ClinVar for Gene (Select 80210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3129682	NM_001352754.2(ARMC9):c.898G>T (p.Ala300Ser)	ARMC9 (A267S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129680	NM_001352754.2(ARMC9):c.1834G>A (p.Gly612Arg)	ARMC9 (G612R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3129679	NM_001352754.2(ARMC9):c.1750G>A (p.Asp584Asn)	ARMC9 (D551N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3129678	NM_001352754.2(ARMC9):c.1366G>A (p.Gly456Ser)	ARMC9 (G423S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068771	NC_000002.11:g.(232072966_232079543)_(232104755_232121298)dup	ARMC9	Duplication	not specified	GUncertain significance
Select item 3032769	NM_001352754.2(ARMC9):c.2394C>T (p.Ser798=)	ARMC9	Single nucleotide variant (synonymous variant)	ARMC9-related disorder	GLikely benign
Select item 3032383	NM_001352754.2(ARMC9):c.2118C>T (p.Cys706=)	ARMC9	Single nucleotide variant (synonymous variant)	ARMC9-related disorder	GLikely benign
Select item 3010173	NM_001352754.2(ARMC9):c.879+13G>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005290	NM_001352754.2(ARMC9):c.1315C>T (p.Leu439=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995258	NM_001352754.2(ARMC9):c.1774-14G>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994141	NM_001352754.2(ARMC9):c.1552-12del	ARMC9	Deletion (intron variant)	not provided	GLikely benign
Select item 2988442	NM_001352754.2(ARMC9):c.1797C>T (p.Ala599=)	ARMC9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2987227	NM_001352754.2(ARMC9):c.2262-17T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976614	NM_001352754.2(ARMC9):c.1995-20T>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975929	NM_001352754.2(ARMC9):c.1718-1G>A	ARMC9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2974550	NM_001352754.2(ARMC9):c.1038A>G (p.Thr346=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970430	NM_001352754.2(ARMC9):c.505-17T>C	ARMC9, LOC129935819	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969541	NM_001352754.2(ARMC9):c.1530T>C (p.Leu510=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964796	NM_001352754.2(ARMC9):c.542A>C (p.Lys181Thr)	ARMC9 (K181T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958358	NM_001352754.2(ARMC9):c.1995-20T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956900	NM_001352754.2(ARMC9):c.2067C>T (p.Ala689=)	ARMC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919601	NM_001352754.2(ARMC9):c.849G>A (p.Ala283=)	ARMC9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2896263	NM_001352754.2(ARMC9):c.1337G>A (p.Arg446His)	ARMC9 (R413H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890961	NM_001352754.2(ARMC9):c.897A>G (p.Arg299=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882214	NM_001352754.2(ARMC9):c.1627-5_1627-3del	ARMC9	Deletion (intron variant)	not provided	GLikely benign
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 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 2857060	NM_001352754.2(ARMC9):c.1239G>A (p.Lys413=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856631	NM_001352754.2(ARMC9):c.2262-4C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853034	NM_001352754.2(ARMC9):c.1717+1G>A	ARMC9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2843165	NM_001352754.2(ARMC9):c.1119+18C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842281	NM_001352754.2(ARMC9):c.1509G>T (p.Val503=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2836169	NM_001352754.2(ARMC9):c.1947C>T (p.Pro649=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2820480	NM_001352754.2(ARMC9):c.1211-15C>G	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791177	NM_001352754.2(ARMC9):c.1095C>T (p.Leu365=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790784	NM_001352754.2(ARMC9):c.2131+8T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781722	NM_001352754.2(ARMC9):c.1552-13C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778823	NM_001352754.2(ARMC9):c.1636G>C (p.Asp546His)	ARMC9 (D513H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771470	NM_001352754.2(ARMC9):c.930C>A (p.Val310=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2761179	NM_001352754.2(ARMC9):c.880-5C>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742550	NM_001352754.2(ARMC9):c.2058C>T (p.Ala686=)	ARMC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2672866	NM_001352754.2(ARMC9):c.1551+193C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2604303	NM_001352754.2(ARMC9):c.1072C>G (p.Gln358Glu)	ARMC9 (Q358E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2575684	NM_001352754.2(ARMC9):c.1351G>A (p.Ala451Thr)	ARMC9 (A418T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2496497	NM_001352754.2(ARMC9):c.990C>A (p.Asp330Glu)	ARMC9 (D330E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484620	NM_001352754.2(ARMC9):c.1861A>G (p.Thr621Ala)	ARMC9 (T588A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2472936	NM_001352754.2(ARMC9):c.1811A>G (p.Asp604Gly)	ARMC9 (D571G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2424081	NC_000002.11:g.(?_232121279)_(232121353_?)dup	ARMC9	Duplication	not provided	GLikely pathogenic
Select item 2424080	NC_000002.11:g.(?_232079524)_(232091531_?)del	ARMC9	Deletion	not provided	GPathogenic
Select item 2424079	NC_000002.11:g.(?_232126999)_(232141508_?)del	ARMC9	Deletion	not provided	GPathogenic
Select item 2424078	NC_000002.11:g.(?_232234644)_(232234856_?)del	ARMC9	Deletion	not provided	GUncertain significance
Select item 2424077	NC_000002.11:g.(?_232135675)_(232135805_?)del	ARMC9	Deletion	not provided	GPathogenic
Select item 2356885	NM_001352754.2(ARMC9):c.918A>C (p.Lys306Asn)	ARMC9 (K273N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314080	NM_001352754.2(ARMC9):c.1364A>G (p.Asp455Gly)	ARMC9 (D422G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251184	NM_001352754.2(ARMC9):c.1955G>T (p.Arg652Met)	ARMC9 (R619M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2231186	NM_001352754.2(ARMC9):c.1879-3C>T	ARMC9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2228744	NM_001352754.2(ARMC9):c.836G>A (p.Arg279Gln)	ARMC9 (R279Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2195473	NM_001352754.2(ARMC9):c.2051C>T (p.Pro684Leu)	ARMC9 (P684L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166905	NM_001352754.2(ARMC9):c.1701C>G (p.Ile567Met)	ARMC9 (I567M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166493	NM_001352754.2(ARMC9):c.1162C>T (p.Arg388Trp)	ARMC9 (R355W +1 more)	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 2158504	NM_001352754.2(ARMC9):c.1484T>C (p.Met495Thr)	ARMC9 (M462T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2156654	NM_001352754.2(ARMC9):c.2346G>A (p.Ala782=)	ARMC9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144889	NM_001352754.2(ARMC9):c.1813G>A (p.Glu605Lys)	ARMC9 (E572K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2134916	NM_001352754.2(ARMC9):c.1171A>G (p.Met391Val)	ARMC9 (M358V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133818	NM_001352754.2(ARMC9):c.1873C>G (p.Leu625Val)	ARMC9 (L592V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2133067	NM_001352754.2(ARMC9):c.903C>T (p.Ser301=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2132661	NM_001352754.2(ARMC9):c.1718-3T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130055	NM_001352754.2(ARMC9):c.663A>C (p.Glu221Asp)	ARMC9 (E221D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128510	NM_001352754.2(ARMC9):c.1027-1G>A	ARMC9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2125057	NM_001352754.2(ARMC9):c.1427T>A (p.Leu476Gln)	ARMC9 (L443Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123373	NM_001352754.2(ARMC9):c.1537C>T (p.His513Tyr)	ARMC9 (H480Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122050	NM_001352754.2(ARMC9):c.1759G>A (p.Asp587Asn)	ARMC9 (D554N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2120750	NM_001352754.2(ARMC9):c.1848A>G (p.Gly616=)	ARMC9	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2113862	NM_001352754.2(ARMC9):c.1162C>G (p.Arg388Gly)	ARMC9 (R355G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113480	NM_001352754.2(ARMC9):c.178-3C>T	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110832	NM_001352754.2(ARMC9):c.913G>C (p.Val305Leu)	ARMC9 (V272L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2110110	NM_001352754.2(ARMC9):c.653T>C (p.Val218Ala)	ARMC9 (V218A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107846	NM_001352754.2(ARMC9):c.1758A>G (p.Glu586=)	ARMC9	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2103254	NM_001352754.2(ARMC9):c.1003_1004delinsGC (p.Phe335Ala)	ARMC9 (F302A +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2100435	NM_001352754.2(ARMC9):c.597+19T>C	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2096807	NM_001352754.2(ARMC9):c.550G>A (p.Ala184Thr)	ARMC9 (A184T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2096671	NM_001352754.2(ARMC9):c.953A>T (p.Tyr318Phe)	ARMC9 (Y318F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2095608	NM_001352754.2(ARMC9):c.815G>T (p.Arg272Leu)	ARMC9 (R272L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2094913	NM_001352754.2(ARMC9):c.348+14G>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094180	NM_001352754.2(ARMC9):c.1752T>A (p.Asp584Glu)	ARMC9 (D551E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094129	NM_001352754.2(ARMC9):c.915-12G>A	ARMC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2093344	NM_001352754.2(ARMC9):c.1526A>T (p.Asp509Val)	ARMC9 (D476V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2091028	NM_001352754.2(ARMC9):c.1554dup (p.Gln519fs)	ARMC9 (Q519fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2087132	NM_001352754.2(ARMC9):c.709G>C (p.Asp237His)	ARMC9 (D237H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086193	NM_001352754.2(ARMC9):c.493G>A (p.Glu165Lys)	ARMC9 (E165K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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