SLC27A4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 1696265	NM_005094.4(SLC27A4):c.-6-2A>G	SLC27A4	Single nucleotide variant (splice acceptor variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 2735354	NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)	SLC27A4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 156250	NM_005094.4(SLC27A4):c.13G>T (p.Ala5Ser)	SLC27A4 (A5S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2795544	NM_005094.4(SLC27A4):c.21G>T (p.Leu7=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795966	NM_005094.4(SLC27A4):c.28del (p.Val10fs)	SLC27A4 (V10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2697927	NM_005094.4(SLC27A4):c.27G>A (p.Gly9=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163983	NM_005094.4(SLC27A4):c.28G>T (p.Val10Leu)	SLC27A4 (V10L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2996663	NM_005094.4(SLC27A4):c.36G>C (p.Leu12=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485135	NM_005094.4(SLC27A4):c.44A>G (p.Lys15Arg)	SLC27A4 (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906358	NM_005094.4(SLC27A4):c.46C>T (p.Leu16=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991601	NM_005094.4(SLC27A4):c.63C>T (p.Pro21=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2408720	NM_005094.4(SLC27A4):c.71A>G (p.Gln24Arg)	SLC27A4 (Q24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2703167	NM_005094.4(SLC27A4):c.81C>T (p.Phe27=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877756	NM_005094.4(SLC27A4):c.99C>T (p.Tyr33=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598199	NM_005094.4(SLC27A4):c.110G>C (p.Gly37Ala)	SLC27A4 (G37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3010276	NM_005094.4(SLC27A4):c.111C>T (p.Gly37=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019091	NM_005094.4(SLC27A4):c.114C>T (p.Gly38=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369529	NM_005094.4(SLC27A4):c.118C>T (p.Arg40Cys)	SLC27A4 (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163971	NM_005094.4(SLC27A4):c.128G>A (p.Arg43Gln)	SLC27A4 (R43Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2960058	NM_005094.4(SLC27A4):c.144C>T (p.Thr48=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190005	NM_005094.4(SLC27A4):c.152G>A (p.Arg51His)	SLC27A4 (R51H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692788	NM_005094.4(SLC27A4):c.153C>T (p.Arg51=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797640	NM_005094.4(SLC27A4):c.159C>T (p.Ile53=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002235	NM_005094.4(SLC27A4):c.161+14C>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783816	NM_005094.4(SLC27A4):c.161+15C>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986876	NM_005094.4(SLC27A4):c.161+17G>C	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956604	NM_005094.4(SLC27A4):c.161+17G>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2986556	NM_005094.4(SLC27A4):c.161+18C>G	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704514	NM_005094.4(SLC27A4):c.162-19CT[2]	SLC27A4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3002747	NM_005094.4(SLC27A4):c.162-13T>C	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833326	NM_005094.4(SLC27A4):c.162-8A>G	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000730	NM_005094.4(SLC27A4):c.162-7C>T	SLC27A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023735	NM_005094.4(SLC27A4):c.165C>T (p.Gly55=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838541	NM_005094.4(SLC27A4):c.165C>G (p.Gly55=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585313	NM_005094.4(SLC27A4):c.166G>A (p.Gly56Ser)	SLC27A4 (G56S)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GUncertain significance
Select item 738739	NM_005094.4(SLC27A4):c.167G>T (p.Gly56Val)	SLC27A4 (G56V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2882533	NM_005094.4(SLC27A4):c.168C>T (p.Gly56=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2879485	NM_005094.4(SLC27A4):c.189G>A (p.Lys63=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817368	NM_005094.4(SLC27A4):c.204G>A (p.Gln68=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811801	NM_005094.4(SLC27A4):c.219G>A (p.Arg73=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959102	NM_005094.4(SLC27A4):c.225A>G (p.Thr75=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969376	NM_005094.4(SLC27A4):c.228G>T (p.Val76=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881825	NM_005094.4(SLC27A4):c.240T>C (p.Phe80=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019379	NM_005094.4(SLC27A4):c.249C>T (p.Thr83=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788654	NM_005094.4(SLC27A4):c.249C>G (p.Thr83=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156258	NM_005094.4(SLC27A4):c.250G>A (p.Val84Ile)	SLC27A4 (V84I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2061118	NM_005094.4(SLC27A4):c.253C>T (p.Arg85Trp)	SLC27A4 (R85W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480358	NM_005094.4(SLC27A4):c.257G>A (p.Arg86His)	SLC27A4 (R86H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984877	NM_005094.4(SLC27A4):c.261C>T (p.His87=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163980	NM_005094.4(SLC27A4):c.265G>A (p.Asp89Asn)	SLC27A4 (D89N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2890727	NM_005094.4(SLC27A4):c.273G>A (p.Thr91=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5744	NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)	SLC27A4 (A92T)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 2970199	NM_005094.4(SLC27A4):c.285C>T (p.Phe95=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008242	NM_005094.4(SLC27A4):c.288G>A (p.Glu96=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733795	NM_005094.4(SLC27A4):c.297T>C (p.Asp99=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371615	NM_005094.4(SLC27A4):c.313C>T (p.Arg105Cys)	SLC27A4 (R105C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696264	NM_005094.4(SLC27A4):c.314G>A (p.Arg105His)	SLC27A4 (R105H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3008400	NM_005094.4(SLC27A4):c.315C>A (p.Arg105=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789502	NM_005094.4(SLC27A4):c.319C>T (p.Leu107=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786803	NM_005094.4(SLC27A4):c.321G>C (p.Leu107=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793143	NM_005094.4(SLC27A4):c.327G>A (p.Glu109=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875211	NM_005094.4(SLC27A4):c.330C>T (p.Tyr110=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005954	NM_005094.4(SLC27A4):c.339T>C (p.Ser113=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156259	NM_005094.4(SLC27A4):c.352C>T (p.Leu118=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1919132	NM_005094.4(SLC27A4):c.356A>T (p.Gln119Leu)	SLC27A4 (Q119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612145	NM_005094.4(SLC27A4):c.362G>A (p.Arg121Gln)	SLC27A4 (R121Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2753349	NM_005094.4(SLC27A4):c.366C>T (p.Gly122=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758534	NM_005094.4(SLC27A4):c.372C>T (p.Ala124=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889575	NM_005094.4(SLC27A4):c.375G>A (p.Ser125=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870489	NM_005094.4(SLC27A4):c.375G>C (p.Ser125=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899166	NM_005094.4(SLC27A4):c.378C>T (p.Gly126=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819163	NM_005094.4(SLC27A4):c.381T>C (p.Asp127=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873114	NM_005094.4(SLC27A4):c.390C>T (p.Ala130=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298012	NM_005094.4(SLC27A4):c.397A>C (p.Met133Leu)	SLC27A4 (M133L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059377	NM_005094.4(SLC27A4):c.407G>A (p.Arg136His)	SLC27A4 (R136H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728228	NM_005094.4(SLC27A4):c.411T>C (p.Asn137=)	SLC27A4	Single nucleotide variant (synonymous variant)	SLC27A4-related disorder +1 more	GBenign/Likely benign
Select item 2334498	NM_005094.4(SLC27A4):c.414G>C (p.Glu138Asp)	SLC27A4 (E138D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699802	NM_005094.4(SLC27A4):c.415T>G (p.Phe139Val)	SLC27A4 (F139V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758263	NM_005094.4(SLC27A4):c.417C>T (p.Phe139=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776815	NM_005094.4(SLC27A4):c.426A>G (p.Leu142=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906436	NM_005094.4(SLC27A4):c.432G>A (p.Leu144=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888924	NM_005094.4(SLC27A4):c.447C>T (p.Leu149=)	SLC27A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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