ClinVar for Gene (Select 55089) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319712	NM_018018.5(SLC38A4):c.1620T>A (p.Asp540Glu)	SLC38A4 (D540E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319711	NM_018018.5(SLC38A4):c.887G>A (p.Gly296Glu)	SLC38A4 (G296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319710	NM_018018.5(SLC38A4):c.988T>C (p.Ser330Pro)	SLC38A4 (S330P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319708	NM_018018.5(SLC38A4):c.1589T>C (p.Met530Thr)	SLC38A4 (M530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164584	NM_018018.5(SLC38A4):c.955G>A (p.Asp319Asn)	SLC38A4 (D319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164583	NM_018018.5(SLC38A4):c.209A>T (p.His70Leu)	SLC38A4 (H70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164582	NM_018018.5(SLC38A4):c.1396G>A (p.Val466Ile)	SLC38A4 (V466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164581	NM_018018.5(SLC38A4):c.1340C>G (p.Pro447Arg)	SLC38A4 (P447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164580	NM_018018.5(SLC38A4):c.1240A>G (p.Met414Val)	SLC38A4 (M414V)	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 2920941	NM_018018.5(SLC38A4):c.26T>C (p.Val9Ala)	SLC38A4 (V9A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530314	NM_018018.5(SLC38A4):c.70C>T (p.Pro24Ser)	SLC38A4 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470960	NM_018018.5(SLC38A4):c.923A>G (p.Asp308Gly)	SLC38A4 (D308G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458686	NM_018018.5(SLC38A4):c.1082G>A (p.Arg361Gln)	SLC38A4 (R361Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379894	NM_018018.5(SLC38A4):c.466G>T (p.Val156Phe)	SLC38A4 (V156F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361771	NM_018018.5(SLC38A4):c.832T>G (p.Ser278Ala)	SLC38A4 (S278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349937	NM_018018.5(SLC38A4):c.164A>G (p.Asn55Ser)	SLC38A4 (N55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320500	NM_018018.5(SLC38A4):c.1315A>C (p.Ile439Leu)	SLC38A4 (I439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299113	NM_018018.5(SLC38A4):c.1099G>A (p.Val367Met)	SLC38A4 (V367M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285341	NM_018018.5(SLC38A4):c.1183G>A (p.Glu395Lys)	SLC38A4 (E395K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264690	NM_018018.5(SLC38A4):c.153A>T (p.Lys51Asn)	SLC38A4 (K51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251951	NM_018018.5(SLC38A4):c.845A>T (p.Asp282Val)	SLC38A4 (D282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221581	NM_018018.5(SLC38A4):c.1523G>C (p.Arg508Thr)	SLC38A4 (R508T)	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 768539	NM_018018.5(SLC38A4):c.216C>T (p.Pro72=)	SLC38A4	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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 33