28237[HGNC] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 154635	GRCh38/hg38 17q25.3(chr17:81145383-81251829)x3	AATK, CEP131 +12 more	Copy number gain	See cases	GBenign
Select item 2242389	NM_001037984.3(SLC38A10):c.3313C>T (p.His1105Tyr)	SLC38A10 (H1105Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357189	NM_001037984.3(SLC38A10):c.3280C>T (p.Arg1094Cys)	SLC38A10 (R1094C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034657	NM_001037984.3(SLC38A10):c.3065T>C (p.Leu1022Pro)	SLC38A10 (L1022P)	Single nucleotide variant (missense variant)	SLC38A10-related disorder	GLikely benign
Select item 3164547	NM_001037984.3(SLC38A10):c.2919G>C (p.Gln973His)	SLC38A10 (Q973H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368127	NM_001037984.3(SLC38A10):c.2816C>T (p.Ala939Val)	SLC38A10 (A939V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3037674	NM_001037984.3(SLC38A10):c.2779A>G (p.Lys927Glu)	SLC38A10 (K927E)	Single nucleotide variant (missense variant)	SLC38A10-related disorder	GLikely benign
Select item 2239374	NM_001037984.3(SLC38A10):c.2713A>G (p.Ser905Gly)	SLC38A10 (S905G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3355717	NM_001037984.3(SLC38A10):c.2695G>T (p.Val899Leu)	SLC38A10 (V899L)	Single nucleotide variant (missense variant)	SLC38A10-related disorder	GUncertain significance
Select item 2248189	NM_001037984.3(SLC38A10):c.2618G>A (p.Arg873His)	SLC38A10 (R873H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220356	NM_001037984.3(SLC38A10):c.2590G>A (p.Ala864Thr)	SLC38A10 (A864T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050225	NM_001037984.3(SLC38A10):c.2065+253G>A	SLC38A10 (R773H)	Single nucleotide variant (missense variant +1 more)	SLC38A10-related disorder	GLikely benign
Select item 3041712	NM_001037984.3(SLC38A10):c.2065+54C>T	SLC38A10 (L707F)	Single nucleotide variant (missense variant +1 more)	SLC38A10-related disorder	GLikely benign
Select item 2546355	NM_001037984.3(SLC38A10):c.2048C>T (p.Ala683Val)	SLC38A10 (A683V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164545	NM_001037984.3(SLC38A10):c.2033C>T (p.Ala678Val)	SLC38A10 (A678V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379290	NM_001037984.3(SLC38A10):c.2030G>A (p.Arg677Gln)	SLC38A10 (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031872	NM_001037984.3(SLC38A10):c.2010C>T (p.Arg670=)	SLC38A10	Single nucleotide variant (synonymous variant)	SLC38A10-related disorder	GLikely benign
Select item 2269136	NM_001037984.3(SLC38A10):c.1994T>G (p.Leu665Arg)	SLC38A10 (L665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611968	NM_001037984.3(SLC38A10):c.1985G>T (p.Gly662Val)	SLC38A10 (G662V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246670	NM_001037984.3(SLC38A10):c.1898G>T (p.Gly633Val)	SLC38A10 (G633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379787	NM_001037984.3(SLC38A10):c.1892C>T (p.Pro631Leu)	SLC38A10 (P631L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469994	NM_001037984.3(SLC38A10):c.1889C>T (p.Pro630Leu)	SLC38A10 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356690	NM_001037984.3(SLC38A10):c.1882G>A (p.Gly628Arg)	SLC38A10 (G628R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164544	NM_001037984.3(SLC38A10):c.1849G>A (p.Gly617Ser)	SLC38A10 (G617S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463917	NM_001037984.3(SLC38A10):c.1810C>T (p.His604Tyr)	SLC38A10 (H604Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553055	NM_001037984.3(SLC38A10):c.1808T>C (p.Leu603Pro)	SLC38A10 (L603P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307742	NM_001037984.3(SLC38A10):c.1756C>G (p.Gln586Glu)	SLC38A10 (Q586E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164543	NM_001037984.3(SLC38A10):c.1750G>C (p.Asp584His)	SLC38A10 (D584H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319698	NM_001037984.3(SLC38A10):c.1712G>A (p.Gly571Asp)	SLC38A10 (G571D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547155	NM_001037984.3(SLC38A10):c.1678A>T (p.Arg560Trp)	SLC38A10 (R560W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380723	NM_001037984.3(SLC38A10):c.1655C>T (p.Pro552Leu)	SLC38A10 (P552L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226157	NM_001037984.3(SLC38A10):c.1622C>G (p.Pro541Arg)	SLC38A10 (P541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164542	NM_001037984.3(SLC38A10):c.1594C>T (p.Pro532Ser)	SLC38A10 (P532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164541	NM_001037984.3(SLC38A10):c.1580C>T (p.Ala527Val)	SLC38A10 (A527V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614224	NM_001037984.3(SLC38A10):c.1486C>T (p.Arg496Cys)	SLC38A10 (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164540	NM_001037984.3(SLC38A10):c.1477G>A (p.Glu493Lys)	SLC38A10 (E493K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223204	NM_001037984.3(SLC38A10):c.1453C>G (p.Gln485Glu)	SLC38A10 (Q485E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530095	NM_001037984.3(SLC38A10):c.1445G>A (p.Arg482His)	SLC38A10 (R482H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164539	NM_001037984.3(SLC38A10):c.1352G>A (p.Arg451Lys)	SLC38A10 (R451K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482311	NM_001037984.3(SLC38A10):c.1343C>T (p.Pro448Leu)	SLC38A10 (P448L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382184	NM_001037984.3(SLC38A10):c.1325G>A (p.Arg442Gln)	SLC38A10 (R442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545053	NM_001037984.3(SLC38A10):c.1324C>T (p.Arg442Trp)	SLC38A10 (R442W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486638	NM_001037984.3(SLC38A10):c.1282C>T (p.Leu428Phe)	SLC38A10 (L428F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319697	NM_001037984.3(SLC38A10):c.1256G>T (p.Gly419Val)	SLC38A10 (G419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373051	NM_001037984.3(SLC38A10):c.1252G>A (p.Glu418Lys)	SLC38A10 (E418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238285	NM_001037984.3(SLC38A10):c.1240C>T (p.Leu414Phe)	SLC38A10 (L414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038381	NM_001037984.3(SLC38A10):c.1146C>T (p.Val382=)	SLC38A10	Single nucleotide variant (synonymous variant)	SLC38A10-related disorder	GBenign
Select item 2388820	NM_001037984.3(SLC38A10):c.1124C>G (p.Ser375Cys)	SLC38A10 (S375C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319700	NM_001037984.3(SLC38A10):c.1114A>C (p.Asn372His)	SLC38A10 (N372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479952	NM_001037984.3(SLC38A10):c.1051G>A (p.Ala351Thr)	SLC38A10 (A351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393510	NM_001037984.3(SLC38A10):c.959G>A (p.Arg320Gln)	SLC38A10 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616966	NM_001037984.3(SLC38A10):c.950C>A (p.Pro317His)	SLC38A10 (P317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218217	NM_001037984.3(SLC38A10):c.928T>G (p.Phe310Val)	SLC38A10 (F310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264333	NM_001037984.3(SLC38A10):c.893C>T (p.Thr298Met)	SLC38A10 (T298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241882	NM_001037984.3(SLC38A10):c.884C>T (p.Ala295Val)	SLC38A10 (A295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164554	NM_001037984.3(SLC38A10):c.877A>G (p.Arg293Gly)	SLC38A10 (R293G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295984	NM_001037984.3(SLC38A10):c.865A>G (p.Ile289Val)	SLC38A10 (I289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164551	NM_001037984.3(SLC38A10):c.820C>T (p.Arg274Cys)	SLC38A10 (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385556	NM_001037984.3(SLC38A10):c.784A>G (p.Met262Val)	SLC38A10 (M262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164550	NM_001037984.3(SLC38A10):c.751A>G (p.Ser251Gly)	SLC38A10 (S251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164549	NM_001037984.3(SLC38A10):c.563A>G (p.Tyr188Cys)	SLC38A10 (Y188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532630	NM_001037984.3(SLC38A10):c.526G>A (p.Gly176Ser)	SLC38A10 (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234480	NM_001037984.3(SLC38A10):c.373C>T (p.Arg125Cys)	SLC38A10 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557147	NM_001037984.3(SLC38A10):c.343C>A (p.Leu115Met)	SLC38A10 (L115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213513	NM_001037984.3(SLC38A10):c.330C>A (p.Asn110Lys)	SLC38A10 (N110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272640	NM_001037984.3(SLC38A10):c.320T>G (p.Leu107Trp)	SLC38A10 (L107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164548	NM_001037984.3(SLC38A10):c.304G>A (p.Val102Ile)	SLC38A10 (V102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164546	NM_001037984.3(SLC38A10):c.211G>A (p.Gly71Ser)	SLC38A10 (G71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254379	NM_001037984.3(SLC38A10):c.127T>G (p.Leu43Val)	SLC38A10 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291137	NM_001037984.3(SLC38A10):c.119C>T (p.Ala40Val)	SLC38A10 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470695	NM_001037984.3(SLC38A10):c.109G>A (p.Val37Ile)	SLC38A10 (V37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327149	NM_001037984.3(SLC38A10):c.80T>A (p.Met27Lys)	LOC130061934, SLC38A10 (M27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618662	NM_001037984.3(SLC38A10):c.55A>G (p.Ile19Val)	SLC38A10 (I19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394064	GRCh37/hg19 17q25.3(chr17:79247325-79304306)x3	SLC38A10, TMEM105	Copy number gain	See cases	GLikely benign

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Items: 92