SLC17A2[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 2617517	NM_001286123.3(SLC17A2):c.1380G>A (p.Thr460=)	SLC17A2 (R411H)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2285417	NM_001286123.3(SLC17A2):c.1361G>A (p.Gly454Asp)	SLC17A2 (G454D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295830	NM_001286123.3(SLC17A2):c.1284T>C (p.Thr428=)	SLC17A2 (L379P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3163172	NM_001286123.3(SLC17A2):c.893C>T (p.Thr298Met)	SLC17A2 (T298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163171	NM_001286123.3(SLC17A2):c.860G>T (p.Trp287Leu)	SLC17A2 (W287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293189	NM_001286123.3(SLC17A2):c.842G>C (p.Gly281Ala)	SLC17A2 (G281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213047	NM_001286123.3(SLC17A2):c.808G>C (p.Val270Leu)	SLC17A2 (V270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213046	NM_001286123.3(SLC17A2):c.740A>G (p.Glu247Gly)	SLC17A2 (E247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396762	NM_001286123.3(SLC17A2):c.731G>A (p.Arg244Lys)	SLC17A2 (R244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408222	NM_001286123.3(SLC17A2):c.552T>G (p.Ile184Met)	SLC17A2 (I184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208400	NM_001286123.3(SLC17A2):c.481G>T (p.Ala161Ser)	SLC17A2 (A161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163170	NM_001286123.3(SLC17A2):c.452G>A (p.Arg151Gln)	SLC17A2 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528339	NM_001286123.3(SLC17A2):c.363G>C (p.Met121Ile)	SLC17A2 (M121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163169	NM_001286123.3(SLC17A2):c.296A>G (p.Asn99Ser)	SLC17A2 (N99S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163168	NM_001286123.3(SLC17A2):c.289T>A (p.Ser97Thr)	SLC17A2 (S97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329085	NM_001286123.3(SLC17A2):c.216A>G (p.Ile72Met)	SLC17A2 (I72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511067	NM_001286123.3(SLC17A2):c.64C>G (p.Leu22Val)	SLC17A2 (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062940	GRCh37/hg19 6p22.2(chr6:25560739-26008260)x3	CARMIL1, H2AC1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 685082	GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4	H1-1, H1-2 +34 more	Copy number gain	not provided	GUncertain significance
Select item 563167	GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3	H1-1, H1-2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 27