ClinVar for Gene (Select 79812) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 125

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295379	NM_024756.3(MMRN2):c.268C>A (p.Pro90Thr)	MMRN2 (P90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295378	NM_024756.3(MMRN2):c.283G>A (p.Val95Ile)	MMRN2 (V95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295377	NM_024756.3(MMRN2):c.2102T>G (p.Leu701Arg)	MMRN2 (L701R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295376	NM_024756.3(MMRN2):c.930C>G (p.Asp310Glu)	MMRN2 (D310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295375	NM_024756.3(MMRN2):c.2414T>C (p.Ile805Thr)	MMRN2 (I805T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295374	NM_024756.3(MMRN2):c.2681G>A (p.Arg894Gln)	MMRN2 (R894Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295373	NM_024756.3(MMRN2):c.1788C>A (p.Phe596Leu)	MMRN2 (F596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295372	NM_024756.3(MMRN2):c.638C>A (p.Ala213Glu)	MMRN2 (A213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295369	NM_024756.3(MMRN2):c.2653G>A (p.Gly885Arg)	MMRN2 (G885R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295368	NM_024756.3(MMRN2):c.1249T>G (p.Ser417Ala)	MMRN2 (S417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295367	NM_024756.3(MMRN2):c.122G>C (p.Trp41Ser)	MMRN2, SNCG (W41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295366	NM_024756.3(MMRN2):c.575C>T (p.Ala192Val)	MMRN2 (A192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295365	NM_024756.3(MMRN2):c.1028C>G (p.Ala343Gly)	MMRN2 (A343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295364	NM_024756.3(MMRN2):c.994G>T (p.Asp332Tyr)	MMRN2 (D332Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3173765	NM_024756.3(MMRN2):c.647C>G (p.Thr216Arg)	MMRN2 (T216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173444	NM_024756.3(MMRN2):c.2813G>A (p.Gly938Asp)	MMRN2 (G938D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173053	NM_024756.3(MMRN2):c.1971G>C (p.Glu657Asp)	MMRN2 (E657D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172988	NM_024756.3(MMRN2):c.1946A>G (p.Gln649Arg)	MMRN2 (Q649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172758	NM_024756.3(MMRN2):c.1574G>A (p.Arg525Gln)	MMRN2 (R525Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172726	NM_024756.3(MMRN2):c.1558G>A (p.Val520Met)	MMRN2 (V520M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2610202	NM_024756.3(MMRN2):c.2105A>G (p.Gln702Arg)	MMRN2 (Q702R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607379	NM_024756.3(MMRN2):c.808C>T (p.Arg270Cys)	MMRN2 (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605333	NM_024756.3(MMRN2):c.163C>G (p.Arg55Gly)	MMRN2, SNCG (R55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604363	NM_024756.3(MMRN2):c.518A>C (p.Gln173Pro)	MMRN2 (Q173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600761	NM_024756.3(MMRN2):c.592C>G (p.Leu198Val)	MMRN2 (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598297	NM_024756.3(MMRN2):c.1576C>T (p.Arg526Trp)	MMRN2 (R526W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593307	NM_024756.3(MMRN2):c.458A>G (p.Asp153Gly)	MMRN2 (D153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2568618	NM_024756.3(MMRN2):c.2626G>A (p.Val876Ile)	MMRN2 (V876I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568594	NM_024756.3(MMRN2):c.2294A>G (p.Asn765Ser)	MMRN2 (N765S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556693	NM_024756.3(MMRN2):c.1915G>A (p.Val639Met)	MMRN2 (V639M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552364	NM_024756.3(MMRN2):c.1939G>T (p.Gly647Trp)	MMRN2 (G647W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551425	NM_024756.3(MMRN2):c.2428C>G (p.Pro810Ala)	MMRN2 (P810A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539712	NM_024756.3(MMRN2):c.163C>T (p.Arg55Cys)	MMRN2, SNCG (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532481	NM_024756.3(MMRN2):c.383C>A (p.Pro128His)	MMRN2 (P128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529514	NM_024756.3(MMRN2):c.1230T>G (p.Asp410Glu)	MMRN2 (D410E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526235	NM_024756.3(MMRN2):c.1003A>G (p.Thr335Ala)	MMRN2 (T335A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523358	NM_024756.3(MMRN2):c.1472A>G (p.Asp491Gly)	MMRN2 (D491G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483450	NM_024756.3(MMRN2):c.62G>C (p.Trp21Ser)	MMRN2, SNCG (W21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475320	NM_024756.3(MMRN2):c.611G>A (p.Gly204Asp)	MMRN2 (G204D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462449	NM_024756.3(MMRN2):c.2047G>C (p.Asp683His)	MMRN2 (D683H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2393524	NM_024756.3(MMRN2):c.1317C>G (p.Asn439Lys)	MMRN2 (N439K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383357	NM_024756.3(MMRN2):c.2600G>A (p.Arg867His)	MMRN2 (R867H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357853	NM_024756.3(MMRN2):c.191A>G (p.Lys64Arg)	MMRN2 (K64R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356582	NM_024756.3(MMRN2):c.1028C>T (p.Ala343Val)	MMRN2 (A343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348474	NM_024756.3(MMRN2):c.1969G>C (p.Glu657Gln)	MMRN2 (E657Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344888	NM_024756.3(MMRN2):c.1294C>A (p.Gln432Lys)	MMRN2 (Q432K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337748	NM_024756.3(MMRN2):c.2415A>G (p.Ile805Met)	MMRN2 (I805M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337339	NM_024756.3(MMRN2):c.841G>A (p.Val281Met)	MMRN2 (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336368	NM_024756.3(MMRN2):c.1513C>T (p.Arg505Trp)	MMRN2 (R505W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335725	NM_024756.3(MMRN2):c.2289A>C (p.Glu763Asp)	MMRN2 (E763D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331529	NM_024756.3(MMRN2):c.1709C>T (p.Ala570Val)	MMRN2 (A570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327456	NM_024756.3(MMRN2):c.325G>A (p.Val109Ile)	MMRN2 (V109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323301	NM_024756.3(MMRN2):c.2224C>T (p.Arg742Cys)	MMRN2 (R742C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303269	NM_024756.3(MMRN2):c.2017C>T (p.Arg673Trp)	MMRN2 (R673W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288527	NM_024756.3(MMRN2):c.1013A>G (p.Lys338Arg)	MMRN2 (K338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281307	NM_024756.3(MMRN2):c.918G>T (p.Gln306His)	MMRN2 (Q306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263739	NM_024756.3(MMRN2):c.1990G>T (p.Ala664Ser)	MMRN2 (A664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257901	NM_024756.3(MMRN2):c.2096G>A (p.Arg699Gln)	MMRN2 (R699Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243793	NM_024756.3(MMRN2):c.485A>G (p.His162Arg)	MMRN2 (H162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243507	NM_024756.3(MMRN2):c.80C>G (p.Thr27Ser)	MMRN2, SNCG (T27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242720	NM_024756.3(MMRN2):c.1184A>T (p.Gln395Leu)	MMRN2 (Q395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242077	NM_024756.3(MMRN2):c.1933G>A (p.Ala645Thr)	MMRN2 (A645T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229224	NM_024756.3(MMRN2):c.1075G>C (p.Gly359Arg)	MMRN2 (G359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216749	NM_024756.3(MMRN2):c.1981C>G (p.Arg661Gly)	MMRN2 (R661G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214199	NM_024756.3(MMRN2):c.568C>T (p.Arg190Trp)	MMRN2 (R190W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809269	GRCh37/hg19 10q23.2(chr10:88578693-88863385)x3	ADIRF, ADIRF-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808798	GRCh37/hg19 10q23.2(chr10:88580250-88708342)x3	BMPR1A, MMRN2	Copy number gain	not provided	GUncertain significance
Select item 1808044	GRCh37/hg19 10q23.2(chr10:88581433-88708342)x3	BMPR1A, MMRN2	Copy number gain	not provided	GUncertain significance
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1453421	NC_000010.10:g.(?_88441193)_(88722432_?)del	SNCG, BMPR1A +2 more	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 1341188	GRCh37/hg19 10q23.2(chr10:88639431-88973306)x3	ADIRF, ADIRF-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340530	GRCh37/hg19 10q23.2(chr10:88586207-88708342)x3	BMPR1A, MMRN2	Copy number gain	not provided	GUncertain significance
Select item 1340291	GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1	ADIRF, ADIRF-AS1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1068879	NC_000010.10:g.(?_88683123)_(89725321_?)del	PAPSS2, MMRN2 +13 more	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 832888	NC_000010.11:g.(?_86668692)_(86954160_?)del	BMPR1A, LDB3 +1 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 831623	NC_000010.11:g.(?_86755016)_(87965564_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 815367	GRCh37/hg19 10q23.2(chr10:88586190-88708342)x3	BMPR1A, MMRN2	Copy number gain	not provided	GUncertain significance
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 723394	NM_024756.3(MMRN2):c.1917G>T (p.Val639=)	MMRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 583733	NC_000010.10:g.(?_88649809)_(89725239_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic

<< First< Prev

Page of 2