SLC16A6[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 2317226	NM_004694.5(SLC16A6):c.1552G>A (p.Val518Met)	ARSG, SLC16A6 (V518M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163118	NM_004694.5(SLC16A6):c.1477C>T (p.Arg493Cys)	SLC16A6, ARSG (R493C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236762	NM_004694.5(SLC16A6):c.1310C>T (p.Pro437Leu)	ARSG, SLC16A6 (P437L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163117	NM_004694.5(SLC16A6):c.1096G>A (p.Val366Ile)	ARSG, SLC16A6 (V366I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620247	NM_004694.5(SLC16A6):c.944T>G (p.Ile315Ser)	ARSG, SLC16A6 (I315S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248416	NM_004694.5(SLC16A6):c.931C>T (p.Pro311Ser)	ARSG, SLC16A6 (P311S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307740	NM_004694.5(SLC16A6):c.904C>A (p.Leu302Ile)	SLC16A6, ARSG (L302I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318947	NM_004694.5(SLC16A6):c.889T>C (p.Tyr297His)	ARSG, SLC16A6 (Y297H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318950	NM_004694.5(SLC16A6):c.845C>T (p.Pro282Leu)	ARSG, SLC16A6 (P282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717112	NM_004694.5(SLC16A6):c.816C>G (p.Thr272=)	ARSG, SLC16A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3318949	NM_004694.5(SLC16A6):c.815C>A (p.Thr272Asn)	ARSG, SLC16A6 (T272N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318948	NM_004694.5(SLC16A6):c.772G>C (p.Glu258Gln)	ARSG, SLC16A6 (E258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264792	NM_004694.5(SLC16A6):c.734C>T (p.Thr245Ile)	ARSG, SLC16A6 (T245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222962	NM_004694.5(SLC16A6):c.695G>A (p.Arg232Gln)	ARSG, SLC16A6 (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261693	NM_004694.5(SLC16A6):c.676C>G (p.Leu226Val)	ARSG, SLC16A6 (L226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163126	NM_004694.5(SLC16A6):c.665C>T (p.Ala222Val)	ARSG, SLC16A6 (A222V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163125	NM_004694.5(SLC16A6):c.656G>A (p.Arg219Gln)	ARSG, SLC16A6 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492710	NM_004694.5(SLC16A6):c.647A>G (p.Gln216Arg)	ARSG, SLC16A6 (Q216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163124	NM_004694.5(SLC16A6):c.581T>G (p.Val194Gly)	ARSG, SLC16A6 (V194G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346062	NM_004694.5(SLC16A6):c.577A>G (p.Ile193Val)	ARSG, SLC16A6 (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769923	NM_004694.5(SLC16A6):c.567A>G (p.Leu189=)	ARSG, SLC16A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2648150	NM_004694.5(SLC16A6):c.549C>T (p.Leu183=)	ARSG, SLC16A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379079	NM_004694.5(SLC16A6):c.484G>A (p.Ala162Thr)	ARSG, SLC16A6 (A162T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473230	NM_004694.5(SLC16A6):c.461T>C (p.Val154Ala)	ARSG, SLC16A6 (V154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163123	NM_004694.5(SLC16A6):c.383G>A (p.Gly128Glu)	ARSG, SLC16A6 (G128E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163122	NM_004694.5(SLC16A6):c.358G>A (p.Ala120Thr)	ARSG, SLC16A6 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163121	NM_004694.5(SLC16A6):c.350T>C (p.Met117Thr)	ARSG, SLC16A6 (M117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163120	NM_004694.5(SLC16A6):c.334C>A (p.Gln112Lys)	ARSG, SLC16A6 (Q112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289316	NM_004694.5(SLC16A6):c.265G>A (p.Gly89Arg)	ARSG, SLC16A6 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605276	NM_004694.5(SLC16A6):c.179A>G (p.Asn60Ser)	ARSG, SLC16A6 (N60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163119	NM_004694.5(SLC16A6):c.164G>C (p.Ser55Thr)	ARSG, SLC16A6 (S55T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269663	NM_004694.5(SLC16A6):c.85G>A (p.Val29Ile)	ARSG, SLC16A6 (V29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403220	NM_004694.5(SLC16A6):c.38A>G (p.Asn13Ser)	ARSG, SLC16A6 (N13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063496	GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3	ABCA10, ABCA6 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1809505	GRCh37/hg19 17q24.2(chr17:66075889-66268460)x1	AMZ2, ARSG +1 more	Copy number loss	not provided	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 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 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 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
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA10, ABCA5 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 47