ClinVar for Gene (Select 85413) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3163389	NM_033125.4(SLC22A16):c.575T>A (p.Met192Lys)	SLC22A16 (M192K)	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 3163387	NM_033125.4(SLC22A16):c.397C>G (p.Gln133Glu)	SLC22A16 (Q133E)	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 3163385	NM_033125.4(SLC22A16):c.27T>G (p.Ile9Met)	SLC22A16 (I9M)	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 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 3163380	NM_033125.4(SLC22A16):c.1344G>A (p.Met448Ile)	SLC22A16 (M448I)	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 3163378	NM_033125.4(SLC22A16):c.1158T>G (p.Asn386Lys)	SLC22A16 (N386K)	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 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 2621759	NM_033125.4(SLC22A16):c.541C>A (p.Arg181Ser)	SLC22A16 (R181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2525250	NM_033125.4(SLC22A16):c.817A>T (p.Ile273Phe)	SLC22A16 (I273F)	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 2457863	NM_033125.4(SLC22A16):c.1222G>C (p.Ala408Pro)	SLC22A16 (A408P)	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 2378010	NM_033125.4(SLC22A16):c.1669A>G (p.Thr557Ala)	SLC22A16 (T557A)	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 2371871	NM_033125.4(SLC22A16):c.1456C>T (p.Arg486Cys)	SLC22A16 (R486C)	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 2350966	NM_033125.4(SLC22A16):c.1363G>A (p.Gly455Arg)	SLC22A16 (G455R)	Single nucleotide variant (missense variant)	not specified	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 2338249	NM_033125.4(SLC22A16):c.1012C>T (p.Pro338Ser)	SLC22A16 (P338S)	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 2305721	NM_033125.4(SLC22A16):c.1429G>A (p.Ala477Thr)	SLC22A16 (A477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2278331	NM_033125.4(SLC22A16):c.1454G>T (p.Cys485Phe)	SLC22A16 (C485F)	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 2222752	NM_033125.4(SLC22A16):c.724G>A (p.Ala242Thr)	SLC22A16 (A242T)	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 2212594	NM_033125.4(SLC22A16):c.973C>A (p.Leu325Ile)	SLC22A16 (L325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +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	AFG1L, AK9 +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 784095	NM_033125.4(SLC22A16):c.888C>G (p.Leu296=)	SLC22A16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712559	NM_033125.4(SLC22A16):c.1294G>A (p.Val432Ile)	SLC22A16 (V432I)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	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 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 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 65