Related gene-specific medical variations for Gene (Select 65124) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167679	NM_023016.4(SOWAHC):c.866G>A (p.Cys289Tyr)	RANBP2, SOWAHC (C289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167678	NM_023016.4(SOWAHC):c.1553G>C (p.Arg518Thr)	RANBP2, SOWAHC (R518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167676	NM_023016.4(SOWAHC):c.140A>G (p.Glu47Gly)	RANBP2, SOWAHC (E47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167675	NM_023016.4(SOWAHC):c.1212C>A (p.Ser404Arg)	RANBP2, SOWAHC (S404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167674	NM_023016.4(SOWAHC):c.107A>G (p.Gln36Arg)	RANBP2, SOWAHC (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596982	NM_023016.4(SOWAHC):c.137C>G (p.Pro46Arg)	RANBP2, SOWAHC (P46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596275	NM_023016.4(SOWAHC):c.85G>T (p.Ala29Ser)	RANBP2, SOWAHC (A29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595547	NM_023016.4(SOWAHC):c.152G>A (p.Arg51His)	RANBP2, SOWAHC (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593320	NM_023016.4(SOWAHC):c.845G>A (p.Ser282Asn)	RANBP2, SOWAHC (S282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569913	NM_023016.4(SOWAHC):c.784G>A (p.Val262Met)	RANBP2, SOWAHC (V262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556738	NM_023016.4(SOWAHC):c.41G>T (p.Gly14Val)	RANBP2, SOWAHC (G14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530902	NM_023016.4(SOWAHC):c.1528A>G (p.Lys510Glu)	RANBP2, SOWAHC (K510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519214	NM_023016.4(SOWAHC):c.182A>G (p.Asn61Ser)	RANBP2, SOWAHC (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494465	NM_023016.4(SOWAHC):c.418C>T (p.Pro140Ser)	RANBP2, SOWAHC (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494330	NM_023016.4(SOWAHC):c.535C>T (p.Pro179Ser)	RANBP2, SOWAHC (P179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469254	NM_023016.4(SOWAHC):c.1006G>A (p.Ala336Thr)	RANBP2, SOWAHC (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459306	NM_023016.4(SOWAHC):c.359A>G (p.Asp120Gly)	RANBP2, SOWAHC (D120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459267	NM_023016.4(SOWAHC):c.1313A>G (p.His438Arg)	RANBP2, SOWAHC (H438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404210	NM_023016.4(SOWAHC):c.671G>C (p.Gly224Ala)	RANBP2, SOWAHC (G224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387498	NM_023016.4(SOWAHC):c.371C>G (p.Pro124Arg)	RANBP2, SOWAHC (P124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383415	NM_023016.4(SOWAHC):c.1457C>A (p.Pro486His)	RANBP2, SOWAHC (P486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343966	NM_023016.4(SOWAHC):c.93C>A (p.His31Gln)	RANBP2, SOWAHC (H31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339910	NM_023016.4(SOWAHC):c.154G>A (p.Ala52Thr)	RANBP2, SOWAHC (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323225	NM_023016.4(SOWAHC):c.971T>G (p.Phe324Cys)	RANBP2, SOWAHC (F324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310382	NM_023016.4(SOWAHC):c.1000A>G (p.Ile334Val)	RANBP2, SOWAHC (I334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293274	NM_023016.4(SOWAHC):c.1376A>C (p.Lys459Thr)	RANBP2, SOWAHC (K459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289951	NM_023016.4(SOWAHC):c.547T>C (p.Cys183Arg)	RANBP2, SOWAHC (C183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275142	NM_023016.4(SOWAHC):c.1081G>C (p.Val361Leu)	RANBP2, SOWAHC (V361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260374	NM_023016.4(SOWAHC):c.97G>C (p.Glu33Gln)	RANBP2, SOWAHC (E33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239127	NM_023016.4(SOWAHC):c.680C>G (p.Pro227Arg)	RANBP2, SOWAHC (P227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229217	NM_023016.4(SOWAHC):c.320A>C (p.Asp107Ala)	RANBP2, SOWAHC (D107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226432	NM_023016.4(SOWAHC):c.127G>A (p.Gly43Ser)	RANBP2, SOWAHC (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209887	NM_023016.4(SOWAHC):c.689C>T (p.Ser230Phe)	RANBP2, SOWAHC (S230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 33