ClinVar for Gene (Select 7780) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340912	NM_001004434.3(SLC30A2):c.652C>T (p.Arg218Ter)	SLC30A2 (R169* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3319503	NM_001004434.3(SLC30A2):c.917T>C (p.Leu306Pro)	SLC30A2 (L257P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319502	NM_001004434.3(SLC30A2):c.280C>G (p.Leu94Val)	SLC30A2 (L94V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319501	NM_001004434.3(SLC30A2):c.853G>A (p.Val285Ile)	SLC30A2 (V285I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319500	NM_001004434.3(SLC30A2):c.577G>C (p.Gly193Arg)	SLC30A2 (G144R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319499	NM_001004434.3(SLC30A2):c.80G>A (p.Gly27Glu)	SLC30A2 (G27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164227	NM_001004434.3(SLC30A2):c.616G>A (p.Gly206Ser)	SLC30A2 (G206S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164226	NM_001004434.3(SLC30A2):c.146G>A (p.Ser49Asn)	SLC30A2 (S49N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164225	NM_001004434.3(SLC30A2):c.127A>G (p.Ile43Val)	SLC30A2 (I43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056947	NM_001004434.3(SLC30A2):c.615C>T (p.His205=)	SLC30A2	Single nucleotide variant (synonymous variant)	SLC30A2-related disorder	GLikely benign
Select item 3045502	NM_001004434.3(SLC30A2):c.-2G>A	SLC30A2	Single nucleotide variant (5 prime UTR variant)	SLC30A2-related disorder	GLikely benign
Select item 3041987	NM_001004434.3(SLC30A2):c.68T>C (p.Leu23Pro)	SLC30A2 (L23P)	Single nucleotide variant (missense variant)	SLC30A2-related disorder	GBenign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2545494	NM_001004434.3(SLC30A2):c.1018C>G (p.Arg340Gly)	SLC30A2 (R340G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475698	NM_001004434.3(SLC30A2):c.945G>C (p.Gln315His)	SLC30A2 (Q315H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2378468	NM_001004434.3(SLC30A2):c.988G>A (p.Ala330Thr)	SLC30A2 (A281T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332831	NM_001004434.3(SLC30A2):c.573A>G (p.Ile191Met)	SLC30A2 (I142M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304879	NM_001004434.3(SLC30A2):c.11A>G (p.Lys4Arg)	SLC30A2 (K4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304608	NM_001004434.3(SLC30A2):c.1001T>C (p.Leu334Pro)	SLC30A2 (L285P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279279	NM_001004434.3(SLC30A2):c.927G>C (p.Trp309Cys)	SLC30A2 (W260C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277328	NM_001004434.3(SLC30A2):c.76G>A (p.Glu26Lys)	SLC30A2 (E26K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218723	NM_001004434.3(SLC30A2):c.649G>C (p.Val217Leu)	SLC30A2 (V217L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806288	NM_001004434.3(SLC30A2):c.528del (p.Thr177fs)	SLC30A2 (T128fs +1 more)	Deletion (frameshift variant)	Zinc deficiency, transient neonatal	GLikely pathogenic
Select item 1341062	GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3	ARID1A, CATSPER4 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 1050154	NM_001004434.3(SLC30A2):c.1106G>A (p.Gly369Asp)	SLC30A2 (G320D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032512	NM_001004434.3(SLC30A2):c.215G>A (p.Arg72His)	SLC30A2 (R72H)	Single nucleotide variant (missense variant)	Zinc deficiency, transient neonatal	GUncertain significance
Select item 789148	NM_001004434.3(SLC30A2):c.921T>C (p.His307=)	SLC30A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 219312	NM_001004434.3(SLC30A2):c.655G>A (p.Ala219Thr)	SLC30A2 (A219T +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 39553	NM_001004434.3(SLC30A2):c.259G>A (p.Gly87Arg)	SLC30A2 (G87R)	Single nucleotide variant (missense variant)	Zinc deficiency, transient neonatal	GPathogenic
Select item 39552	NM_001004434.3(SLC30A2):c.161A>G (p.His54Arg)	SLC30A2 (H54R)	Single nucleotide variant (missense variant)	Zinc deficiency, transient neonatal	GPathogenic

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Links from Gene

Items: 36