SLC38A2[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 2320236	NM_018976.5(SLC38A2):c.1375A>G (p.Ile459Val)	SLC38A2 (I459V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228795	NM_018976.5(SLC38A2):c.1342A>G (p.Met448Val)	SLC38A2 (M448V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285966	NM_018976.5(SLC38A2):c.1034T>C (p.Phe345Ser)	SLC38A2 (F345S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164567	NM_018976.5(SLC38A2):c.925G>A (p.Val309Ile)	SLC38A2 (V309I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593130	NM_018976.5(SLC38A2):c.833A>G (p.Asn278Ser)	SLC38A2 (N278S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382670	NM_018976.5(SLC38A2):c.817C>T (p.His273Tyr)	SLC38A2 (H173Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228180	NM_018976.5(SLC38A2):c.794C>T (p.Thr265Ile)	SLC38A2 (T165I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483053	NM_018976.5(SLC38A2):c.784A>T (p.Thr262Ser)	SLC38A2 (T162S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715519	NM_018976.5(SLC38A2):c.591G>A (p.Leu197=)	SLC38A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164565	NM_018976.5(SLC38A2):c.516G>C (p.Glu172Asp)	SLC38A2 (E172D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283260	NM_018976.5(SLC38A2):c.502A>G (p.Ile168Val)	SLC38A2 (I68V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791632	NM_018976.5(SLC38A2):c.474C>T (p.Asn158=)	SLC38A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2387195	NM_018976.5(SLC38A2):c.380A>G (p.Asn127Ser)	SLC38A2 (N27S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164564	NM_018976.5(SLC38A2):c.379A>G (p.Asn127Asp)	SLC38A2 (N27D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530096	NM_018976.5(SLC38A2):c.223A>C (p.Met75Leu)	SLC38A2 (M75L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512005	NM_018976.5(SLC38A2):c.195A>C (p.Glu65Asp)	SLC38A2 (E65D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204957	NM_018976.5(SLC38A2):c.91C>T (p.Pro31Ser)	SLC38A2 (P31S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164566	NM_018976.5(SLC38A2):c.68A>G (p.Asn23Ser)	SLC38A2 (N23S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340193	NM_018976.5(SLC38A2):c.46G>A (p.Asp16Asn)	SLC38A2 (D16N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 221488	GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)x3	SCAF11, SLC38A1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 31