SLC38A9[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 2469414	NM_173514.4(SLC38A9):c.1654G>A (p.Val552Met)	SLC38A9 (V428M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269382	NM_173514.4(SLC38A9):c.1639A>G (p.Ile547Val)	SLC38A9 (I547V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229245	NM_173514.4(SLC38A9):c.1633G>A (p.Val545Ile)	SLC38A9 (V482I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164613	NM_173514.4(SLC38A9):c.1579A>G (p.Ile527Val)	SLC38A9 (I464V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164612	NM_173514.4(SLC38A9):c.1420A>G (p.Ile474Val)	SLC38A9 (I411V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3164611	NM_173514.4(SLC38A9):c.1414G>A (p.Gly472Ser)	SLC38A9 (G409S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164610	NM_173514.4(SLC38A9):c.1402G>A (p.Gly468Ser)	SLC38A9 (G468S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164609	NM_173514.4(SLC38A9):c.1387C>T (p.Arg463Cys)	SLC38A9 (R400C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374006	NM_173514.4(SLC38A9):c.1318T>C (p.Ser440Pro)	SLC38A9 (S440P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164607	NM_173514.4(SLC38A9):c.1208C>T (p.Thr403Ile)	SLC38A9 (T279I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164606	NM_173514.4(SLC38A9):c.1193T>G (p.Met398Arg)	SLC38A9 (M335R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319730	NM_173514.4(SLC38A9):c.1151A>G (p.Lys384Arg)	SLC38A9 (K321R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731355	NM_173514.4(SLC38A9):c.1087A>T (p.Thr363Ser)	SLC38A9 (T298S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3164605	NM_173514.4(SLC38A9):c.1045G>A (p.Glu349Lys)	SLC38A9 (E349K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319731	NM_173514.4(SLC38A9):c.1009G>A (p.Gly337Arg)	SLC38A9 (G272R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164620	NM_173514.4(SLC38A9):c.863C>G (p.Ser288Cys)	SLC38A9 (S261C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164619	NM_173514.4(SLC38A9):c.770G>C (p.Ser257Thr)	SLC38A9 (S133T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234623	NM_173514.4(SLC38A9):c.740C>T (p.Thr247Ile)	SLC38A9 (T123I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164618	NM_173514.4(SLC38A9):c.732A>G (p.Ile244Met)	SLC38A9 (I217M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164617	NM_173514.4(SLC38A9):c.641T>C (p.Ile214Thr)	SLC38A9 (I90T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319728	NM_173514.4(SLC38A9):c.629T>C (p.Ile210Thr)	SLC38A9 (I210T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164616	NM_173514.4(SLC38A9):c.514C>T (p.Arg172Trp)	SLC38A9 (R48W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287877	NM_173514.4(SLC38A9):c.487T>C (p.Tyr163His)	SLC38A9 (Y136H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246089	NM_173514.4(SLC38A9):c.452T>C (p.Met151Thr)	SLC38A9 (M124T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297820	NM_173514.4(SLC38A9):c.407T>C (p.Leu136Pro)	SLC38A9 (L136P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297301	NM_173514.4(SLC38A9):c.360A>T (p.Leu120Phe)	SLC38A9 (L57F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395201	NM_173514.4(SLC38A9):c.343G>A (p.Gly115Ser)	SLC38A9 (G88S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164614	NM_173514.4(SLC38A9):c.218G>A (p.Arg73Gln)	SLC38A9 (R73Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164608	NM_173514.4(SLC38A9):c.136A>G (p.Asn46Asp)	SLC38A9 (N19D +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2681556	NM_173514.4(SLC38A9):c.113+6656C>T	SLC38A9 (R11W)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2396799	NM_173514.4(SLC38A9):c.26G>A (p.Arg9Lys)	SLC38A9 (R9K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 686769	GRCh37/hg19 5q11.2(chr5:54527018-55436536)x3	ANKRD55, CCNO +7 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 444853	GRCh37/hg19 5q11.2(chr5:54635880-55019572)x3	MTREX, PLPP1 +1 more	Copy number gain	not provided	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 46