SLC39A12[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 2410857	NM_001145195.2(SLC39A12):c.10C>T (p.Arg4Trp)	SLC39A12 (R4W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164657	NM_001145195.2(SLC39A12):c.46C>G (p.Leu16Val)	SLC39A12 (L16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269383	NM_001145195.2(SLC39A12):c.128C>T (p.Pro43Leu)	SLC39A12 (P43L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164651	NM_001145195.2(SLC39A12):c.139C>A (p.Leu47Ile)	SLC39A12 (L47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370915	NM_001145195.2(SLC39A12):c.166C>T (p.Pro56Ser)	SLC39A12 (P56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265040	NM_001145195.2(SLC39A12):c.195C>G (p.Ile65Met)	SLC39A12 (I65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346671	NM_001145195.2(SLC39A12):c.257A>G (p.Asn86Ser)	SLC39A12 (N86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770588	NM_001145195.2(SLC39A12):c.262-7del	SLC39A12	Deletion (intron variant)	not provided	GBenign
Select item 2484694	NM_001145195.2(SLC39A12):c.364A>G (p.Ile122Val)	SLC39A12 (I122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472653	NM_001145195.2(SLC39A12):c.373C>G (p.Gln125Glu)	SLC39A12 (Q125E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164656	NM_001145195.2(SLC39A12):c.379G>C (p.Glu127Gln)	SLC39A12 (E127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601945	NM_001145195.2(SLC39A12):c.394A>G (p.Lys132Glu)	SLC39A12 (K132E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473527	NM_001145195.2(SLC39A12):c.569A>G (p.Lys190Arg)	SLC39A12 (K190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164658	NM_001145195.2(SLC39A12):c.609T>A (p.Ser203Arg)	SLC39A12 (S203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305370	NM_001145195.2(SLC39A12):c.671A>C (p.Gln224Pro)	SLC39A12 (Q90P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367930	NM_001145195.2(SLC39A12):c.697T>C (p.Phe233Leu)	SLC39A12 (F99L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164659	NM_001145195.2(SLC39A12):c.719C>T (p.Ser240Phe)	SLC39A12 (S106F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508294	NM_001145195.2(SLC39A12):c.763C>G (p.Leu255Val)	SLC39A12 (L255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164660	NM_001145195.2(SLC39A12):c.881C>T (p.Ser294Phe)	SLC39A12 (S294F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781194	NM_001145195.2(SLC39A12):c.994G>A (p.Asp332Asn)	LOC126860872, SLC39A12 (D198N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164649	NM_001145195.2(SLC39A12):c.1018A>G (p.Ile340Val)	LOC126860872, SLC39A12 (I340V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612198	NM_001145195.2(SLC39A12):c.1097A>C (p.Lys366Thr)	SLC39A12 (K366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215126	NM_001145195.2(SLC39A12):c.1108A>G (p.Ser370Gly)	SLC39A12 (S236G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539839	NM_001145195.2(SLC39A12):c.1141T>C (p.Ser381Pro)	SLC39A12 (S381P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513178	NM_001145195.2(SLC39A12):c.1225G>A (p.Val409Ile)	SLC39A12 (V275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640338	NM_001145195.2(SLC39A12):c.1245C>T (p.Asp415=)	SLC39A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769769	NM_001145195.2(SLC39A12):c.1270-6dup	SLC39A12	Duplication (intron variant)	not provided	GBenign
Select item 2301200	NM_001145195.2(SLC39A12):c.1319A>G (p.Glu440Gly)	SLC39A12 (E440G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278432	NM_001145195.2(SLC39A12):c.1327G>C (p.Gly443Arg)	SLC39A12 (G443R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510381	NM_001145195.2(SLC39A12):c.1364T>A (p.Ile455Asn)	SLC39A12 (I321N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341308	NM_001145195.2(SLC39A12):c.1380G>C (p.Leu460Phe)	SLC39A12 (L326F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365937	NM_001145195.2(SLC39A12):c.1417G>C (p.Asp473His)	SLC39A12 (D339H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164652	NM_001145195.2(SLC39A12):c.1570A>G (p.Ile524Val)	SLC39A12 (I390V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324234	NM_001145195.2(SLC39A12):c.1613G>T (p.Ser538Ile)	SLC39A12 (S537I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164653	NM_001145195.2(SLC39A12):c.1727C>A (p.Ala576Asp)	SLC39A12 (A576D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684598	GRCh37/hg19 10p12.33(chr10:18227444-18596572)x3	CACNB2, SLC39A12	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808778	GRCh37/hg19 10p12.33(chr10:17376968-18486923)x3	CACNB2, HACD1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1410118	NC_000010.10:g.(?_16866974)_(18828653_?)dup	CACNB2, CUBN +6 more	Duplication	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980367	GRCh37/hg19 10p12.33(chr10:18313841-18388434)x1	SLC39A12	Copy number loss	not provided	GUncertain significance
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563764	GRCh37/hg19 10p12.33-12.31(chr10:17766249-18867108)x3	SLC39A12, NSUN6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442109	GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	ARL5B, C1QL3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441870	GRCh37/hg19 10p13-12.31(chr10:16624071-19846248)x3	ARL5B, CACNB2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 145798	GRCh37/hg19 10p12.33(chr10:17809523-18273895)x3	SLC39A12	Copy number gain	See cases	GBenign

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Items: 57