Related gene-specific medical variations for Gene (Select 83786) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163777	NM_182556.4(SLC25A45):c.755A>C (p.Gln252Pro)	FRMD8, SLC25A45 (Q252P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163776	NM_182556.4(SLC25A45):c.736A>C (p.Met246Leu)	FRMD8, SLC25A45 (M204L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163774	NM_182556.4(SLC25A45):c.145C>T (p.His49Tyr)	FRMD8, SLC25A45 (H7Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2641953	NM_182556.4(SLC25A45):c.786C>A (p.Val262=)	FRMD8, SLC25A45	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618586	NM_182556.4(SLC25A45):c.341C>A (p.Ala114Asp)	FRMD8, SLC25A45 (A10D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616538	NM_182556.4(SLC25A45):c.482G>A (p.Arg161Gln)	FRMD8, SLC25A45 (R137Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608138	NM_182556.4(SLC25A45):c.170A>G (p.Lys57Arg)	FRMD8, SLC25A45 (K57R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607050	NM_182556.4(SLC25A45):c.682C>T (p.Arg228Trp)	FRMD8, SLC25A45 (R166W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555290	NM_182556.4(SLC25A45):c.720G>C (p.Gln240His)	FRMD8, SLC25A45 (Q198H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545309	NM_182556.4(SLC25A45):c.287C>T (p.Pro96Leu)	FRMD8, SLC25A45 (P54L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512953	NM_182556.4(SLC25A45):c.706C>A (p.Arg236Ser)	FRMD8, SLC25A45 (R174S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512449	NM_182556.4(SLC25A45):c.56T>C (p.Leu19Pro)	FRMD8, SLC25A45 (L19P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2493469	NM_182556.4(SLC25A45):c.143G>A (p.Arg48His)	FRMD8, SLC25A45 (R48H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481733	NM_182556.4(SLC25A45):c.562C>T (p.Leu188Phe)	FRMD8, SLC25A45 (L146F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468918	NM_182556.4(SLC25A45):c.760G>A (p.Gly254Arg)	FRMD8, SLC25A45 (G150R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454568	NM_182556.4(SLC25A45):c.110G>A (p.Arg37Gln)	FRMD8, SLC25A45 (R37Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2402650	NM_182556.4(SLC25A45):c.275G>A (p.Arg92Gln)	FRMD8, SLC25A45 (R92Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394784	NM_182556.4(SLC25A45):c.479C>T (p.Pro160Leu)	FRMD8, SLC25A45 (P118L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385511	NM_182556.4(SLC25A45):c.418C>T (p.Pro140Ser)	FRMD8, SLC25A45 (P36S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365530	NM_182556.4(SLC25A45):c.446A>G (p.His149Arg)	FRMD8, SLC25A45 (H107R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360555	NM_182556.4(SLC25A45):c.814G>A (p.Val272Ile)	FRMD8, SLC25A45 (V272I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359502	NM_182556.4(SLC25A45):c.512C>T (p.Thr171Met)	FRMD8, SLC25A45 (T147M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2341816	NM_182556.4(SLC25A45):c.626G>T (p.Gly209Val)	FRMD8, SLC25A45 (G105V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341547	NM_182556.4(SLC25A45):c.403G>A (p.Ala135Thr)	FRMD8, SLC25A45 (A135T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318639	NM_182556.4(SLC25A45):c.278G>A (p.Arg93Gln)	FRMD8, SLC25A45 (R93Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313128	NM_182556.4(SLC25A45):c.82G>T (p.Val28Leu)	FRMD8, SLC25A45 (V28L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2305226	NM_182556.4(SLC25A45):c.736A>G (p.Met246Val)	FRMD8, SLC25A45 (M142V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226315	NM_182556.4(SLC25A45):c.17T>C (p.Phe6Ser)	FRMD8, LOC112081410 +1 more (F6S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2215335	NM_182556.4(SLC25A45):c.277C>T (p.Arg93Trp)	FRMD8, SLC25A45 (R51W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 29