SLC22A16[gene] - ClinVar

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

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2341804	NM_033125.4(SLC22A16):c.1700C>T (p.Ala567Val)	SLC22A16 (A567V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378010	NM_033125.4(SLC22A16):c.1669A>G (p.Thr557Ala)	SLC22A16 (T557A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163384	NM_033125.4(SLC22A16):c.1643G>A (p.Ser548Asn)	SLC22A16 (S548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319084	NM_033125.4(SLC22A16):c.1574C>A (p.Pro525Gln)	SLC22A16 (P525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163383	NM_033125.4(SLC22A16):c.1551T>G (p.Ser517Arg)	SLC22A16 (S517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163382	NM_033125.4(SLC22A16):c.1480T>C (p.Phe494Leu)	SLC22A16 (F494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163381	NM_033125.4(SLC22A16):c.1478C>T (p.Pro493Leu)	SLC22A16 (P493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371871	NM_033125.4(SLC22A16):c.1456C>T (p.Arg486Cys)	SLC22A16 (R486C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278331	NM_033125.4(SLC22A16):c.1454G>T (p.Cys485Phe)	SLC22A16 (C485F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305721	NM_033125.4(SLC22A16):c.1429G>A (p.Ala477Thr)	SLC22A16 (A477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350966	NM_033125.4(SLC22A16):c.1363G>A (p.Gly455Arg)	SLC22A16 (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313263	NM_033125.4(SLC22A16):c.1346T>G (p.Val449Gly)	SLC22A16 (V449G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163380	NM_033125.4(SLC22A16):c.1344G>A (p.Met448Ile)	SLC22A16 (M448I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712559	NM_033125.4(SLC22A16):c.1294G>A (p.Val432Ile)	SLC22A16 (V432I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2457863	NM_033125.4(SLC22A16):c.1222G>C (p.Ala408Pro)	SLC22A16 (A408P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319085	NM_033125.4(SLC22A16):c.1201G>A (p.Ala401Thr)	SLC22A16 (A401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163379	NM_033125.4(SLC22A16):c.1180C>G (p.Leu394Val)	SLC22A16 (L394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467921	NM_033125.4(SLC22A16):c.1169A>G (p.Asn390Ser)	SLC22A16 (N390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163378	NM_033125.4(SLC22A16):c.1158T>G (p.Asn386Lys)	SLC22A16 (N386K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358383	NM_033125.4(SLC22A16):c.1138T>C (p.Ser380Pro)	SLC22A16 (S380P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319080	NM_033125.4(SLC22A16):c.1133T>G (p.Leu378Trp)	SLC22A16 (L378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163377	NM_033125.4(SLC22A16):c.1013C>T (p.Pro338Leu)	SLC22A16 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338249	NM_033125.4(SLC22A16):c.1012C>T (p.Pro338Ser)	SLC22A16 (P338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212594	NM_033125.4(SLC22A16):c.973C>A (p.Leu325Ile)	SLC22A16 (L325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163393	NM_033125.4(SLC22A16):c.932T>C (p.Met311Thr)	SLC22A16 (M311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319083	NM_033125.4(SLC22A16):c.899G>A (p.Arg300Gln)	SLC22A16 (R300Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319082	NM_033125.4(SLC22A16):c.896G>C (p.Gly299Ala)	SLC22A16 (G299A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784095	NM_033125.4(SLC22A16):c.888C>G (p.Leu296=)	SLC22A16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3319079	NM_033125.4(SLC22A16):c.875C>T (p.Pro292Leu)	SLC22A16 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377754	NM_033125.4(SLC22A16):c.858G>C (p.Trp286Cys)	SLC22A16 (W286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525250	NM_033125.4(SLC22A16):c.817A>T (p.Ile273Phe)	SLC22A16 (I273F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222752	NM_033125.4(SLC22A16):c.724G>A (p.Ala242Thr)	SLC22A16 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163391	NM_033125.4(SLC22A16):c.632C>G (p.Ala211Gly)	SLC22A16 (A211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163390	NM_033125.4(SLC22A16):c.596C>T (p.Ala199Val)	SLC22A16 (A199V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280089	NM_033125.4(SLC22A16):c.596C>A (p.Ala199Glu)	SLC22A16 (A199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163389	NM_033125.4(SLC22A16):c.575T>A (p.Met192Lys)	SLC22A16 (M192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319081	NM_033125.4(SLC22A16):c.565A>G (p.Ser189Gly)	SLC22A16 (S189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621759	NM_033125.4(SLC22A16):c.541C>A (p.Arg181Ser)	SLC22A16 (R181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163388	NM_033125.4(SLC22A16):c.506C>T (p.Ser169Leu)	SLC22A16 (S169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216636	NM_033125.4(SLC22A16):c.445G>C (p.Asp149His)	SLC22A16 (D149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163387	NM_033125.4(SLC22A16):c.397C>G (p.Gln133Glu)	SLC22A16 (Q133E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381854	NM_033125.4(SLC22A16):c.396C>G (p.Asp132Glu)	SLC22A16 (D132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163386	NM_033125.4(SLC22A16):c.329C>T (p.Ser110Leu)	SLC22A16 (S110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251431	NM_033125.4(SLC22A16):c.314A>G (p.Lys105Arg)	SLC22A16 (K105R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619610	NM_033125.4(SLC22A16):c.313A>G (p.Lys105Glu)	SLC22A16 (K105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163385	NM_033125.4(SLC22A16):c.27T>G (p.Ile9Met)	SLC22A16 (I9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062935	GRCh37/hg19 6q21(chr6:110683352-111350364)x3	AMD1, CDK19 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 1705886	GRCh37/hg19 6q21(chr6:110720327-111091182)x3	SLC22A16, CDK19 +1 more	Copy number gain	Seizure	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 980218	GRCh37/hg19 6q21(chr6:110288308-110768384)x3	DDO, GPR6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	Copy number loss	not provided	GUncertain significance
Select item 563218	GRCh37/hg19 6q21(chr6:110419878-111698827)x1	SLC22A16, REV3L +10 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 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: 73