Related gene-specific medical variations for Gene (Select 80210) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2970430	NM_001352754.2(ARMC9):c.505-17T>C	ARMC9, LOC129935819	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995163	NM_001352754.2(ARMC9):c.2149C>G (p.Pro717Ala)	ARMC9, LOC122861306 (P717A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953254	NM_001352754.2(ARMC9):c.2246A>G (p.Asn749Ser)	ARMC9, LOC122861306 (N749S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948405	NM_001352754.2(ARMC9):c.2207C>A (p.Thr736Asn)	ARMC9, LOC122861306 (T736N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946830	NM_001352754.2(ARMC9):c.2142C>G (p.Ile714Met)	ARMC9, LOC122861306 (I714M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930729	NM_001352754.2(ARMC9):c.505-12T>G	ARMC9, LOC129935819	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902341	NM_001352754.2(ARMC9):c.2173C>T (p.Arg725Cys)	ARMC9, LOC122861306 (R725C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1727003	NM_001352754.2(ARMC9):c.2261+1G>A	ARMC9, LOC122861306	Single nucleotide variant (splice donor variant)	Joubert syndrome 30 +1 more	GConflicting classifications of pathogenicity
Select item 1601906	NM_001352754.2(ARMC9):c.2208C>T (p.Thr736=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508249	NM_001352754.2(ARMC9):c.2132-2A>G	ARMC9, LOC122861306	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1502432	NM_001352754.2(ARMC9):c.2213G>A (p.Arg738His)	ARMC9, LOC122861306 (R738H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497937	NM_001352754.2(ARMC9):c.2160G>A (p.Trp720Ter)	ARMC9, LOC122861306 (W720*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1494027	NM_001352754.2(ARMC9):c.2174G>A (p.Arg725His)	ARMC9, LOC122861306 (R725H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468674	NM_001352754.2(ARMC9):c.2189G>A (p.Arg730His)	ARMC9, LOC122861306 (R730H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462209	NM_001352754.2(ARMC9):c.2232C>T (p.Pro744=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451725	NM_001352754.2(ARMC9):c.2199C>T (p.Pro733=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436833	NM_001352754.2(ARMC9):c.2158T>C (p.Trp720Arg)	ARMC9, LOC122861306 (W720R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415317	NM_001352754.2(ARMC9):c.2210C>T (p.Pro737Leu)	ARMC9, LOC122861306 (P737L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373534	NM_001352754.2(ARMC9):c.2132-14CTC[2]	ARMC9, LOC122861306	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1360789	NM_001352754.2(ARMC9):c.2171G>A (p.Gly724Glu)	ARMC9, LOC122861306 (G724E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355448	NM_001352754.2(ARMC9):c.2188C>T (p.Arg730Cys)	ARMC9, LOC122861306 (R730C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351690	NM_001352754.2(ARMC9):c.2202_2203insA (p.Gly735fs)	ARMC9, LOC122861306 (G735fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1170310	NM_001352754.2(ARMC9):c.2229G>A (p.Ala743=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1168001	NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs)	ARMC9, LOC122861306 (T736fs)	Duplication (frameshift variant)	Joubert syndrome 30 +1 more	GBenign
Select item 1164839	NM_001352754.2(ARMC9):c.2230C>G (p.Pro744Ala)	ARMC9, LOC122861306 (P744A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1164733	NM_001352754.2(ARMC9):c.2199C>G (p.Pro733=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1160757	NM_001352754.2(ARMC9):c.2228C>T (p.Ala743Val)	ARMC9, LOC122861306 (A743V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1128192	NM_001352754.2(ARMC9):c.2142C>T (p.Ile714=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124706	NM_001352754.2(ARMC9):c.2241A>C (p.Pro747=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105192	NM_001352754.2(ARMC9):c.2181A>G (p.Glu727=)	ARMC9, LOC122861306	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103669	NM_001352754.2(ARMC9):c.508T>G (p.Ser170Ala)	ARMC9, LOC129935819 (S170A)	Single nucleotide variant (missense variant +1 more)	ARMC9-related disorder +1 more	GLikely benign
Select item 1084706	NM_001352754.2(ARMC9):c.505-20T>G	ARMC9, LOC129935819	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1067444	NM_001352754.2(ARMC9):c.2132-2A>T	ARMC9, LOC122861306	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1056702	NM_001352754.2(ARMC9):c.2137ATC[3] (p.Ile714dup)	ARMC9, LOC122861306	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1040292	NM_001352754.2(ARMC9):c.2186dup (p.Arg730fs)	ARMC9, LOC122861306 (R730fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1003711	NM_001352754.2(ARMC9):c.2143G>T (p.Ala715Ser)	ARMC9, LOC122861306 (A715S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841045	NM_001352754.2(ARMC9):c.2143G>A (p.Ala715Thr)	ARMC9, LOC122861306 (A715T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834002	NM_025139.4(ARMC9):c.1211_1334del	ARMC9	Deletion	Familial aplasia of the vermis	GLikely pathogenic
Select item 734081	NM_001271466.4(ARMC9):c.2261+10A>C	ARMC9, LOC122861306	Single nucleotide variant	not provided	GLikely benign

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Links from Gene

Items: 39