Related gene-specific medical variations for Gene (Select 9758) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361781	NM_001368397.1(FRMPD4):c.972G>C (p.Glu324Asp)	FRMPD4 (E284D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360071	NM_001368397.1(FRMPD4):c.2303C>T (p.Pro768Leu)	FRMPD4 (P728L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359326	NM_001368397.1(FRMPD4):c.2582G>T (p.Cys861Phe)	FRMPD4 (C821F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068099	NM_001368397.1(FRMPD4):c.3004A>G (p.Met1002Val)	FRMPD4 (M1002V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 3064474	NM_001368397.1(FRMPD4):c.2167A>G (p.Lys723Glu)	FRMPD4 (K683E +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 3064463	NM_001368397.1(FRMPD4):c.3710C>T (p.Ser1237Leu)	FRMPD4 (S1197L +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GLikely benign
Select item 3062585	GRCh37/hg19 Xp22.2(chrX:11962592-12214448)	FRMPD4	Copy number gain	not specified	GUncertain significance
Select item 3062573	GRCh37/hg19 Xp22.2(chrX:12690537-12751085)	FRMPD4	Copy number gain	not specified	GUncertain significance
Select item 3062472	GRCh37/hg19 Xp22.2(chrX:12166195-12694914)	FRMPD4	Copy number gain	not specified	GUncertain significance
Select item 3062128	NM_001368397.1(FRMPD4):c.1071-1G>A	FRMPD4	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 104	GLikely pathogenic
Select item 2689094	NM_001368397.1(FRMPD4):c.2257G>A (p.Glu753Lys)	FRMPD4 (E713K +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2664054	NM_001368397.1(FRMPD4):c.3440G>A (p.Gly1147Glu)	FRMPD4 (G1107E +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2576097	NM_001368397.1(FRMPD4):c.3108del (p.Lys1037fs)	FRMPD4 (K1029fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2576094	NM_001368397.1(FRMPD4):c.2503G>A (p.Glu835Lys)	FRMPD4 (E795K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441585	NM_001368397.1(FRMPD4):c.630G>A (p.Leu210=)	FRMPD4	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441584	NM_001368397.1(FRMPD4):c.3641A>G (p.Gln1214Arg)	FRMPD4 (Q1174R +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441583	NM_001368397.1(FRMPD4):c.3779C>G (p.Pro1260Arg)	FRMPD4 (P1220R +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441582	NM_001368397.1(FRMPD4):c.3505G>A (p.Ala1169Thr)	FRMPD4 (A1129T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441581	NM_001368397.1(FRMPD4):c.2233A>G (p.Thr745Ala)	FRMPD4 (T705A +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441580	NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)	FRMPD4 (R1248Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 2441579	NM_001368397.1(FRMPD4):c.3388G>C (p.Glu1130Gln)	FRMPD4 (E1090Q +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1701762	NM_001368397.1(FRMPD4):c.2882G>A (p.Gly961Glu)	FRMPD4 (G921E +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1700089	NM_001368397.1(FRMPD4):c.3025_3028del (p.Asp1009fs)	FRMPD4 (D1001fs +5 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696566	NM_001368397.1(FRMPD4):c.2161G>A (p.Asp721Asn)	FRMPD4 (D681N +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 104	GUncertain significance
Select item 1676334	NM_014728.3(FRMPD4):c.1553C>G (p.Ser518Cys)	FRMPD4 (S478C +5 more)	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 1319777	NM_001368397.1(FRMPD4):c.3721C>A (p.Pro1241Thr)	FRMPD4 (P1201T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975233	NM_001368397.1(FRMPD4):c.2494G>A (p.Glu832Lys)	FRMPD4 (E792K +5 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign

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Items: 27