SLC16A4[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2606193	NM_004696.3(SLC16A4):c.1437C>G (p.Ala479=)	SLC16A4 (P376R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2217524	NM_004696.3(SLC16A4):c.1369G>T (p.Gly457Cys)	SLC16A4 (G289C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594511	NM_004696.3(SLC16A4):c.1291A>G (p.Ser431Gly)	SLC16A4 (S369G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409572	NM_004696.3(SLC16A4):c.1256G>C (p.Arg419Thr)	SLC16A4 (R419T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318943	NM_004696.3(SLC16A4):c.1225T>A (p.Leu409Met)	SLC16A4 (L179M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163105	NM_004696.3(SLC16A4):c.1117C>T (p.Leu373Phe)	SLC16A4 (L143F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480030	NM_004696.3(SLC16A4):c.996C>A (p.Asp332Glu)	SLC16A4 (D222E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318944	NM_004696.3(SLC16A4):c.859T>C (p.Cys287Arg)	SLC16A4 (C225R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163107	NM_004696.3(SLC16A4):c.778G>A (p.Glu260Lys)	SLC16A4 (E212K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568828	NM_004696.3(SLC16A4):c.701A>C (p.Glu234Ala)	SLC16A4 (E172A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359245	NM_004696.3(SLC16A4):c.662A>C (p.Glu221Ala)	SLC16A4 (E173A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549278	NM_004696.3(SLC16A4):c.656G>T (p.Gly219Val)	SLC16A4 (G219V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554148	NM_004696.3(SLC16A4):c.638G>A (p.Ser213Asn)	SLC16A4 (S165N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541498	NM_004696.3(SLC16A4):c.575G>A (p.Ser192Asn)	SLC16A4 (S130N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318945	NM_004696.3(SLC16A4):c.568C>G (p.Pro190Ala)	SLC16A4 (P190A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769522	NM_004696.3(SLC16A4):c.553G>A (p.Ala185Thr)	SLC16A4 (A137T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3163106	NM_004696.3(SLC16A4):c.536T>G (p.Ile179Arg)	SLC16A4 (I179R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398765	NM_004696.3(SLC16A4):c.449T>C (p.Ile150Thr)	SLC16A4 (I150T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343856	NM_004696.3(SLC16A4):c.362C>T (p.Pro121Leu)	SLC16A4 (P121L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468211	NM_004696.3(SLC16A4):c.209G>A (p.Arg70His)	SLC16A4 (R70H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379474	NM_004696.3(SLC16A4):c.197T>A (p.Met66Lys)	SLC16A4 (M66K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382601	NM_004696.3(SLC16A4):c.52G>A (p.Gly18Arg)	SLC16A4 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1809023	GRCh37/hg19 1p13.3(chr1:110662135-111401322)x3	KCNA10, KCNA2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1459387	NC_000001.10:g.(?_110603355)_(111147404_?)del	ALX3, KCNA10 +8 more	Deletion	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 41