SLC39A10[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57163	GRCh38/hg38 2q32.3(chr2:195270237-195722242)x1	LINC01825, LINC01827 +8 more	Copy number loss	See cases	GUncertain significance
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 2539644	NM_020342.3(SLC39A10):c.8T>C (p.Val3Ala)	SLC39A10 (V3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164633	NM_020342.3(SLC39A10):c.27T>A (p.Phe9Leu)	SLC39A10 (F9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332163	NM_020342.3(SLC39A10):c.208C>T (p.Arg70Cys)	SLC39A10 (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246827	NM_020342.3(SLC39A10):c.307G>T (p.Asp103Tyr)	SLC39A10 (D103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164634	NM_020342.3(SLC39A10):c.319G>A (p.Asp107Asn)	SLC39A10 (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164635	NM_020342.3(SLC39A10):c.326T>C (p.Val109Ala)	SLC39A10 (V109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164636	NM_020342.3(SLC39A10):c.341T>C (p.Ile114Thr)	SLC39A10 (I114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319735	NM_020342.3(SLC39A10):c.475A>G (p.Thr159Ala)	SLC39A10 (T159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319734	NM_020342.3(SLC39A10):c.521A>G (p.His174Arg)	SLC39A10 (H174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164637	NM_020342.3(SLC39A10):c.530G>A (p.Arg177His)	SLC39A10 (R177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319739	NM_020342.3(SLC39A10):c.536G>A (p.Arg179His)	SLC39A10 (R179H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466076	NM_020342.3(SLC39A10):c.548G>A (p.Arg183His)	SLC39A10 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240464	NM_020342.3(SLC39A10):c.664G>A (p.Glu222Lys)	SLC39A10 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204157	NM_020342.3(SLC39A10):c.686C>A (p.Pro229Gln)	SLC39A10 (P229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164639	NM_020342.3(SLC39A10):c.806C>T (p.Pro269Leu)	SLC39A10 (P269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456694	NM_020342.3(SLC39A10):c.865G>A (p.Asp289Asn)	SLC39A10 (D289N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470442	NM_020342.3(SLC39A10):c.944A>G (p.His315Arg)	SLC39A10 (H315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340239	NM_020342.3(SLC39A10):c.959C>T (p.Ala320Val)	SLC39A10 (A320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319738	NM_020342.3(SLC39A10):c.1010G>A (p.Cys337Tyr)	SLC39A10 (C337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367364	NM_020342.3(SLC39A10):c.1054A>T (p.Asn352Tyr)	SLC39A10 (N352Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319737	NM_020342.3(SLC39A10):c.1351A>G (p.Met451Val)	SLC39A10 (M451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319741	NM_020342.3(SLC39A10):c.1370T>C (p.Leu457Pro)	SLC39A10 (L457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319736	NM_020342.3(SLC39A10):c.1733A>T (p.Asn578Ile)	SLC39A10 (N578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526835	NM_020342.3(SLC39A10):c.1813A>G (p.Ile605Val)	SLC39A10 (I605V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164626	NM_020342.3(SLC39A10):c.1858G>T (p.Asp620Tyr)	SLC39A10 (D620Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363588	NM_020342.3(SLC39A10):c.1873G>A (p.Ala625Thr)	SLC39A10 (A625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164627	NM_020342.3(SLC39A10):c.1891G>A (p.Glu631Lys)	SLC39A10 (E631K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316256	NM_020342.3(SLC39A10):c.2023A>T (p.Met675Leu)	SLC39A10 (M675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164628	NM_020342.3(SLC39A10):c.2182G>A (p.Val728Ile)	SLC39A10 (V728I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164629	NM_020342.3(SLC39A10):c.2216C>T (p.Ala739Val)	SLC39A10 (A739V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164630	NM_020342.3(SLC39A10):c.2218A>G (p.Met740Val)	SLC39A10 (M740V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473902	NM_020342.3(SLC39A10):c.2266G>A (p.Ala756Thr)	SLC39A10 (A756T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164631	NM_020342.3(SLC39A10):c.2377C>A (p.His793Asn)	SLC39A10 (H793N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337100	NM_020342.3(SLC39A10):c.2399A>G (p.Gln800Arg)	SLC39A10 (Q800R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1340761	GRCh37/hg19 2q32.3(chr2:196590319-196642836)x1	DNAH7, SLC39A10	Copy number loss	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 689007	GRCh37/hg19 2q32.3(chr2:196483256-196951980)x3	DNAH7, SLC39A10	Copy number gain	not provided	GUncertain significance
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562645	GRCh37/hg19 2q32.3-33.1(chr2:195883643-197504800)x1	CCDC150, DNAH7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic

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Items: 69