SLC17A7[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2650241	NM_020309.4(SLC17A7):c.1673G>A (p.Arg558Gln)	SLC17A7 (R558Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2227382	NM_020309.4(SLC17A7):c.1660C>T (p.Pro554Ser)	SLC17A7 (P554S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808618	NM_020309.4(SLC17A7):c.1648C>T (p.Pro550Ser)	SLC17A7 (P550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2214828	NM_020309.4(SLC17A7):c.1627G>A (p.Ala543Thr)	SLC17A7 (A543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741533	NM_020309.4(SLC17A7):c.1611C>A (p.Pro537=)	SLC17A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374959	NM_020309.4(SLC17A7):c.1604C>G (p.Pro535Arg)	SLC17A7 (P535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352630	NM_020309.4(SLC17A7):c.1591C>T (p.Pro531Ser)	SLC17A7 (P531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318987	NM_020309.4(SLC17A7):c.1564A>G (p.Ser522Gly)	SLC17A7 (S522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302337	NM_020309.4(SLC17A7):c.1534G>A (p.Gly512Ser)	SLC17A7 (G512S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163204	NM_020309.4(SLC17A7):c.1513G>A (p.Glu505Lys)	SLC17A7 (E505K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727740	NM_020309.4(SLC17A7):c.1512C>T (p.Ser504=)	SLC17A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271555	NM_020309.4(SLC17A7):c.1477G>A (p.Glu493Lys)	SLC17A7 (E493K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329703	NM_020309.4(SLC17A7):c.1204G>A (p.Gly402Ser)	LOC125384522, SLC17A7 (G402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257286	NM_020309.4(SLC17A7):c.1160T>C (p.Met387Thr)	LOC125384522, SLC17A7 (M387T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163203	NM_020309.4(SLC17A7):c.1067C>A (p.Pro356His)	SLC17A7 (P356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650242	NM_020309.4(SLC17A7):c.912C>G (p.Val304=)	SLC17A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738168	NM_020309.4(SLC17A7):c.867+10C>A	SLC17A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2328812	NM_020309.4(SLC17A7):c.776C>G (p.Ser259Cys)	SLC17A7 (S259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383269	NM_020309.4(SLC17A7):c.763G>A (p.Val255Ile)	SLC17A7 (V255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406302	NM_020309.4(SLC17A7):c.728G>A (p.Ser243Asn)	SLC17A7 (S243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722306	NM_020309.4(SLC17A7):c.638-7C>T	SLC17A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2531132	NM_020309.4(SLC17A7):c.626C>T (p.Thr209Ile)	SLC17A7 (T209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318989	NM_020309.4(SLC17A7):c.560A>C (p.Tyr187Ser)	SLC17A7 (Y187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730241	NM_020309.4(SLC17A7):c.399A>G (p.Pro133=)	SLC17A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2359396	NM_020309.4(SLC17A7):c.199A>G (p.Ile67Val)	SLC17A7 (I67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714893	NM_020309.4(SLC17A7):c.140G>A (p.Arg47Gln)	SLC17A7 (R47Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3318988	NM_020309.4(SLC17A7):c.26G>A (p.Arg9Gln)	SLC17A7 (R9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 40