ClinVar for Gene (Select 117247) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318910	NM_018593.5(SLC16A10):c.1066G>A (p.Val356Met)	SLC16A10 (V356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318909	NM_018593.5(SLC16A10):c.194C>T (p.Pro65Leu)	SLC16A10 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318908	NM_018593.5(SLC16A10):c.176A>G (p.His59Arg)	SLC16A10 (H59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318907	NM_018593.5(SLC16A10):c.1475T>C (p.Met492Thr)	SLC16A10 (M492T)	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 3163057	NM_018593.5(SLC16A10):c.808C>T (p.Leu270Phe)	SLC16A10 (L270F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163056	NM_018593.5(SLC16A10):c.799G>A (p.Gly267Arg)	SLC16A10 (G267R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163055	NM_018593.5(SLC16A10):c.579C>G (p.His193Gln)	SLC16A10 (H193Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163054	NM_018593.5(SLC16A10):c.1495C>G (p.Leu499Val)	SLC16A10 (L499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163053	NM_018593.5(SLC16A10):c.1259T>C (p.Ile420Thr)	SLC16A10 (I420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163052	NM_018593.5(SLC16A10):c.1174A>C (p.Met392Leu)	SLC16A10 (M392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163051	NM_018593.5(SLC16A10):c.1157T>C (p.Ile386Thr)	SLC16A10 (I386T)	Single nucleotide variant (missense variant)	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 2615397	NM_018593.5(SLC16A10):c.1454G>C (p.Gly485Ala)	SLC16A10 (G485A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606893	NM_018593.5(SLC16A10):c.644T>A (p.Ile215Asn)	SLC16A10 (I215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568889	NM_018593.5(SLC16A10):c.316G>A (p.Asp106Asn)	SLC16A10 (D106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555628	NM_018593.5(SLC16A10):c.451G>C (p.Val151Leu)	SLC16A10 (V151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524779	NM_018593.5(SLC16A10):c.437T>C (p.Val146Ala)	SLC16A10 (V146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494327	NM_018593.5(SLC16A10):c.248C>T (p.Ser83Leu)	SLC16A10 (S83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475366	NM_018593.5(SLC16A10):c.314A>G (p.Lys105Arg)	SLC16A10 (K105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471445	NM_018593.5(SLC16A10):c.104C>T (p.Pro35Leu)	LOC129996984, SLC16A10 (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457408	NM_018593.5(SLC16A10):c.956A>G (p.Asn319Ser)	SLC16A10 (N319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409042	NM_018593.5(SLC16A10):c.425G>A (p.Arg142Gln)	SLC16A10 (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365358	NM_018593.5(SLC16A10):c.43A>C (p.Ser15Arg)	LOC129996984, SLC16A10 (S15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365322	NM_018593.5(SLC16A10):c.40A>C (p.Thr14Pro)	LOC129996984, SLC16A10 (T14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328973	NM_018593.5(SLC16A10):c.1491C>G (p.Asn497Lys)	SLC16A10 (N497K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326186	NM_018593.5(SLC16A10):c.1247T>A (p.Val416Asp)	SLC16A10 (V416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288342	NM_018593.5(SLC16A10):c.328A>T (p.Met110Leu)	SLC16A10 (M110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281470	NM_018593.5(SLC16A10):c.1409C>T (p.Pro470Leu)	SLC16A10 (P470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259701	NM_018593.5(SLC16A10):c.46G>A (p.Glu16Lys)	LOC129996984, SLC16A10 (E16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245644	NM_018593.5(SLC16A10):c.1102T>G (p.Phe368Val)	SLC16A10 (F368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236837	NM_018593.5(SLC16A10):c.1114A>C (p.Met372Leu)	SLC16A10 (M372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231249	NM_018593.5(SLC16A10):c.1043G>A (p.Arg348Gln)	SLC16A10 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808287	GRCh37/hg19 6q21(chr6:111198703-111878472)x3	AMD1, GTF3C6 +6 more	Copy number gain	not provided	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 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 814864	GRCh37/hg19 6q21(chr6:111503087-111731131)x3	MFSD4B, SLC16A10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814863	GRCh37/hg19 6q21(chr6:111434909-111662102)x3	SLC16A10, REV3L +1 more	Copy number gain	not provided	GLikely benign
Select item 782253	NM_018593.5(SLC16A10):c.738G>C (p.Leu246=)	SLC16A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761212	NM_018593.5(SLC16A10):c.1111C>T (p.Leu371=)	SLC16A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737124	NM_018593.5(SLC16A10):c.252G>A (p.Val84=)	SLC16A10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713154	NM_018593.5(SLC16A10):c.562T>C (p.Leu188=)	SLC16A10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 685005	GRCh37/hg19 6q21(chr6:111437859-111765932)x3	MFSD4B, REV3L +1 more	Copy number gain	not provided	GUncertain significance
Select item 563220	GRCh37/hg19 6q21(chr6:111503087-111747187)x3	SLC16A10, REV3L +1 more	Copy number gain	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
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 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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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: 63