ClinVar for MedGen (Select 324839) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3780942	NM_005094.4(SLC27A4):c.-7+1G>T	SLC27A4, LOC130002705	Single nucleotide variant (splice donor variant)	Ichthyosis prematurity syndrome	GUncertain significance
Select item 3596465	NM_005094.4(SLC27A4):c.1579dup (p.Arg527fs)	SLC27A4 (R527fs)	Duplication (frameshift variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 3596464	NM_005094.4(SLC27A4):c.898C>T (p.Gln300Ter)	SLC27A4 (Q300*)	Single nucleotide variant (nonsense)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 3596463	NM_005094.4(SLC27A4):c.786-2A>G	SLC27A4	Single nucleotide variant (splice acceptor variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 3596462	NM_005094.4(SLC27A4):c.199C>T (p.Arg67Ter)	SLC27A4 (R67*)	Single nucleotide variant (nonsense)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 3596461	NM_005094.4(SLC27A4):c.28dup (p.Val10fs)	SLC27A4 (V10fs)	Duplication (frameshift variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 3338631	NM_005094.4(SLC27A4):c.1645G>A (p.Gly549Arg)	SLC27A4 (G549R)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GUncertain significance
Select item 3319370	NM_005094.4(SLC27A4):c.1259G>A (p.Arg420His)	SLC27A4 (R420H)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome +1 more	GUncertain significance
Select item 3254621	NM_005094.4(SLC27A4):c.871_877+19del	SLC27A4	Deletion (splice donor variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 3062255	NM_005094.4(SLC27A4):c.839A>T (p.Asp280Val)	SLC27A4 (D280V)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 2750485	NM_005094.4(SLC27A4):c.1628-1G>A	SLC27A4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 2735354	NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)	SLC27A4 (M1V)	Single nucleotide variant (missense variant +1 more)	Ichthyosis prematurity syndrome +1 more	GPathogenic
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 2436009	NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys)	SLC27A4 (R504C)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2436008	NM_005094.4(SLC27A4):c.868C>T (p.His290Tyr)	SLC27A4 (H290Y)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GUncertain significance
Select item 2385751	NM_005094.4(SLC27A4):c.1413G>C (p.Lys471Asn)	SLC27A4 (K471N)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome +1 more	GUncertain significance
Select item 2052115	NM_005094.4(SLC27A4):c.1430T>A (p.Val477Asp)	SLC27A4 (V477D)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome +1 more	GLikely pathogenic
Select item 1686197	NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)	SLC27A4 (R356fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1368194	NM_005094.4(SLC27A4):c.986C>T (p.Thr329Met)	SLC27A4 (T329M)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1171023	NM_005094.4(SLC27A4):c.988-19A>G	SLC27A4	Single nucleotide variant (intron variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 1171022	NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)	SLC27A4 (G442fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1171021	NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)	SLC27A4	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 1171020	NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)	SLC27A4	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 978727	NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu)	SLC27A4 (R504L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 810428	NM_005094.4(SLC27A4):c.1447C>T (p.Gln483Ter)	SLC27A4 (Q483*)	Single nucleotide variant (nonsense)	Ichthyosis prematurity syndrome +1 more	GPathogenic/Likely pathogenic
Select item 802517	NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)	SLC27A4 (E600fs)	Microsatellite (frameshift variant)	Ichthyosis prematurity syndrome	GPathogenic/Likely pathogenic
Select item 802516	NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met)	SLC27A4 (T508M)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 684535	NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser)	SLC27A4 (N351S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 156253	NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)	SLC27A4 (R502*)	Single nucleotide variant (nonsense)	Ichthyosis prematurity syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5748	NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)	SLC27A4 (R583H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5747	NM_005094.4(SLC27A4):c.988-2A>G	SLC27A4	Single nucleotide variant (splice acceptor variant)	Ichthyosis prematurity syndrome	GPathogenic
Select item 5746	NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)	SLC27A4 (Q300R)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5745	NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro)	SLC27A4 (S247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 5743	NM_005094.4(SLC27A4):c.716-1G>A	SLC27A4	Single nucleotide variant (splice acceptor variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 5742	NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)	SLC27A4 (C168*)	Single nucleotide variant (nonsense)	Ichthyosis prematurity syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 36