ARMC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +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)	not specified	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)	not specified	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 disorder	GBenign
Select item 2551971	NM_032131.6(ARMC2):c.214T>C (p.Phe72Leu)	ARMC2 (F72L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3057169	NM_032131.6(ARMC2):c.219-4C>T	ARMC2	Single nucleotide variant (intron variant)	ARMC2-related disorder	GBenign
Select item 2615442	NM_032131.6(ARMC2):c.253A>G (p.Arg85Gly)	ARMC2 (R85G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409622	NM_032131.6(ARMC2):c.271C>T (p.Arg91Cys)	ARMC2 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	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 disorder	GBenign
Select item 2297430	NM_032131.6(ARMC2):c.320G>A (p.Arg107Lys)	ARMC2 (R107K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3129625	NM_032131.6(ARMC2):c.368C>T (p.Ala123Val)	ARMC2 (A123V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified	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 3129626	NM_032131.6(ARMC2):c.437C>T (p.Pro146Leu)	ARMC2 (P146L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 disorder	GBenign
Select item 3315486	NM_032131.6(ARMC2):c.506A>G (p.Asp169Gly)	ARMC2 (D169G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040116	NM_032131.6(ARMC2):c.551C>T (p.Ala184Val)	ARMC2 (A184V +1 more)	Single nucleotide variant (missense variant)	ARMC2-related disorder	GBenign
Select item 1049935	NM_032131.6(ARMC2):c.553A>G (p.Ile185Val)	ARMC2 (I185V +1 more)	Single nucleotide variant (missense variant)	ARMC2-related disorder +1 more	GConflicting classifications of pathogenicity
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)	not specified	GUncertain significance
Select item 3315444	NM_032131.6(ARMC2):c.691G>A (p.Ala231Thr)	ARMC2 (A66T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484958	NM_032131.6(ARMC2):c.799G>T (p.Val267Phe)	ARMC2 (V102F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408803	NM_032131.6(ARMC2):c.824C>T (p.Pro275Leu)	ARMC2 (P110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315517	NM_032131.6(ARMC2):c.828T>G (p.Ile276Met)	ARMC2 (I111M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370864	NM_032131.6(ARMC2):c.833G>A (p.Arg278His)	ARMC2 (R278H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339930	NM_032131.6(ARMC2):c.845A>C (p.Lys282Thr)	ARMC2 (K282T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129627	NM_032131.6(ARMC2):c.863C>T (p.Thr288Met)	ARMC2 (T288M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315506	NM_032131.6(ARMC2):c.877T>G (p.Cys293Gly)	ARMC2 (C293G +1 more)	Single nucleotide variant (missense variant)	not specified	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 3315422	NM_032131.6(ARMC2):c.1078A>G (p.Ser360Gly)	ARMC2, ARMC2-AS1 (S195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315401	NM_032131.6(ARMC2):c.1148G>C (p.Arg383Thr)	ARMC2, ARMC2-AS1 (R218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	GBenign
Select item 3315476	NM_032131.6(ARMC2):c.1406T>C (p.Leu469Pro)	ARMC2 (L469P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129610	NM_032131.6(ARMC2):c.1436C>T (p.Thr479Met)	ARMC2 (T479M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361028	NM_032131.6(ARMC2):c.1468G>A (p.Val490Ile)	ARMC2 (V325I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129611	NM_032131.6(ARMC2):c.1484C>T (p.Ala495Val)	ARMC2 (A495V +1 more)	Single nucleotide variant (missense variant)	not specified	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 3129612	NM_032131.6(ARMC2):c.1610G>A (p.Arg537His)	ARMC2 (R372H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056469	NM_032131.6(ARMC2):c.1637C>T (p.Thr546Met)	ARMC2 (T381M +1 more)	Single nucleotide variant (missense variant)	ARMC2-related disorder	GBenign
Select item 2487070	NM_032131.6(ARMC2):c.1642A>C (p.Lys548Gln)	ARMC2 (K548Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315455	NM_032131.6(ARMC2):c.1649A>G (p.Asn550Ser)	ARMC2 (N550S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307912	NM_032131.6(ARMC2):c.1658G>A (p.Arg553His)	ARMC2 (R388H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315466	NM_032131.6(ARMC2):c.1685G>A (p.Ser562Asn)	ARMC2 (S397N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129613	NM_032131.6(ARMC2):c.1715C>T (p.Thr572Met)	ARMC2 (T407M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129614	NM_032131.6(ARMC2):c.1747C>G (p.Pro583Ala)	ARMC2 (P418A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548242	NM_032131.6(ARMC2):c.1763G>A (p.Gly588Asp)	ARMC2 (G423D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312267	NM_032131.6(ARMC2):c.1777G>T (p.Ala593Ser)	ARMC2 (A428S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060107	NM_032131.6(ARMC2):c.1779G>A (p.Ala593=)	ARMC2	Single nucleotide variant (synonymous variant)	ARMC2-related disorder	GBenign
Select item 2372563	NM_032131.6(ARMC2):c.1787C>T (p.Pro596Leu)	ARMC2 (P596L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347934	NM_032131.6(ARMC2):c.1826G>A (p.Arg609His)	ARMC2 (R444H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048714	NM_032131.6(ARMC2):c.1866G>A (p.Pro622=)	ARMC2	Single nucleotide variant (synonymous variant)	ARMC2-related disorder	GLikely benign
Select item 3129616	NM_032131.6(ARMC2):c.1883C>T (p.Pro628Leu)	ARMC2 (P628L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056500	NM_032131.6(ARMC2):c.1888A>G (p.Ile630Val)	ARMC2 (I465V +1 more)	Single nucleotide variant (missense variant)	ARMC2-related disorder	GBenign
Select item 2343616	NM_032131.6(ARMC2):c.1898T>G (p.Leu633Arg)	ARMC2 (L633R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129617	NM_032131.6(ARMC2):c.1910C>T (p.Thr637Met)	ARMC2 (T637M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319066	NM_032131.6(ARMC2):c.1919A>T (p.Tyr640Phe)	ARMC2 (Y640F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129618	NM_032131.6(ARMC2):c.1928T>C (p.Leu643Pro)	ARMC2 (L478P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129619	NM_032131.6(ARMC2):c.1964C>T (p.Ala655Val)	ARMC2 (A490V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315496	NM_032131.6(ARMC2):c.1996A>G (p.Lys666Glu)	ARMC2 (K666E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129620	NM_032131.6(ARMC2):c.2039T>C (p.Leu680Ser)	ARMC2 (L515S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129621	NM_032131.6(ARMC2):c.2063A>G (p.Asn688Ser)	ARMC2 (N523S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129622	NM_032131.6(ARMC2):c.2120A>G (p.His707Arg)	ARMC2 (H542R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315433	NM_032131.6(ARMC2):c.2228A>G (p.Asn743Ser)	ARMC2 (N743S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356258	NM_032131.6(ARMC2):c.2251C>T (p.Arg751Cys)	ARMC2 (R751C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315411	NM_032131.6(ARMC2):c.2252G>A (p.Arg751His)	ARMC2 (R586H +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3160535	NM_014454.3(SESN1):c.1592T>C (p.Ile531Thr)	ARMC2, SESN1 (I472T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226332	NM_014454.3(SESN1):c.1535A>G (p.Asp512Gly)	ARMC2, SESN1 (D453G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160534	NM_014454.3(SESN1):c.1492A>C (p.Thr498Pro)	ARMC2, SESN1 (T373P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311922	NM_014454.3(SESN1):c.1442A>G (p.Tyr481Cys)	ARMC2, SESN1 (Y356C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545537	NM_014454.3(SESN1):c.1360G>C (p.Asp454His)	ARMC2, SESN1 (D329H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160533	NM_014454.3(SESN1):c.1280A>T (p.Tyr427Phe)	ARMC2, SESN1 (Y368F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317666	NM_014454.3(SESN1):c.1226G>A (p.Arg409His)	ARMC2, SESN1 (R350H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513295	NM_014454.3(SESN1):c.1216C>G (p.Pro406Ala)	ARMC2, SESN1 (P281A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160543	NM_014454.3(SESN1):c.953A>G (p.Asn318Ser)	ARMC2, SESN1 (N259S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317665	NM_014454.3(SESN1):c.896A>G (p.Asn299Ser)	ARMC2, SESN1 (N240S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160542	NM_014454.3(SESN1):c.767C>T (p.Ala256Val)	ARMC2, SESN1 (A197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339613	NM_014454.3(SESN1):c.743C>T (p.Ala248Val)	ARMC2, SESN1 (A123V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160540	NM_014454.3(SESN1):c.644A>G (p.Asn215Ser)	ARMC2, SESN1 (N215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160539	NM_014454.3(SESN1):c.632A>G (p.Asn211Ser)	ARMC2, SESN1 (N86S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160538	NM_014454.3(SESN1):c.618C>A (p.Asp206Glu)	ARMC2, SESN1 (D81E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160537	NM_014454.3(SESN1):c.587A>G (p.His196Arg)	ARMC2, SESN1 (H196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383465	NM_014454.3(SESN1):c.536T>C (p.Ile179Thr)	ARMC2, SESN1 (I120T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488389	NM_014454.3(SESN1):c.416G>A (p.Arg139His)	ARMC2, SESN1 (R80H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160536	NM_014454.3(SESN1):c.327A>T (p.Arg109Ser)	ARMC2, SESN1 (R109S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315886	NM_014454.3(SESN1):c.286G>C (p.Gly96Arg)	ARMC2, SESN1 (G37R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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