SLC16A11[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 3163060	NM_001370549.1(SLC16A11):c.1282G>A (p.Ala428Thr)	SLC16A11 (A428T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508960	NM_001370549.1(SLC16A11):c.1228G>C (p.Gly410Arg)	SLC16A11 (G410R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163059	NM_001370549.1(SLC16A11):c.1225T>A (p.Cys409Ser)	SLC16A11 (C409S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163058	NM_001370549.1(SLC16A11):c.1183G>C (p.Gly395Arg)	SLC16A11 (G395R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553620	NM_001370549.1(SLC16A11):c.1151C>T (p.Ser384Phe)	SLC16A11 (S384F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460331	NM_001370549.1(SLC16A11):c.1088G>A (p.Gly363Glu)	LOC130060101, SLC16A11 (G363E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513690	NM_001370549.1(SLC16A11):c.1066G>C (p.Val356Leu)	SLC16A11 (V356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241454	NM_001370549.1(SLC16A11):c.1024G>C (p.Gly342Arg)	SLC16A11 (G342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217754	NM_001370549.1(SLC16A11):c.965C>T (p.Ala322Val)	SLC16A11 (A322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270902	NM_001370549.1(SLC16A11):c.904G>A (p.Val302Met)	LOC130060102, SLC16A11 (V302M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318915	NM_001370549.1(SLC16A11):c.881T>C (p.Leu294Pro)	LOC130060102, SLC16A11 (L294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163067	NM_001370549.1(SLC16A11):c.761G>A (p.Gly254Glu)	LOC130060102, SLC16A11 (G254E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311561	NM_001370549.1(SLC16A11):c.760G>A (p.Gly254Arg)	LOC130060102, SLC16A11 (G254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223938	NM_001370549.1(SLC16A11):c.752G>C (p.Gly251Ala)	LOC130060102, SLC16A11 (G251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471813	NM_001370549.1(SLC16A11):c.716T>C (p.Val239Ala)	LOC130060102, SLC16A11 (V239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226065	NM_001370549.1(SLC16A11):c.709C>T (p.Pro237Ser)	LOC130060102, SLC16A11 (P237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257972	NM_001370549.1(SLC16A11):c.697G>A (p.Gly233Arg)	LOC130060102, SLC16A11 (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266898	NM_001370549.1(SLC16A11):c.683C>G (p.Ala228Gly)	LOC130060102, SLC16A11 (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543804	NM_001370549.1(SLC16A11):c.680C>G (p.Thr227Arg)	LOC130060102, SLC16A11 (T227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349439	NM_001370549.1(SLC16A11):c.641T>C (p.Leu214Pro)	LOC130060102, SLC16A11 (L214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348149	NM_001370549.1(SLC16A11):c.610C>T (p.Arg204Cys)	LOC130060102, SLC16A11 (R204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163065	NM_001370549.1(SLC16A11):c.586C>A (p.Pro196Thr)	LOC130060102, SLC16A11 (P196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341191	NM_001370549.1(SLC16A11):c.529G>T (p.Gly177Cys)	SLC16A11 (G177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251399	NM_001370549.1(SLC16A11):c.515C>A (p.Ala172Asp)	SLC16A11 (A172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318916	NM_001370549.1(SLC16A11):c.508C>T (p.Arg170Trp)	SLC16A11 (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306349	NM_001370549.1(SLC16A11):c.497C>T (p.Thr166Ile)	SLC16A11 (T166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163064	NM_001370549.1(SLC16A11):c.494A>T (p.Asp165Val)	SLC16A11 (D165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560786	NM_001370549.1(SLC16A11):c.493G>C (p.Asp165His)	SLC16A11 (D165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219416	NM_001370549.1(SLC16A11):c.458C>T (p.Ser153Leu)	SLC16A11 (S153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318913	NM_001370549.1(SLC16A11):c.427G>A (p.Gly143Arg)	SLC16A11 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163063	NM_001370549.1(SLC16A11):c.385A>G (p.Thr129Ala)	SLC16A11 (T129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318911	NM_001370549.1(SLC16A11):c.365T>C (p.Val122Ala)	SLC16A11 (V122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496239	NM_001370549.1(SLC16A11):c.329G>T (p.Gly110Val)	SLC16A11 (G110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310900	NM_001370549.1(SLC16A11):c.317A>G (p.His106Arg)	SLC16A11 (H106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1182780	NM_001370549.1(SLC16A11):c.308A>G (p.Asp103Gly)	SLC16A11 (D103G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2457690	NM_001370549.1(SLC16A11):c.307G>T (p.Asp103Tyr)	SLC16A11 (D103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403788	NM_001370549.1(SLC16A11):c.281G>A (p.Gly94Asp)	SLC16A11 (G94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318914	NM_001370549.1(SLC16A11):c.247G>A (p.Val83Met)	SLC16A11 (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508961	NM_001370549.1(SLC16A11):c.247G>T (p.Val83Leu)	SLC16A11 (V83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618123	NM_001370549.1(SLC16A11):c.209T>C (p.Val70Ala)	SLC16A11 (V70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408386	NM_001370549.1(SLC16A11):c.205C>T (p.Pro69Ser)	SLC16A11 (P69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163062	NM_001370549.1(SLC16A11):c.192G>T (p.Gln64His)	SLC16A11 (Q64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163061	NM_001370549.1(SLC16A11):c.149C>T (p.Ala50Val)	SLC16A11 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478752	NM_001370549.1(SLC16A11):c.130G>A (p.Glu44Lys)	SLC16A11 (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339781	NM_001370549.1(SLC16A11):c.79C>G (p.Leu27Val)	SLC16A11 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318912	NM_001370549.1(SLC16A11):c.7C>G (p.Pro3Ala)	SLC16A11 (P3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509691	NM_001370549.1(SLC16A11):c.5C>T (p.Thr2Ile)	SLC16A11 (T2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 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

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Items: 72