SLC16A3[gene] - ClinVar

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Items: 89

	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 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
Select item 2556619	NM_004207.4(SLC16A3):c.8G>T (p.Gly3Val)	SLC16A3 (G3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204218	NM_004207.4(SLC16A3):c.37G>A (p.Val13Ile)	SLC16A3 (V13I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 725993	NM_004207.4(SLC16A3):c.44C>T (p.Ala15Val)	SLC16A3 (A15V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2327558	NM_004207.4(SLC16A3):c.70G>A (p.Val24Met)	SLC16A3 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318938	NM_004207.4(SLC16A3):c.166G>C (p.Gly56Arg)	SLC16A3 (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522346	NM_004207.4(SLC16A3):c.186G>C (p.Trp62Cys)	SLC16A3 (W62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301309	NM_004207.4(SLC16A3):c.191C>T (p.Ser64Phe)	SLC16A3 (S64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163099	NM_004207.4(SLC16A3):c.251G>A (p.Arg84His)	SLC16A3 (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716780	NM_004207.4(SLC16A3):c.267C>T (p.Pro89=)	SLC16A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648490	NM_004207.4(SLC16A3):c.297G>A (p.Ser99=)	SLC16A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347955	NM_004207.4(SLC16A3):c.326G>A (p.Arg109Gln)	SLC16A3 (R109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163100	NM_004207.4(SLC16A3):c.365C>T (p.Thr122Met)	SLC16A3 (T122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318939	NM_004207.4(SLC16A3):c.403A>G (p.Ile135Val)	SLC16A3 (I135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318941	NM_004207.4(SLC16A3):c.414C>G (p.Asn138Lys)	SLC16A3 (N138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356689	NM_004207.4(SLC16A3):c.494C>T (p.Pro165Leu)	SLC16A3 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618219	NM_004207.4(SLC16A3):c.520T>G (p.Tyr174Asp)	SLC16A3 (Y174D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163101	NM_004207.4(SLC16A3):c.535G>A (p.Gly179Ser)	SLC16A3 (G179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282833	NM_004207.4(SLC16A3):c.571T>G (p.Cys191Gly)	SLC16A3 (C191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410133	NM_004207.4(SLC16A3):c.590T>C (p.Met197Thr)	SLC16A3 (M197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311274	NM_004207.4(SLC16A3):c.608C>T (p.Thr203Met)	SLC16A3 (T203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391642	NM_004207.4(SLC16A3):c.626G>A (p.Gly209Glu)	SLC16A3 (G209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318942	NM_004207.4(SLC16A3):c.629C>T (p.Pro210Leu)	SLC16A3 (P210L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472885	NM_004207.4(SLC16A3):c.632C>G (p.Pro211Arg)	SLC16A3 (P211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318940	NM_004207.4(SLC16A3):c.638C>A (p.Pro213His)	SLC16A3 (P213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369984	NM_004207.4(SLC16A3):c.646C>T (p.Arg216Cys)	SLC16A3 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318937	NM_004207.4(SLC16A3):c.647G>T (p.Arg216Leu)	SLC16A3 (R216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556725	NM_004207.4(SLC16A3):c.647G>A (p.Arg216His)	SLC16A3 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614333	NM_004207.4(SLC16A3):c.652C>A (p.Leu218Ile)	SLC16A3 (L218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329339	NM_004207.4(SLC16A3):c.703G>A (p.Ala235Thr)	SLC16A3 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374704	NM_004207.4(SLC16A3):c.734C>T (p.Pro245Leu)	SLC16A3 (P245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208946	NM_004207.4(SLC16A3):c.817A>G (p.Ile273Val)	SLC16A3 (I273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493376	NM_004207.4(SLC16A3):c.818T>C (p.Ile273Thr)	SLC16A3 (I273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163102	NM_004207.4(SLC16A3):c.829G>A (p.Ala277Thr)	SLC16A3 (A277T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775461	NM_004207.4(SLC16A3):c.831G>A (p.Ala277=)	SLC16A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2524090	NM_004207.4(SLC16A3):c.836C>T (p.Pro279Leu)	SLC16A3 (P279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544704	NM_004207.4(SLC16A3):c.872G>A (p.Arg291Gln)	SLC16A3 (R291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284158	NM_004207.4(SLC16A3):c.875C>T (p.Pro292Leu)	SLC16A3 (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163103	NM_004207.4(SLC16A3):c.900C>G (p.Phe300Leu)	SLC16A3 (F300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163104	NM_004207.4(SLC16A3):c.914A>G (p.Asn305Ser)	SLC16A3 (N305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350742	NM_004207.4(SLC16A3):c.928C>G (p.Leu310Val)	SLC16A3 (L310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536706	NM_004207.4(SLC16A3):c.949G>A (p.Asp317Asn)	SLC16A3 (D317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216719	NM_004207.4(SLC16A3):c.1105G>A (p.Val369Ile)	SLC16A3 (V369I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358998	NM_004207.4(SLC16A3):c.1108G>A (p.Gly370Arg)	SLC16A3 (G370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163095	NM_004207.4(SLC16A3):c.1118C>T (p.Ser373Leu)	SLC16A3 (S373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274978	NM_004207.4(SLC16A3):c.1154T>C (p.Met385Thr)	SLC16A3 (M385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404746	NM_004207.4(SLC16A3):c.1172C>T (p.Ala391Val)	SLC16A3 (A391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262118	NM_004207.4(SLC16A3):c.1187T>G (p.Leu396Arg)	SLC16A3 (L396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619145	NM_004207.4(SLC16A3):c.1232G>A (p.Arg411Lys)	SLC16A3 (R411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367709	NM_004207.4(SLC16A3):c.1270G>A (p.Ala424Thr)	SLC16A3 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648491	NM_004207.4(SLC16A3):c.1275G>A (p.Glu425=)	SLC16A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389564	NM_004207.4(SLC16A3):c.1305C>A (p.Asp435Glu)	SLC16A3 (D435E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163096	NM_004207.4(SLC16A3):c.1312G>A (p.Val438Met)	SLC16A3 (V438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163097	NM_004207.4(SLC16A3):c.1315G>C (p.Asp439His)	SLC16A3 (D439H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619379	NM_004207.4(SLC16A3):c.1322G>C (p.Arg441Pro)	SLC16A3 (R441P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648492	NM_004207.4(SLC16A3):c.1362C>T (p.Asn454=)	SLC16A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163098	NM_004207.4(SLC16A3):c.1364G>A (p.Gly455Glu)	SLC16A3 (G455E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302098	NM_004207.4(SLC16A3):c.1381C>G (p.Pro461Ala)	SLC16A3 (P461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053133	NC_000017.11:g.82239966G>A	CSNK1D, SLC16A3	Single nucleotide variant (3 prime UTR variant)	CSNK1D-related disorder	GLikely benign
Select item 3356244	NM_001363749.2(CSNK1D):c.1249C>T (p.Arg417Cys)	CSNK1D, SLC16A3 (R417C)	Single nucleotide variant (missense variant +1 more)	CSNK1D-related disorder	GLikely benign
Select item 3041815	NM_001363749.2(CSNK1D):c.1218T>C (p.Ser406=)	CSNK1D, SLC16A3	Single nucleotide variant (synonymous variant +1 more)	CSNK1D-related disorder	GLikely benign
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
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 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	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 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
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

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Items: 89