SLC30A2[gene] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	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 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 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 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 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 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 789148	NM_001004434.3(SLC30A2):c.921T>C (p.His307=)	SLC30A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 3056947	NM_001004434.3(SLC30A2):c.615C>T (p.His205=)	SLC30A2	Single nucleotide variant (synonymous variant)	SLC30A2-related disorder	GLikely benign
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 1806288	NM_001004434.3(SLC30A2):c.528del (p.Thr177fs)	SLC30A2 (T128fs +1 more)	Deletion (frameshift variant)	Zinc deficiency, transient neonatal	GLikely pathogenic
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 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 39552	NM_001004434.3(SLC30A2):c.161A>G (p.His54Arg)	SLC30A2 (H54R)	Single nucleotide variant (missense variant)	Zinc deficiency, transient neonatal	GPathogenic
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 2277328	NM_001004434.3(SLC30A2):c.76G>A (p.Glu26Lys)	SLC30A2 (E26K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2304879	NM_001004434.3(SLC30A2):c.11A>G (p.Lys4Arg)	SLC30A2 (K4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 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: 30