ClinVar for Gene (Select 29985) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3164678	NM_144564.5(SLC39A3):c.637G>A (p.Val213Met)	SLC39A3 (V213M)	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 3164676	NM_144564.5(SLC39A3):c.493G>A (p.Ala165Thr)	SLC39A3 (A165T)	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 3164673	NM_144564.5(SLC39A3):c.115C>T (p.Arg39Cys)	SLC39A3 (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
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 2609831	NM_144564.5(SLC39A3):c.116G>C (p.Arg39Pro)	SLC39A3 (R39P)	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 2536707	NM_144564.5(SLC39A3):c.914T>C (p.Val305Ala)	SLC39A3 (V305A)	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 2518249	NM_144564.5(SLC39A3):c.482G>A (p.Gly161Asp)	SLC39A3 (G161D)	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 2510332	NM_144564.5(SLC39A3):c.370G>A (p.Gly124Arg)	SLC39A3 (G124R)	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 2458495	NM_144564.5(SLC39A3):c.787G>A (p.Val263Met)	SLC39A3 (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +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 2410103	NM_144564.5(SLC39A3):c.706G>A (p.Val236Ile)	SLC39A3 (V236I)	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 2394274	NM_144564.5(SLC39A3):c.770C>T (p.Pro257Leu)	SLC39A3 (P257L)	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 2359725	NM_144564.5(SLC39A3):c.64G>A (p.Gly22Ser)	SLC39A3 (G22S)	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 2337354	NM_144564.5(SLC39A3):c.112C>T (p.His38Tyr)	SLC39A3 (H38Y)	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 2325812	NM_144564.5(SLC39A3):c.756C>G (p.Ser252Arg)	SLC39A3 (S252R)	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 2320182	NM_144564.5(SLC39A3):c.533C>T (p.Ser178Leu)	SLC39A3 (S178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2295749	NM_144564.5(SLC39A3):c.811G>A (p.Gly271Ser)	SLC39A3 (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2253390	NM_144564.5(SLC39A3):c.488C>T (p.Ser163Leu)	SLC39A3 (S163L)	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 2209256	NM_144564.5(SLC39A3):c.679C>T (p.Arg227Trp)	SLC39A3 (R227W)	Single nucleotide variant (missense variant)	not specified	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	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 770650	NM_144564.5(SLC39A3):c.506G>A (p.Arg169His)	SLC39A3 (R169H)	Single nucleotide variant (missense variant)	not provided	GBenign
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	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	SMIM24, SPPL2B +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)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +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 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	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 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55