ARMC9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 636278	NM_001352754.2(ARMC9):c.-41-2521_177+2986del	ARMC9	Deletion (splice acceptor variant +2 more)	Joubert syndrome 30	GUncertain significance
Select item 1226717	NM_001352754.2(ARMC9):c.-41-5T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727719	NM_001352754.2(ARMC9):c.10A>G (p.Ile4Val)	ARMC9 (I4V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1962484	NM_001352754.2(ARMC9):c.13C>A (p.Leu5Met)	ARMC9 (L5M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 967189	NM_001352754.2(ARMC9):c.13C>G (p.Leu5Val)	ARMC9 (L5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2105406	NM_001352754.2(ARMC9):c.16G>C (p.Ala6Pro)	ARMC9 (A6P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949383	NM_001352754.2(ARMC9):c.19C>T (p.His7Tyr)	ARMC9 (H7Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700532	NM_001352754.2(ARMC9):c.25T>C (p.Ser9Pro)	ARMC9 (S9P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716787	NM_001352754.2(ARMC9):c.35T>C (p.Leu12Pro)	ARMC9 (L12P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 427931	NM_001352754.2(ARMC9):c.51+5G>T	ARMC9	Single nucleotide variant (intron variant)	Joubert syndrome 30	GConflicting classifications of pathogenicity
Select item 1905042	NM_001352754.2(ARMC9):c.51+8T>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1912626	NM_001352754.2(ARMC9):c.51+15C>G	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1899300	NM_001352754.2(ARMC9):c.51+20C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168970	NM_001352754.2(ARMC9):c.52-18A>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2007025	NM_001352754.2(ARMC9):c.52-11_52-8del	ARMC9	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1606945	NM_001352754.2(ARMC9):c.52-11A>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013108	NM_001352754.2(ARMC9):c.75A>G (p.Glu25=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2241680	NM_001352754.2(ARMC9):c.76G>C (p.Asp26His)	ARMC9 (D26H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1034090	NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter)	ARMC9 (E34*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 30	GPathogenic
Select item 1410572	NM_001352754.2(ARMC9):c.110T>C (p.Ile37Thr)	ARMC9 (I37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167998	NM_001352754.2(ARMC9):c.124T>C (p.Leu42=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1473481	NM_001352754.2(ARMC9):c.137T>G (p.Val46Gly)	ARMC9 (V46G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1170309	NM_001352754.2(ARMC9):c.141C>T (p.Gly47=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2863242	NM_001352754.2(ARMC9):c.142G>A (p.Gly48Arg)	ARMC9 (G48R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2099512	NM_001352754.2(ARMC9):c.154G>A (p.Asp52Asn)	ARMC9 (D52N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3352322	NM_001352754.2(ARMC9):c.158C>T (p.Ser53Phe)	ARMC9 (S53F)	Single nucleotide variant (missense variant +1 more)	ARMC9-related disorder	GUncertain significance
Select item 2044328	NM_001352754.2(ARMC9):c.159C>G (p.Ser53=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431518	NM_001352754.2(ARMC9):c.162dup (p.Ser55fs)	ARMC9 (S55fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1961638	NM_001352754.2(ARMC9):c.166T>C (p.Leu56=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1438979	NM_001352754.2(ARMC9):c.167T>C (p.Leu56Ser)	ARMC9 (L56S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441810	NM_001352754.2(ARMC9):c.176A>G (p.Gln59Arg)	ARMC9 (Q59R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1244168	NM_001352754.2(ARMC9):c.177+141G>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1977971	NM_001352754.2(ARMC9):c.178-17T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1940699	NM_001352754.2(ARMC9):c.178-11C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1579324	NM_001352754.2(ARMC9):c.178-5C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113480	NM_001352754.2(ARMC9):c.178-3C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1323929	NM_001352754.2(ARMC9):c.178-2A>C	ARMC9	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1066488	NM_001352754.2(ARMC9):c.178-2A>G	ARMC9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 960775	NM_001352754.2(ARMC9):c.178-1G>A	ARMC9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1480178	NM_001352754.2(ARMC9):c.179A>T (p.Lys60Met)	ARMC9 (K60M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1084003	NM_001352754.2(ARMC9):c.189C>T (p.Val63=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1346966	NM_001352754.2(ARMC9):c.190G>A (p.Ala64Thr)	ARMC9 (A64T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 961349	NM_001352754.2(ARMC9):c.191C>T (p.Ala64Val)	ARMC9 (A64V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385856	NM_001352754.2(ARMC9):c.200A>G (p.Asp67Gly)	ARMC9 (D67G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1097874	NM_001352754.2(ARMC9):c.204C>T (p.Asn68=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 427930	NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)	ARMC9 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1624021	NM_001352754.2(ARMC9):c.222C>T (p.Phe74=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070036	NM_001352754.2(ARMC9):c.225C>T (p.Phe75=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1464757	NM_001352754.2(ARMC9):c.226G>A (p.Asp76Asn)	ARMC9 (D76N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1061587	NM_001352754.2(ARMC9):c.226G>C (p.Asp76His)	ARMC9 (D76H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019119	NM_001352754.2(ARMC9):c.244A>T (p.Ile82Phe)	ARMC9 (I82F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1110327	NM_001352754.2(ARMC9):c.249A>C (p.Ser83=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1366150	NM_001352754.2(ARMC9):c.254C>T (p.Ser85Phe)	ARMC9 (S85F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1434839	NM_001352754.2(ARMC9):c.256A>C (p.Ile86Leu)	ARMC9 (I86L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2164836	NM_001352754.2(ARMC9):c.259C>A (p.Arg87=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 427933	NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter)	ARMC9 (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 999538	NM_001352754.2(ARMC9):c.260G>A (p.Arg87Gln)	ARMC9 (R87Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1002246	NM_001352754.2(ARMC9):c.278C>T (p.Ala93Val)	ARMC9 (A93V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485974	NM_001352754.2(ARMC9):c.281A>G (p.Gln94Arg)	ARMC9 (Q94R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1617202	NM_001352754.2(ARMC9):c.288G>A (p.Leu96=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1576410	NM_001352754.2(ARMC9):c.291A>G (p.Glu97=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1403485	NM_001352754.2(ARMC9):c.296A>G (p.Tyr99Cys)	ARMC9 (Y99C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1525815	NM_001352754.2(ARMC9):c.298C>G (p.Leu100Val)	ARMC9 (L100V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1980514	NM_001352754.2(ARMC9):c.316A>G (p.Ile106Val)	ARMC9 (I106V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1566950	NM_001352754.2(ARMC9):c.330G>A (p.Lys110=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1043432	NM_001352754.2(ARMC9):c.335C>T (p.Ser112Phe)	ARMC9 (S112F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917734	NM_001352754.2(ARMC9):c.348+1G>A	ARMC9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1126874	NM_001352754.2(ARMC9):c.348+10C>G	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539770	NM_001352754.2(ARMC9):c.348+13G>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094913	NM_001352754.2(ARMC9):c.348+14G>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645930	NM_001352754.2(ARMC9):c.348+19dup	ARMC9	Duplication (intron variant)	not provided	GLikely benign
Select item 1667946	NM_001352754.2(ARMC9):c.348+20C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961932	NM_001352754.2(ARMC9):c.349-4C>G	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 955281	NM_001352754.2(ARMC9):c.360G>C (p.Glu120Asp)	ARMC9 (E120D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1588435	NM_001352754.2(ARMC9):c.363G>A (p.Leu121=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 861089	NM_001352754.2(ARMC9):c.367G>A (p.Glu123Lys)	ARMC9 (E123K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1369677	NM_001352754.2(ARMC9):c.373A>T (p.Ile125Phe)	ARMC9 (I125F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1018114	NM_001352754.2(ARMC9):c.395T>G (p.Leu132Arg)	ARMC9 (L132R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052520	NM_001352754.2(ARMC9):c.406G>A (p.Gly136Arg)	ARMC9 (G136R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2480418	NM_001352754.2(ARMC9):c.409G>A (p.Ala137Thr)	ARMC9 (A137T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1353103	NM_001352754.2(ARMC9):c.410C>T (p.Ala137Val)	ARMC9 (A137V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1521030	NM_001352754.2(ARMC9):c.413C>T (p.Ala138Val)	ARMC9 (A138V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2833021	NM_001352754.2(ARMC9):c.414C>G (p.Ala138=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1468256	NM_001352754.2(ARMC9):c.428C>G (p.Thr143Arg)	ARMC9 (T143R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866246	NM_001352754.2(ARMC9):c.439C>T (p.Pro147Ser)	ARMC9 (P147S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715197	NM_001352754.2(ARMC9):c.444C>G (p.Phe148Leu)	ARMC9 (F148L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3315765	NM_001352754.2(ARMC9):c.446A>G (p.Tyr149Cys)	ARMC9 (Y149C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1507446	NM_001352754.2(ARMC9):c.449C>G (p.Ala150Gly)	ARMC9 (A150G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1532649	NM_001352754.2(ARMC9):c.456T>G (p.Pro152=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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