ARMC2[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 2279331	NM_032131.6(ARMC2):c.34C>G (p.Leu12Val)	ARMC2 (L12V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336249	NM_032131.6(ARMC2):c.85A>T (p.Ile29Phe)	ARMC2 (I29F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050582	NM_032131.6(ARMC2):c.155A>C (p.Gln52Pro)	ARMC2 (Q52P)	Single nucleotide variant (5 prime UTR variant +1 more)	ARMC2-related condition	GBenign
Select item 2551971	NM_032131.6(ARMC2):c.214T>C (p.Phe72Leu)	ARMC2 (F72L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057169	NM_032131.6(ARMC2):c.219-4C>T	ARMC2	Single nucleotide variant (intron variant)	ARMC2-related condition	GBenign
Select item 2615442	NM_032131.6(ARMC2):c.253A>G (p.Arg85Gly)	ARMC2 (R85G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409622	NM_032131.6(ARMC2):c.271C>T (p.Arg91Cys)	ARMC2 (R91C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033187	NM_032131.6(ARMC2):c.297G>A (p.Pro99=)	ARMC2	Single nucleotide variant (5 prime UTR variant +1 more)	ARMC2-related condition	GBenign
Select item 2297430	NM_032131.6(ARMC2):c.320G>A (p.Arg107Lys)	ARMC2 (R107K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216066	NM_032131.6(ARMC2):c.359T>A (p.Val120Glu)	ARMC2 (V120E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656823	NM_032131.6(ARMC2):c.405A>G (p.Leu135=)	ARMC2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2656824	NM_032131.6(ARMC2):c.408C>T (p.Phe136=)	ARMC2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1050035	NM_032131.6(ARMC2):c.409A>G (p.Arg137Gly)	ARMC2 (R137G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2517966	NM_032131.6(ARMC2):c.410G>A (p.Arg137Lys)	ARMC2 (R137K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 627631	NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter)	ARMC2 (Q141*)	Single nucleotide variant (5 prime UTR variant +1 more)	Male infertility with teratozoospermia due to single gene mutation +1 more	GPathogenic
Select item 3057122	NM_032131.6(ARMC2):c.497T>C (p.Met166Thr)	ARMC2 (M166T +1 more)	Single nucleotide variant (missense variant +1 more)	ARMC2-related condition	GBenign
Select item 3040116	NM_032131.6(ARMC2):c.551C>T (p.Ala184Val)	ARMC2 (A184V +1 more)	Single nucleotide variant (missense variant)	ARMC2-related condition	GBenign
Select item 1049935	NM_032131.6(ARMC2):c.553A>G (p.Ile185Val)	ARMC2 (I185V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656825	NM_032131.6(ARMC2):c.654T>G (p.Ser218=)	ARMC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488295	NM_032131.6(ARMC2):c.656A>G (p.His219Arg)	ARMC2 (H54R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484958	NM_032131.6(ARMC2):c.799G>T (p.Val267Phe)	ARMC2 (V102F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408803	NM_032131.6(ARMC2):c.824C>T (p.Pro275Leu)	ARMC2 (P110L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370864	NM_032131.6(ARMC2):c.833G>A (p.Arg278His)	ARMC2 (R278H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339930	NM_032131.6(ARMC2):c.845A>C (p.Lys282Thr)	ARMC2 (K282T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 617790	NM_032131.6(ARMC2):c.1023+1G>A	ARMC2	Single nucleotide variant (splice donor variant)	Male infertility with teratozoospermia due to single gene mutation +2 more	GPathogenic
Select item 627630	NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)	ARMC2, ARMC2-AS1 (K263fs +1 more)	Deletion (frameshift variant)	Male infertility with teratozoospermia due to single gene mutation +1 more	GPathogenic
Select item 3056566	NM_032131.6(ARMC2):c.1314T>C (p.Gly438=)	ARMC2, ARMC2-AS1	Single nucleotide variant (synonymous variant)	ARMC2-related condition	GBenign
Select item 2361028	NM_032131.6(ARMC2):c.1468G>A (p.Val490Ile)	ARMC2 (V325I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 3056469	NM_032131.6(ARMC2):c.1637C>T (p.Thr546Met)	ARMC2 (T381M +1 more)	Single nucleotide variant (missense variant)	ARMC2-related condition	GBenign
Select item 2487070	NM_032131.6(ARMC2):c.1642A>C (p.Lys548Gln)	ARMC2 (K548Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307912	NM_032131.6(ARMC2):c.1658G>A (p.Arg553His)	ARMC2 (R388H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548242	NM_032131.6(ARMC2):c.1763G>A (p.Gly588Asp)	ARMC2 (G423D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312267	NM_032131.6(ARMC2):c.1777G>T (p.Ala593Ser)	ARMC2 (A428S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060107	NM_032131.6(ARMC2):c.1779G>A (p.Ala593=)	ARMC2	Single nucleotide variant (synonymous variant)	ARMC2-related condition	GBenign
Select item 2372563	NM_032131.6(ARMC2):c.1787C>T (p.Pro596Leu)	ARMC2 (P596L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347934	NM_032131.6(ARMC2):c.1826G>A (p.Arg609His)	ARMC2 (R444H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048714	NM_032131.6(ARMC2):c.1866G>A (p.Pro622=)	ARMC2	Single nucleotide variant (synonymous variant)	ARMC2-related condition	GLikely benign
Select item 3056500	NM_032131.6(ARMC2):c.1888A>G (p.Ile630Val)	ARMC2 (I465V +1 more)	Single nucleotide variant (missense variant)	ARMC2-related condition	GBenign
Select item 2343616	NM_032131.6(ARMC2):c.1898T>G (p.Leu633Arg)	ARMC2 (L633R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319066	NM_032131.6(ARMC2):c.1919A>T (p.Tyr640Phe)	ARMC2 (Y640F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356258	NM_032131.6(ARMC2):c.2251C>T (p.Arg751Cys)	ARMC2 (R751C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 627628	NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn)	ARMC2 (I760N +1 more)	Single nucleotide variant (missense variant)	Male infertility with teratozoospermia due to single gene mutation +1 more	GPathogenic
Select item 627629	NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs)	ARMC2 (L620fs +1 more)	Deletion (frameshift variant)	Male infertility with teratozoospermia due to single gene mutation +1 more	GPathogenic
Select item 2289483	NM_032131.6(ARMC2):c.2566C>G (p.His856Asp)	ARMC2 (H856D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226332	NM_014454.3(SESN1):c.1535A>G (p.Asp512Gly)	ARMC2, SESN1 (D453G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311922	NM_014454.3(SESN1):c.1442A>G (p.Tyr481Cys)	ARMC2, SESN1 (Y356C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545537	NM_014454.3(SESN1):c.1360G>C (p.Asp454His)	ARMC2, SESN1 (D329H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513295	NM_014454.3(SESN1):c.1216C>G (p.Pro406Ala)	ARMC2, SESN1 (P281A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339613	NM_014454.3(SESN1):c.743C>T (p.Ala248Val)	ARMC2, SESN1 (A123V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383465	NM_014454.3(SESN1):c.536T>C (p.Ile179Thr)	ARMC2, SESN1 (I120T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488389	NM_014454.3(SESN1):c.416G>A (p.Arg139His)	ARMC2, SESN1 (R80H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315886	NM_014454.3(SESN1):c.286G>C (p.Gly96Arg)	SESN1, ARMC2 (G37R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	KLHL32, LIN28B +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic

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Items: 73