ClinVar for Gene (Select 81539) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319696	NM_030674.4(SLC38A1):c.739G>T (p.Val247Phe)	SLC38A1 (V247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164538	NM_030674.4(SLC38A1):c.8A>C (p.His3Pro)	SLC38A1 (H3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164537	NM_030674.4(SLC38A1):c.1456G>A (p.Gly486Ser)	SLC38A1 (G486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164536	NM_030674.4(SLC38A1):c.1453G>A (p.Glu485Lys)	SLC38A1 (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164535	NM_030674.4(SLC38A1):c.1085T>C (p.Val362Ala)	SLC38A1 (V362A)	Single nucleotide variant (missense variant)	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 2620183	NM_030674.4(SLC38A1):c.419A>C (p.Gln140Pro)	SLC38A1 (Q140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616145	NM_030674.4(SLC38A1):c.1348A>G (p.Thr450Ala)	SLC38A1 (T450A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549320	NM_030674.4(SLC38A1):c.139C>T (p.Arg47Cys)	SLC38A1 (R47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510584	NM_030674.4(SLC38A1):c.220G>A (p.Gly74Ser)	SLC38A1 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410488	NM_030674.4(SLC38A1):c.445G>A (p.Val149Ile)	SLC38A1 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398396	NM_030674.4(SLC38A1):c.905G>A (p.Arg302Gln)	SLC38A1 (R302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392207	NM_030674.4(SLC38A1):c.1303T>G (p.Ser435Ala)	SLC38A1 (S435A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296315	NM_030674.4(SLC38A1):c.583C>T (p.Arg195Cys)	SLC38A1 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296067	NM_030674.4(SLC38A1):c.565G>A (p.Ala189Thr)	SLC38A1 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222271	NM_030674.4(SLC38A1):c.794C>T (p.Thr265Met)	SLC38A1 (T265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 733611	NM_030674.4(SLC38A1):c.624T>G (p.Pro208=)	SLC38A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +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
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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

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Links from Gene

Items: 28