ClinVar for MedGen (Select 6292) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775485	NM_001110556.2(FLNA):c.2474A>T (p.Asp825Val)	FLNA (D825V)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome	GUncertain significance
Select item 3764066	NM_001110556.2(FLNA):c.1502C>T (p.Ala501Val)	FLNA (A501V)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3763970	NM_001110556.2(FLNA):c.7210G>C (p.Val2404Leu)	FLNA (V2396L +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 3763935	NM_001110556.2(FLNA):c.3958G>C (p.Glu1320Gln)	FLNA (E1320Q)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3763920	NM_001110556.2(FLNA):c.551C>G (p.Pro184Arg)	FLNA (P184R)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3763883	NM_001110556.2(FLNA):c.6522G>T (p.Met2174Ile)	FLNA (M2166I +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763827	NM_001110556.2(FLNA):c.868+15C>T	FLNA	Single nucleotide variant (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763822	NM_001110556.2(FLNA):c.6465C>T (p.Asn2155=)	FLNA	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763800	NM_001110556.2(FLNA):c.622+9G>A	FLNA	Single nucleotide variant (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763690	NM_001110556.2(FLNA):c.2768T>C (p.Val923Ala)	FLNA (V923A)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3763625	NM_001110556.2(FLNA):c.4474+7G>T	FLNA	Single nucleotide variant (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763600	NM_001110556.2(FLNA):c.1591_1593del (p.Lys531del)	FLNA (K531del)	Deletion (inframe_deletion)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 3763591	NM_001110556.2(FLNA):c.7333+12G>C	FLNA	Single nucleotide variant (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763577	NM_001110556.2(FLNA):c.6770-12G>C	FLNA	Single nucleotide variant (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 3763333	NM_001110556.2(FLNA):c.622+5G>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3763179	NM_001110556.2(FLNA):c.4189G>A (p.Glu1397Lys)	FLNA (E1397K)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 3763150	NM_001110556.2(FLNA):c.4720G>A (p.Asp1574Asn)	FLNA (D1574N)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3763050	NM_001110556.2(FLNA):c.5610C>A (p.Ala1870=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3763036	NM_001110556.2(FLNA):c.2151C>T (p.Cys717=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3762985	NM_001110556.2(FLNA):c.1430-15C>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3762871	NM_001110556.2(FLNA):c.5887C>G (p.Leu1963Val)	FLNA (L1955V +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762808	NM_001110556.2(FLNA):c.6295G>A (p.Asp2099Asn)	FLNA (D2091N +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762674	NM_001110556.2(FLNA):c.4945+15T>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3762652	NM_001110556.2(FLNA):c.3068G>A (p.Gly1023Asp)	FLNA (G1023D)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762544	NM_001110556.2(FLNA):c.3329C>T (p.Ala1110Val)	FLNA (A1110V)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762486	NM_001110556.2(FLNA):c.2520C>G (p.Pro840=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3762435	NM_001110556.2(FLNA):c.609C>T (p.Asp203=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 3762276	NM_001110556.2(FLNA):c.5995C>T (p.Leu1999=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3762231	NM_001110556.2(FLNA):c.3245C>T (p.Ala1082Val)	FLNA (A1082V)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762182	NM_001110556.2(FLNA):c.3419_3420delinsAT (p.Phe1140Tyr)	FLNA (F1140Y)	Indel (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762108	NM_001110556.2(FLNA):c.5417-10_5417-3dup	FLNA	Duplication (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3762040	NM_001110556.2(FLNA):c.1913A>G (p.Gln638Arg)	FLNA (Q638R)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3762022	NM_001110556.2(FLNA):c.6769+18C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761928	NM_001110556.2(FLNA):c.3687C>T (p.Tyr1229=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761881	NM_001110556.2(FLNA):c.1509C>T (p.Phe503=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761842	NM_001110556.2(FLNA):c.6351C>T (p.Asn2117=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 3761787	NM_001110556.2(FLNA):c.6227-15G>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761785	NM_001110556.2(FLNA):c.4485G>A (p.Glu1495=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761783	NM_001110556.2(FLNA):c.5416+18A>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761745	NM_001110556.2(FLNA):c.1334G>C (p.Ser445Thr)	FLNA (S445T)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761707	NM_001110556.2(FLNA):c.1494G>A (p.Lys498=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761675	NM_001110556.2(FLNA):c.1483G>T (p.Val495Leu)	FLNA (V495L)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3761655	NM_001110556.2(FLNA):c.7001G>A (p.Arg2334His)	FLNA (R2326H +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 3761623	NM_001110556.2(FLNA):c.4657C>T (p.Pro1553Ser)	FLNA (P1553S)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3761606	NM_001110556.2(FLNA):c.5703C>A (p.Ala1901=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761536	NM_001110556.2(FLNA):c.2481C>T (p.Ile827=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761249	NM_001110556.2(FLNA):c.3181G>A (p.Ala1061Thr)	FLNA (A1061T)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3761049	NM_001110556.2(FLNA):c.6015C>A (p.Gly2005=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3761002	NM_001110556.2(FLNA):c.5076T>C (p.Asp1692=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760956	NM_001110556.2(FLNA):c.2656+11G>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760307	NM_001110556.2(FLNA):c.3105C>T (p.Pro1035=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760306	NM_001110556.2(FLNA):c.7400dup (p.Asp2467fs)	FLNA (D2459fs +1 more)	Duplication (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3760268	NM_001110556.2(FLNA):c.2566-8G>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760245	NM_001110556.2(FLNA):c.2944+2T>A	FLNA	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 3760204	NM_001110556.2(FLNA):c.4626T>A (p.Thr1542=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760203	NM_001110556.2(FLNA):c.1545G>A (p.Leu515=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760138	NM_001110556.2(FLNA):c.4475-2A>G	FLNA	Single nucleotide variant (splice acceptor variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 3760119	NM_001110556.2(FLNA):c.6770-20G>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760055	NM_001110556.2(FLNA):c.623-14C>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760036	NM_001110556.2(FLNA):c.6063G>C (p.Val2021=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3760004	NM_001110556.2(FLNA):c.4571T>C (p.Leu1524Pro)	FLNA (L1524P)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3759984	NM_001110556.2(FLNA):c.7140C>T (p.Val2380=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759958	NM_001110556.2(FLNA):c.1414dup (p.Val472fs)	FLNA (V472fs)	Duplication (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759928	NM_001110556.2(FLNA):c.6512dup (p.Gln2172fs)	FLNA (Q2164fs +1 more)	Duplication (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759925	NM_001110556.2(FLNA):c.4304-4T>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759881	NM_001110556.2(FLNA):c.2640T>G (p.Pro880=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759850	NM_001110556.2(FLNA):c.5557+2T>G	FLNA	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759786	NM_001110556.2(FLNA):c.7900dup (p.Asp2634fs)	FLNA, LOC107988032 (D2626fs +1 more)	Duplication (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3759727	NM_001110556.2(FLNA):c.2626A>T (p.Lys876Ter)	FLNA (K876*)	Single nucleotide variant (nonsense)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759722	NM_001110556.2(FLNA):c.6227-1G>A	FLNA	Single nucleotide variant (splice acceptor variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759709	NM_001110556.2(FLNA):c.2022+1G>A	FLNA	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759704	NM_001110556.2(FLNA):c.3447A>C (p.Pro1149=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759440	NM_001110556.2(FLNA):c.6023-8G>C	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759406	NM_001110556.2(FLNA):c.6581del (p.Glu2194fs)	FLNA (E2186fs +1 more)	Deletion (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759380	NM_001110556.2(FLNA):c.7502del (p.Tyr2501fs)	FLNA (Y2493fs +1 more)	Deletion (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759270	NM_001110556.2(FLNA):c.4755G>C (p.Thr1585=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3759237	NM_001110556.2(FLNA):c.6173dup (p.His2058fs)	FLNA (H2050fs +1 more)	Duplication (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3759219	NM_001110556.2(FLNA):c.2773ATC[1] (p.Ile926del)	FLNA (I926del)	Microsatellite (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3759203	NM_001110556.2(FLNA):c.2013C>T (p.His671=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 3759202	NM_001110556.2(FLNA):c.4680G>A (p.Val1560=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759026	NM_001110556.2(FLNA):c.6769+17C>G	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3759001	NM_001110556.2(FLNA):c.1567+7_1567+9dup	FLNA	Duplication (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758962	NM_001110556.2(FLNA):c.2799C>T (p.Tyr933=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758846	NM_001110556.2(FLNA):c.3654C>T (p.Thr1218=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758657	NM_001110556.2(FLNA):c.1182T>C (p.Ser394=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758595	NM_001110556.2(FLNA):c.6156C>T (p.Val2052=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758398	NM_001110556.2(FLNA):c.147C>T (p.Phe49=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758352	NM_001110556.2(FLNA):c.7317G>A (p.Leu2439=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3758190	NM_001110556.2(FLNA):c.6464A>G (p.Asn2155Ser)	FLNA (N2147S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3758162	NM_001110556.2(FLNA):c.2136+9C>G	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3757944	NM_001110556.2(FLNA):c.2405-5_2405-3del	FLNA	Microsatellite (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3757814	NM_001110556.2(FLNA):c.5313+4C>A	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3757737	NM_001110556.2(FLNA):c.1829-8G>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3757682	NM_001110556.2(FLNA):c.5687-12G>T	FLNA	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3757669	NM_001110556.2(FLNA):c.6923C>A (p.Ser2308Ter)	FLNA (S2300* +1 more)	Single nucleotide variant (nonsense)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3757632	NM_001110556.2(FLNA):c.71G>C (p.Arg24Pro)	FLNA (R24P)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3757565	NM_001110556.2(FLNA):c.2859G>A (p.Gly953=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3757381	NM_001110556.2(FLNA):c.2367C>A (p.Pro789=)	FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 3757380	NM_001110556.2(FLNA):c.2371del (p.Tyr791fs)	FLNA (Y791fs)	Deletion (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 3757363	NM_001110556.2(FLNA):c.6204dup (p.Ile2069fs)	FLNA (I2061fs +1 more)	Duplication (frameshift variant)	Oto-palato-digital syndrome, type II +3 more	GPathogenic

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