Related gene-specific medical variations for Gene (Select 389690) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205775	NM_207414.3(MROH5):c.3655C>T (p.Arg1219Cys)	LOC107983985, MROH5 (R1219C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3205765	NM_207414.3(MROH5):c.3485G>A (p.Arg1162Gln)	LOC107983985, MROH5 (R1162Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3205742	NM_207414.3(MROH5):c.3383G>A (p.Arg1128His)	LOC107983985, MROH5 (R1128H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205735	NM_207414.3(MROH5):c.3364G>C (p.Gly1122Arg)	LOC107983985, MROH5 (G1122R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205724	NM_207414.3(MROH5):c.3316G>C (p.Asp1106His)	LOC107983985, MROH5 (D1106H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205718	NM_207414.3(MROH5):c.3308C>T (p.Thr1103Ile)	LOC107983985, MROH5 (T1103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205704	NM_207414.3(MROH5):c.3263G>T (p.Gly1088Val)	LOC107983985, MROH5 (G1088V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684557	GRCh37/hg19 8q24.3(chr8:142452829-142859811)x3	MROH5	Copy number gain	not provided	GUncertain significance
Select item 2537999	NM_207414.3(MROH5):c.3455C>A (p.Ala1152Asp)	LOC107983985, MROH5 (A1152D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536755	NM_207414.3(MROH5):c.3419C>T (p.Ala1140Val)	LOC107983985, MROH5 (A1140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510657	NM_207414.3(MROH5):c.3443A>T (p.Asp1148Val)	LOC107983985, MROH5 (D1148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476279	NM_207414.3(MROH5):c.3329G>A (p.Arg1110His)	LOC107983985, MROH5 (R1110H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462774	NM_207414.3(MROH5):c.3577C>T (p.Arg1193Cys)	LOC107983985, MROH5 (R1193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399069	NM_207414.3(MROH5):c.3602G>A (p.Arg1201Gln)	LOC107983985, MROH5 (R1201Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385780	NM_207414.3(MROH5):c.3361C>T (p.Leu1121Phe)	LOC107983985, MROH5 (L1121F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379818	NM_207414.3(MROH5):c.3367G>A (p.Val1123Ile)	LOC107983985, MROH5 (V1123I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379172	NM_207414.3(MROH5):c.3415C>T (p.Arg1139Trp)	LOC107983985, MROH5 (R1139W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365047	NM_207414.3(MROH5):c.3409G>A (p.Gly1137Arg)	LOC107983985, MROH5 (G1137R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2346321	NM_207414.3(MROH5):c.3526C>A (p.Leu1176Met)	LOC107983985, MROH5 (L1176M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344708	NM_207414.3(MROH5):c.3303G>A (p.Met1101Ile)	LOC107983985, MROH5 (M1101I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337034	NM_207414.3(MROH5):c.3239G>A (p.Gly1080Glu)	LOC107983985, MROH5 (G1080E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331152	NM_207414.3(MROH5):c.3293T>A (p.Val1098Glu)	LOC107983985, MROH5 (V1098E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291184	NM_207414.3(MROH5):c.3457A>G (p.Met1153Val)	LOC107983985, MROH5 (M1153V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221941	NM_207414.3(MROH5):c.3595C>T (p.Arg1199Cys)	LOC107983985, MROH5 (R1199C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 24