SLC39A3[gene] - ClinVar

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

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 2301515	NM_144564.5(SLC39A3):c.922G>A (p.Gly308Arg)	SLC39A3 (G308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536707	NM_144564.5(SLC39A3):c.914T>C (p.Val305Ala)	SLC39A3 (V305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295749	NM_144564.5(SLC39A3):c.811G>A (p.Gly271Ser)	SLC39A3 (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512934	NM_144564.5(SLC39A3):c.806C>T (p.Ala269Val)	SLC39A3 (A269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458495	NM_144564.5(SLC39A3):c.787G>A (p.Val263Met)	SLC39A3 (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394274	NM_144564.5(SLC39A3):c.770C>T (p.Pro257Leu)	SLC39A3 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319755	NM_144564.5(SLC39A3):c.757G>A (p.Ala253Thr)	SLC39A3 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325812	NM_144564.5(SLC39A3):c.756C>G (p.Ser252Arg)	SLC39A3 (S252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548288	NM_144564.5(SLC39A3):c.755G>A (p.Ser252Asn)	SLC39A3 (S252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410103	NM_144564.5(SLC39A3):c.706G>A (p.Val236Ile)	SLC39A3 (V236I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164679	NM_144564.5(SLC39A3):c.684C>G (p.Asp228Glu)	SLC39A3 (D228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209256	NM_144564.5(SLC39A3):c.679C>T (p.Arg227Trp)	SLC39A3 (R227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612821	NM_144564.5(SLC39A3):c.673C>A (p.Pro225Thr)	SLC39A3 (P225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527162	NM_144564.5(SLC39A3):c.673C>T (p.Pro225Ser)	SLC39A3 (P225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321706	NM_144564.5(SLC39A3):c.672G>A (p.Met224Ile)	SLC39A3 (M224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164678	NM_144564.5(SLC39A3):c.637G>A (p.Val213Met)	SLC39A3 (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320182	NM_144564.5(SLC39A3):c.533C>T (p.Ser178Leu)	SLC39A3 (S178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164677	NM_144564.5(SLC39A3):c.527C>T (p.Ala176Val)	SLC39A3 (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770650	NM_144564.5(SLC39A3):c.506G>A (p.Arg169His)	SLC39A3 (R169H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2283707	NM_144564.5(SLC39A3):c.505C>T (p.Arg169Cys)	SLC39A3 (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164676	NM_144564.5(SLC39A3):c.493G>A (p.Ala165Thr)	SLC39A3 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253390	NM_144564.5(SLC39A3):c.488C>T (p.Ser163Leu)	SLC39A3 (S163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518249	NM_144564.5(SLC39A3):c.482G>A (p.Gly161Asp)	SLC39A3 (G161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490505	NM_144564.5(SLC39A3):c.476T>C (p.Val159Ala)	SLC39A3 (V159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319757	NM_144564.5(SLC39A3):c.473G>A (p.Ser158Asn)	SLC39A3 (S158N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319762	NM_144564.5(SLC39A3):c.460G>T (p.Gly154Cys)	SLC39A3 (G154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408266	NM_144564.5(SLC39A3):c.433G>A (p.Ala145Thr)	SLC39A3 (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326755	NM_144564.5(SLC39A3):c.422C>T (p.Ala141Val)	SLC39A3 (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319758	NM_144564.5(SLC39A3):c.421G>A (p.Ala141Thr)	SLC39A3 (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319756	NM_144564.5(SLC39A3):c.379G>C (p.Val127Leu)	SLC39A3 (V127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363719	NM_144564.5(SLC39A3):c.374C>T (p.Ser125Leu)	SLC39A3 (S125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510332	NM_144564.5(SLC39A3):c.370G>A (p.Gly124Arg)	SLC39A3 (G124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232711	NM_144564.5(SLC39A3):c.367G>A (p.Ala123Thr)	SLC39A3 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348135	NM_144564.5(SLC39A3):c.325C>T (p.Arg109Cys)	SLC39A3 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319760	NM_144564.5(SLC39A3):c.164T>G (p.Phe55Cys)	SLC39A3 (F55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164674	NM_144564.5(SLC39A3):c.146C>T (p.Thr49Ile)	SLC39A3 (T49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609831	NM_144564.5(SLC39A3):c.116G>C (p.Arg39Pro)	SLC39A3 (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164673	NM_144564.5(SLC39A3):c.115C>T (p.Arg39Cys)	SLC39A3 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337354	NM_144564.5(SLC39A3):c.112C>T (p.His38Tyr)	SLC39A3 (H38Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359725	NM_144564.5(SLC39A3):c.64G>A (p.Gly22Ser)	SLC39A3 (G22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319761	NM_144564.5(SLC39A3):c.48C>G (p.Phe16Leu)	SLC39A3 (F16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 929386	GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3	DIRAS1, GADD45B +15 more	Copy number gain	See cases	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 688246	GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1	DIRAS1, GADD45B +10 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64