ClinVar for Gene (Select 143162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279936	NM_001018071.4(FRMPD2):c.3599G>C (p.Ser1200Thr)	FRMPD2 (S211T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279935	NM_001018071.4(FRMPD2):c.511C>T (p.Pro171Ser)	FRMPD2 (P171S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279933	NM_001018071.4(FRMPD2):c.894G>T (p.Gln298His)	FRMPD2 (Q298H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279932	NM_001018071.4(FRMPD2):c.728G>A (p.Ser243Asn)	FRMPD2 (S243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279931	NM_001018071.4(FRMPD2):c.665C>T (p.Ala222Val)	FRMPD2 (A222V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279930	NM_001018071.4(FRMPD2):c.134T>G (p.Leu45Arg)	FRMPD2 (L43R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279929	NM_001018071.4(FRMPD2):c.515C>A (p.Ala172Asp)	FRMPD2 (A172D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279928	NM_001018071.4(FRMPD2):c.232C>T (p.His78Tyr)	FRMPD2 (H76Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279927	NM_001018071.4(FRMPD2):c.160G>A (p.Asp54Asn)	FRMPD2 (D52N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279926	NM_001018071.4(FRMPD2):c.1561C>T (p.Arg521Trp)	FRMPD2 (R496W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279925	NM_001018071.4(FRMPD2):c.655G>A (p.Glu219Lys)	FRMPD2 (E195K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279924	NM_001018071.4(FRMPD2):c.1805A>C (p.Lys602Thr)	FRMPD2 (K602T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279923	NM_001018071.4(FRMPD2):c.3403G>A (p.Val1135Met)	FRMPD2 (V1110M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279922	NM_001018071.4(FRMPD2):c.1435T>C (p.Phe479Leu)	FRMPD2 (F479L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279921	NM_001018071.4(FRMPD2):c.1619A>G (p.Gln540Arg)	FRMPD2 (Q540R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279920	NM_001018071.4(FRMPD2):c.3214G>C (p.Val1072Leu)	FRMPD2 (V83L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3097016	NM_001018071.4(FRMPD2):c.968C>T (p.Thr323Ile)	FRMPD2 (T299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097015	NM_001018071.4(FRMPD2):c.8C>T (p.Pro3Leu)	FRMPD2 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097014	NM_001018071.4(FRMPD2):c.870C>A (p.Ser290Arg)	FRMPD2 (S290R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097013	NM_001018071.4(FRMPD2):c.789C>A (p.Arg263=)	FRMPD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3097012	NM_001018071.4(FRMPD2):c.773G>A (p.Ser258Asn)	FRMPD2 (S234N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097011	NM_001018071.4(FRMPD2):c.641G>A (p.Arg214His)	FRMPD2 (R190H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097010	NM_001018071.4(FRMPD2):c.3869T>G (p.Met1290Arg)	FRMPD2 (M1290R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097009	NM_001018071.4(FRMPD2):c.3743C>T (p.Ser1248Phe)	FRMPD2 (S259F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097008	NM_001018071.4(FRMPD2):c.3385G>A (p.Gly1129Ser)	FRMPD2 (G1104S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097007	NM_001018071.4(FRMPD2):c.320A>G (p.Tyr107Cys)	FRMPD2 (Y107C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097006	NM_001018071.4(FRMPD2):c.2869G>T (p.Asp957Tyr)	FRMPD2 (D932Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097005	NM_001018071.4(FRMPD2):c.2591G>A (p.Gly864Asp)	FRMPD2 (G864D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097004	NM_001018071.4(FRMPD2):c.2540A>G (p.Gln847Arg)	FRMPD2 (Q847R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097003	NM_001018071.4(FRMPD2):c.2398G>C (p.Asp800His)	FRMPD2 (D775H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097002	NM_001018071.4(FRMPD2):c.2372A>G (p.Asn791Ser)	FRMPD2 (N766S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097001	NM_001018071.4(FRMPD2):c.2324G>A (p.Arg775His)	FRMPD2 (R750H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097000	NM_001018071.4(FRMPD2):c.2264C>G (p.Ala755Gly)	FRMPD2, LOC126860930 (A755G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096999	NM_001018071.4(FRMPD2):c.2134A>G (p.Lys712Glu)	FRMPD2 (K687E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096998	NM_001018071.4(FRMPD2):c.2020A>G (p.Ile674Val)	FRMPD2 (I649V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096997	NM_001018071.4(FRMPD2):c.1991C>T (p.Pro664Leu)	FRMPD2 (P639L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096996	NM_001018071.4(FRMPD2):c.1618C>G (p.Gln540Glu)	FRMPD2 (Q515E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096995	NM_001018071.4(FRMPD2):c.145C>T (p.Arg49Cys)	FRMPD2 (R47C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096994	NM_001018071.4(FRMPD2):c.1442A>G (p.Asn481Ser)	FRMPD2 (N457S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096993	NM_001018071.4(FRMPD2):c.1403T>C (p.Leu468Pro)	FRMPD2 (L444P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096992	NM_001018071.4(FRMPD2):c.1280G>A (p.Arg427Lys)	FRMPD2 (R403K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
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 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2640445	NM_001018071.4(FRMPD2):c.165T>C (p.Tyr55=)	FRMPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640444	NM_001018071.4(FRMPD2):c.716C>T (p.Thr239Met)	FRMPD2 (T215M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640443	NM_001018071.4(FRMPD2):c.1051G>A (p.Gly351Arg)	FRMPD2 (G327R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640442	NM_001018071.4(FRMPD2):c.1482C>T (p.His494=)	FRMPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640441	NM_001018071.4(FRMPD2):c.2312G>A (p.Arg771Gln)	FRMPD2 (R746Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640440	NM_001018071.4(FRMPD2):c.2801C>A (p.Ser934Tyr)	FRMPD2 (S909Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640439	NM_001018071.4(FRMPD2):c.3588C>T (p.Asp1196=)	FRMPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617165	NM_001018071.4(FRMPD2):c.2118C>A (p.Phe706Leu)	FRMPD2 (F681L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609702	NM_001018071.4(FRMPD2):c.2944A>C (p.Ile982Leu)	FRMPD2 (I982L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605248	NM_001018071.4(FRMPD2):c.1151G>A (p.Gly384Asp)	FRMPD2 (G360D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598513	NM_001018071.4(FRMPD2):c.1531C>T (p.Arg511Trp)	FRMPD2 (R511W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594325	NM_001018071.4(FRMPD2):c.1334A>T (p.His445Leu)	FRMPD2 (H421L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	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 2561102	NM_001018071.4(FRMPD2):c.2878C>A (p.Leu960Ile)	FRMPD2 (L960I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558894	NM_001018071.4(FRMPD2):c.344G>T (p.Trp115Leu)	FRMPD2 (W115L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557110	NM_001018071.4(FRMPD2):c.1255A>G (p.Met419Val)	FRMPD2 (M395V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552266	NM_001018071.4(FRMPD2):c.657G>C (p.Glu219Asp)	FRMPD2 (E195D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522697	NM_001018071.4(FRMPD2):c.763A>G (p.Ser255Gly)	FRMPD2 (S255G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517048	NM_001018071.4(FRMPD2):c.2531G>A (p.Arg844Lys)	FRMPD2 (R819K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2494026	NM_001018071.4(FRMPD2):c.2651A>G (p.Asp884Gly)	FRMPD2 (D884G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489125	NM_001018071.4(FRMPD2):c.3667C>T (p.Leu1223Phe)	FRMPD2 (L1223F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488034	NM_001018071.4(FRMPD2):c.3026G>A (p.Cys1009Tyr)	FRMPD2 (C984Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485173	NM_001018071.4(FRMPD2):c.1982A>G (p.Asn661Ser)	FRMPD2 (N636S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479773	NM_001018071.4(FRMPD2):c.3601C>A (p.Pro1201Thr)	FRMPD2 (P1176T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477860	NM_001018071.4(FRMPD2):c.3659G>T (p.Gly1220Val)	FRMPD2 (G1220V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457426	NM_001018071.4(FRMPD2):c.1502C>A (p.Ala501Glu)	FRMPD2 (A501E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456096	NM_001018071.4(FRMPD2):c.1145A>C (p.Tyr382Ser)	FRMPD2 (Y382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411509	NM_001018071.4(FRMPD2):c.2306C>T (p.Pro769Leu)	FRMPD2 (P744L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409651	NM_001018071.4(FRMPD2):c.2432G>C (p.Gly811Ala)	FRMPD2 (G811A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394607	NM_001018071.4(FRMPD2):c.3364G>A (p.Glu1122Lys)	FRMPD2 (E133K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389773	NM_001018071.4(FRMPD2):c.2478A>G (p.Ile826Met)	FRMPD2 (I801M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386875	NM_001018071.4(FRMPD2):c.158C>T (p.Ser53Leu)	FRMPD2 (S51L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381545	NM_001018071.4(FRMPD2):c.1712G>A (p.Gly571Asp)	FRMPD2 (G546D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380683	NM_001018071.4(FRMPD2):c.548T>C (p.Val183Ala)	FRMPD2 (V159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379392	NM_001018071.4(FRMPD2):c.980C>T (p.Pro327Leu)	FRMPD2 (P303L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378665	NM_001018071.4(FRMPD2):c.893A>G (p.Gln298Arg)	FRMPD2 (Q274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377131	NM_001018071.4(FRMPD2):c.3635G>A (p.Ser1212Asn)	FRMPD2 (S223N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367791	NM_001018071.4(FRMPD2):c.3347C>T (p.Pro1116Leu)	FRMPD2 (P1091L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361239	NM_001018071.4(FRMPD2):c.1318C>A (p.His440Asn)	FRMPD2 (H440N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360357	NM_001018071.4(FRMPD2):c.1760G>A (p.Arg587Gln)	FRMPD2 (R587Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329256	NM_001018071.4(FRMPD2):c.496T>A (p.Ser166Thr)	FRMPD2 (S142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323922	NM_001018071.4(FRMPD2):c.2806T>G (p.Cys936Gly)	FRMPD2 (C936G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322740	NM_001018071.4(FRMPD2):c.674C>T (p.Ala225Val)	FRMPD2 (A225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317391	NM_001018071.4(FRMPD2):c.1361A>G (p.Asp454Gly)	FRMPD2 (D430G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299596	NM_001018071.4(FRMPD2):c.1090G>T (p.Val364Leu)	FRMPD2 (V340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283846	NM_001018071.4(FRMPD2):c.1646T>A (p.Val549Asp)	FRMPD2 (V524D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272302	NM_001018071.4(FRMPD2):c.3200C>T (p.Ser1067Leu)	FRMPD2 (S1067L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244661	NM_001018071.4(FRMPD2):c.272A>G (p.Gln91Arg)	FRMPD2 (Q89R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241190	NM_001018071.4(FRMPD2):c.677C>T (p.Pro226Leu)	FRMPD2 (P202L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240881	NM_001018071.4(FRMPD2):c.1672A>G (p.Arg558Gly)	FRMPD2 (R533G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235861	NM_001018071.4(FRMPD2):c.845G>A (p.Gly282Glu)	FRMPD2 (G258E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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