18044[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2204958	NM_006841.6(SLC38A3):c.7G>A (p.Ala3Thr)	SLC38A3 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164571	NM_006841.6(SLC38A3):c.118C>T (p.Arg40Trp)	SLC38A3 (R40W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444165	NM_006841.6(SLC38A3):c.187G>T (p.Glu63Ter)	SLC38A3 (E63*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 102	GPathogenic
Select item 3164574	NM_006841.6(SLC38A3):c.209T>C (p.Met70Thr)	SLC38A3 (M70T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164575	NM_006841.6(SLC38A3):c.374G>A (p.Gly125Asp)	SLC38A3 (G125D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164576	NM_006841.6(SLC38A3):c.404G>A (p.Arg135His)	SLC38A3 (R135H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164577	NM_006841.6(SLC38A3):c.410T>C (p.Phe137Ser)	SLC38A3 (F137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319707	NM_006841.6(SLC38A3):c.445A>G (p.Ile149Val)	SLC38A3 (I149V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554625	NM_006841.6(SLC38A3):c.535G>A (p.Glu179Lys)	SLC38A3 (E179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164578	NM_006841.6(SLC38A3):c.652G>A (p.Gly218Ser)	SLC38A3 (G218S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599592	NM_006841.6(SLC38A3):c.686T>C (p.Ile229Thr)	SLC38A3 (I229T)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 2454517	NM_006841.6(SLC38A3):c.712G>A (p.Val238Met)	SLC38A3 (V238M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329508	NM_006841.6(SLC38A3):c.740A>G (p.Asn247Ser)	SLC38A3 (N247S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314427	NM_006841.6(SLC38A3):c.775G>C (p.Val259Leu)	SLC38A3 (V259L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373902	NM_006841.6(SLC38A3):c.802G>A (p.Glu268Lys)	SLC38A3 (E268K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355520	NM_006841.6(SLC38A3):c.842C>T (p.Thr281Met)	SLC38A3 (T281M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687050	NM_006841.6(SLC38A3):c.855+1G>T	SLC38A3	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy 102	GPathogenic
Select item 2282489	NM_006841.6(SLC38A3):c.901C>T (p.Pro301Ser)	SLC38A3 (P301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164579	NM_006841.6(SLC38A3):c.991A>C (p.Ile331Leu)	SLC38A3 (I331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687051	NM_006841.6(SLC38A3):c.1049C>A (p.Ser350Ter)	SLC38A3 (S350*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 102	GPathogenic
Select item 2545764	NM_006841.6(SLC38A3):c.1079A>C (p.Asp360Ala)	SLC38A3 (D360A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164568	NM_006841.6(SLC38A3):c.1086T>A (p.Phe362Leu)	SLC38A3 (F362L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599591	NM_006841.6(SLC38A3):c.1108C>A (p.Arg370Ser)	SLC38A3 (R370S)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 3164569	NM_006841.6(SLC38A3):c.1111G>A (p.Val371Met)	SLC38A3 (V371M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164570	NM_006841.6(SLC38A3):c.1117G>T (p.Val373Leu)	SLC38A3 (V373L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687052	NM_006841.6(SLC38A3):c.1119del (p.Val373_Leu374insTer)	SLC38A3	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 102	GPathogenic
Select item 2370054	NM_006841.6(SLC38A3):c.1120C>G (p.Leu374Val)	SLC38A3 (L374V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687053	NM_006841.6(SLC38A3):c.1123A>C (p.Thr375Pro)	SLC38A3 (T375P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 102	GPathogenic
Select item 3164572	NM_006841.6(SLC38A3):c.1210T>G (p.Trp404Gly)	SLC38A3 (W404G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321101	NM_006841.6(SLC38A3):c.1212G>A (p.Trp404Ter)	SLC38A3 (W404*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 599593	NM_006841.6(SLC38A3):c.1441C>A (p.Leu481Met)	SLC38A3 (L481M)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 3164573	NM_006841.6(SLC38A3):c.1468A>G (p.Ile490Val)	SLC38A3 (I490V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348015	NM_006841.6(SLC38A3):c.1472T>C (p.Ile491Thr)	SLC38A3 (I491T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213152	NM_006841.6(SLC38A3):c.1496G>A (p.Arg499Gln)	SLC38A3 (R499Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2529162	NM_006841.6(SLC38A3):c.1508A>G (p.Asn503Ser)	SLC38A3 (N503S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 1056363	NC_000003.11:g.(?_50154507)_(50295122_?)dup	GNAI2, GNAT1 +4 more	Duplication	not provided	GUncertain significance
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 45