (frameshift variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2107878	NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2104369	NM_001128225.3(SLC39A13):c.1040+15G>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2095202	NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2091107	NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2091106	NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)	SLC39A13	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2091105	NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)	SLC39A13 (Q344* +1 more)	Single nucleotide variant (nonsense +2 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2085049	NM_001128225.3(SLC39A13):c.787-16C>G	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2081789	NM_001128225.3(SLC39A13):c.786+7G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2063447	NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2058796	NM_001128225.3(SLC39A13):c.919+13C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2052319	NM_001128225.3(SLC39A13):c.582A>T (p.Gly194=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2050372	NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)	SLC39A13 (W56fs)	Duplication (frameshift variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2046035	NM_001128225.3(SLC39A13):c.648C>G (p.Val216=)	SLC39A13	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2045371	NM_001128225.3(SLC39A13):c.537+19G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2045129	NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)	SLC39A13 (S55P)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2043006	NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)	SLC39A13 (T44M)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2039737	NM_001128225.3(SLC39A13):c.1040+18G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2038126	NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)	SLC39A13 (R212W)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2032153	NM_001128225.3(SLC39A13):c.416-11G>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 2026082	NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)	SLC39A13 (L37F)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2013637	NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)	SLC39A13 (L292R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GUncertain significance
Select item 2004309	NM_001128225.3(SLC39A13):c.537+8C>T	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1980350	NM_001128225.3(SLC39A13):c.1041-5C>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign
Select item 1977967	NM_001128225.3(SLC39A13):c.645+9C>A	SLC39A13	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylocheirodysplastic type	GLikely benign

<< First< Prev

Page of 4