SLC39A6[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 more	Copy number gain	See cases	GPathogenic
Select item 154263	GRCh38/hg38 18q12.2(chr18:35990843-36963685)x1	COSMOC, ELP2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 2525110	NM_012319.4(SLC39A6):c.2248G>A (p.Val750Met)	SLC39A6 (V750M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164725	NM_012319.4(SLC39A6):c.2088A>T (p.Leu696Phe)	SLC39A6 (L696F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319771	NM_012319.4(SLC39A6):c.1996A>G (p.Met666Val)	SLC39A6 (M391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164724	NM_012319.4(SLC39A6):c.1982A>T (p.Asn661Ile)	SLC39A6 (N386I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164723	NM_012319.4(SLC39A6):c.1960G>T (p.Val654Phe)	SLC39A6 (V379F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465194	NM_012319.4(SLC39A6):c.1925G>T (p.Gly642Val)	SLC39A6 (G367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319774	NM_012319.4(SLC39A6):c.1846G>T (p.Ala616Ser)	SLC39A6 (A341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164722	NM_012319.4(SLC39A6):c.1834C>A (p.Leu612Ile)	SLC39A6 (L337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211620	NM_012319.4(SLC39A6):c.1771G>A (p.Gly591Ser)	SLC39A6 (G316S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164721	NM_012319.4(SLC39A6):c.1757A>T (p.Glu586Val)	SLC39A6 (E311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164720	NM_012319.4(SLC39A6):c.1598C>T (p.Pro533Leu)	SLC39A6 (P533L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458365	NM_012319.4(SLC39A6):c.1568A>G (p.His523Arg)	SLC39A6 (H248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319772	NM_012319.4(SLC39A6):c.1559C>T (p.Ala520Val)	SLC39A6 (A245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164719	NM_012319.4(SLC39A6):c.1463A>G (p.Asp488Gly)	SLC39A6 (D488G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481057	NM_012319.4(SLC39A6):c.1429C>G (p.Leu477Val)	SLC39A6 (L202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217358	NM_012319.4(SLC39A6):c.1376A>G (p.Glu459Gly)	SLC39A6 (E184G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231282	NM_012319.4(SLC39A6):c.1259C>T (p.Ser420Phe)	SLC39A6 (S420F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369293	NM_012319.4(SLC39A6):c.1244G>A (p.Ser415Asn)	SLC39A6 (S415N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164717	NM_012319.4(SLC39A6):c.1241A>G (p.Glu414Gly)	SLC39A6 (E414G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312280	NM_012319.4(SLC39A6):c.1189G>A (p.Glu397Lys)	SLC39A6 (E397K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609266	NM_012319.4(SLC39A6):c.1183G>A (p.Ala395Thr)	SLC39A6 (A120T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319773	NM_012319.4(SLC39A6):c.1180C>T (p.Pro394Ser)	SLC39A6 (P394S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164716	NM_012319.4(SLC39A6):c.1167T>A (p.His389Gln)	SLC39A6 (H389Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164714	NM_012319.4(SLC39A6):c.1133T>C (p.Leu378Pro)	SLC39A6 (L378P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164713	NM_012319.4(SLC39A6):c.1096G>T (p.Val366Phe)	SLC39A6 (V366F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164712	NM_012319.4(SLC39A6):c.1055T>A (p.Val352Glu)	SLC39A6 (V352E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221765	NM_012319.4(SLC39A6):c.1052G>T (p.Arg351Leu)	SLC39A6 (R76L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164729	NM_012319.4(SLC39A6):c.797A>G (p.Asn266Ser)	SLC39A6 (N266S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164728	NM_012319.4(SLC39A6):c.743G>A (p.Arg248Gln)	SLC39A6 (R248Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380977	NM_012319.4(SLC39A6):c.731T>C (p.Val244Ala)	SLC39A6 (V244A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296732	NM_012319.4(SLC39A6):c.652G>A (p.Val218Ile)	SLC39A6 (V218I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242629	NM_012319.4(SLC39A6):c.649G>T (p.Asp217Tyr)	SLC39A6 (D217Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287681	NM_012319.4(SLC39A6):c.635A>G (p.Lys212Arg)	SLC39A6 (K212R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521336	NM_012319.4(SLC39A6):c.614T>C (p.Ile205Thr)	SLC39A6 (I205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164727	NM_012319.4(SLC39A6):c.583G>A (p.Val195Ile)	SLC39A6 (V195I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391382	NM_012319.4(SLC39A6):c.541A>G (p.Ser181Gly)	SLC39A6 (S181G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258674	NM_012319.4(SLC39A6):c.446A>G (p.His149Arg)	SLC39A6 (H149R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399048	NM_012319.4(SLC39A6):c.437G>A (p.Cys146Tyr)	SLC39A6 (C146Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335056	NM_012319.4(SLC39A6):c.398A>G (p.Asn133Ser)	SLC39A6 (N133S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357108	NM_012319.4(SLC39A6):c.329G>A (p.Arg110His)	SLC39A6 (R110H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164726	NM_012319.4(SLC39A6):c.328C>T (p.Arg110Cys)	SLC39A6 (R110C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607562	NM_012319.4(SLC39A6):c.227G>T (p.Arg76Ile)	SLC39A6 (R76I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164715	NM_012319.4(SLC39A6):c.113C>T (p.Pro38Leu)	SLC39A6 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340677	GRCh37/hg19 18q12.2(chr18:33571456-34552945)x1	MOCOS, ELP2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815999	GRCh37/hg19 18q12.2(chr18:33384923-34561159)x3	C18orf21, ELP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 625733	GRCh37/hg19 18q12.2(chr18:33554981-36939357)	C18orf21, CELF4 +7 more	Copy number loss	not provided	GPathogenic
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	not provided	GPathogenic
Select item 564521	GRCh37/hg19 18q12.2(chr18:32988821-33701451)x3	C18orf21, GALNT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442113	GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1	ASXL3, C18orf21 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 221535	GRCh37/hg19 18q12.2(chr18:33611007-33722860)x4	ELP2, RPRD1A +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 90