C0025237[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213498	NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)	FLNA, LOC107988032	Deletion (frameshift variant)	Oto-palato-digital syndrome, type II +4 more	GPathogenic
Select item 405443	NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del)	FLNA, LOC107988032 (V2638del +1 more)	Deletion (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2942370	NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)	FLNA, LOC107988032 (V2636L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 516076	NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GBenign/Likely benign
Select item 1385334	NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro)	FLNA, LOC107988032 (R2643P +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1020536	NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His)	FLNA, LOC107988032 (R2635H +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 1391252	NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly)	FLNA, LOC107988032 (R2635G +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 213511	NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)	FLNA, LOC107988032 (R2635C +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GConflicting classifications of pathogenicity
Select item 533563	NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile)	FLNA, LOC107988032 (S2640I +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2179546	NM_001110556.2(FLNA):c.7908C>T (p.His2636=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 208878	NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	FLNA, LOC107988032 (E2635K +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 509524	NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1895821	NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr)	FLNA, LOC107988032 (D2634Y +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 533571	NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His)	FLNA, LOC107988032 (D2634H +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 213497	NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del)	LOC107988032, FLNA (G2625del +1 more)	Deletion (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GConflicting classifications of pathogenicity
Select item 2938012	NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1376875	NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys)	FLNA, LOC107988032 (W2624C +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2936395	NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)	FLNA, LOC107988032 (W2624L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 1574618	NM_001110556.2(FLNA):c.7887G>A (p.Val2629=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 2184072	NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)	FLNA, LOC107988032 (T2619R +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 197561	NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GConflicting classifications of pathogenicity
Select item 652215	NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)	LOC107988032, FLNA (E2625fs +1 more)	Deletion (frameshift variant)	Frontometaphyseal dysplasia +3 more	GPathogenic
Select item 2951884	NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)	FLNA, LOC107988032 (G2616A +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2202280	NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 964481	NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)	FLNA, LOC107988032 (K2621R +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 2947166	NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1541277	NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2009796	NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 387163	NM_001110556.2(FLNA):c.7848G>C (p.Val2616=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +5 more	GLikely benign
Select item 1700827	NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala)	FLNA, LOC107988032 (V2608A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 638848	NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)	FLNA, LOC107988032 (V2616M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 952392	NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)	FLNA, LOC107988032 (S2607G +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2182355	NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val)	FLNA, LOC107988032 (L2613V +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 589920	NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln)	FLNA, LOC107988032 (R2604Q +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GLikely benign
Select item 1524454	NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	FLNA, LOC107988032 (R2612W +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GConflicting classifications of pathogenicity
Select item 705286	NM_001110556.2(FLNA):c.7824C>T (p.His2608=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 413396	NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr)	FLNA, LOC107988032 (H2608Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 465025	NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs)	FLNA, LOC107988032 (V2598fs +1 more)	Deletion (frameshift variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1760573	NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 405458	NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr)	FLNA, LOC107988032 (C2601Y +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GUncertain significance
Select item 1396399	NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr)	FLNA, LOC107988032 (P2592T +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 264331	NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)	FLNA, LOC107988032 (T2591N +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GConflicting classifications of pathogenicity
Select item 197562	NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GConflicting classifications of pathogenicity
Select item 2194112	NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)	FLNA, LOC107988032 (R2590K +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2941662	NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)	FLNA, LOC107988032 (P2597S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 655782	NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)	FLNA, LOC107988032 (H2587P +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 453200	NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)	FLNA, LOC107988032 (V2586fs +1 more)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2930448	NM_001110556.2(FLNA):c.7779G>T (p.Gly2593=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 386095	NM_001110556.2(FLNA):c.7776G>C (p.Val2592=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +6 more	GLikely benign
Select item 854776	NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del)	FLNA, LOC107988032 (L2583del +1 more)	Microsatellite (inframe_deletion)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely pathogenic
Select item 2930638	NM_001110556.2(FLNA):c.7761C>T (p.Asn2587=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2109071	NM_001110556.2(FLNA):c.7757-5C>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 1447290	NM_001110556.2(FLNA):c.7757-5del	FLNA, LOC107988032	Deletion (intron variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 2938638	NM_001110556.2(FLNA):c.7757-15C>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 385877	NM_001110556.2(FLNA):c.7757-16A>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 2932191	NM_001110556.2(FLNA):c.7757-20G>C	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1600863	NM_001110556.2(FLNA):c.7756+20G>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 387162	NM_001110556.2(FLNA):c.7756+20G>A	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +4 more	GBenign/Likely benign
Select item 390859	NM_001110556.2(FLNA):c.7756+19C>T	FLNA, LOC107988032	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1570463	NM_001110556.2(FLNA):c.7756+12G>A	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 93775	NM_001110556.2(FLNA):c.7756+11=	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Heterotopia, periventricular, X-linked dominant +4 more	GBenign
Select item 167075	NM_001110556.2(FLNA):c.7756+8A>G	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Connective tissue disorder +12 more	GBenign/Likely benign
Select item 2950660	NM_001110556.2(FLNA):c.7756+6C>A	FLNA, LOC107988032	Single nucleotide variant (intron variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2943911	NM_001110556.2(FLNA):c.7756+2T>A	FLNA, LOC107988032	Single nucleotide variant (splice donor variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 1954588	NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)	FLNA, LOC107988032 (V2580A +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 533587	NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)	FLNA, LOC107988032 (V2580I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 519891	NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 2926854	NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)	FLNA, LOC107988032 (V2564A +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 852481	NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)	FLNA, LOC107988032 (V2564I +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +4 more	GBenign/Likely benign
Select item 516075	NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1164732	NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GBenign/Likely benign
Select item 197542	NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 2034539	NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)	FLNA, LOC107988032 (V2560A +1 more)	Single nucleotide variant (missense variant)	FG syndrome 2 +5 more	GUncertain significance
Select item 1654614	NM_001110556.2(FLNA):c.7677G>A (p.Lys2559=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 2953556	NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)	FLNA, LOC107988032 (S2550K +1 more)	Indel (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 93774	NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +4 more	GConflicting classifications of pathogenicity
Select item 1138343	NM_001110556.2(FLNA):c.7668C>T (p.Asp2556=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 1563245	NM_001110556.2(FLNA):c.7665T>C (p.Ala2555=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2948115	NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)	FLNA, LOC107988032 (A2547V +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 405452	NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr)	FLNA, LOC107988032 (P2554T +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 699556	NM_001110556.2(FLNA):c.7659G>C (p.Gly2553=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 847173	NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +4 more	GLikely benign
Select item 533564	NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu)	FLNA, LOC107988032 (P2552L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 2926289	NM_001110556.2(FLNA):c.7653T>G (p.Gly2551=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1354317	NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg)	LOC107988032, FLNA (G2543R +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GBenign
Select item 516305	NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GBenign/Likely benign
Select item 213487	NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)	FLNA, LOC107988032 (P2542L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +6 more	GConflicting classifications of pathogenicity
Select item 512188	NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)	FLNA, LOC107988032 (A2541S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1669616	NM_001110556.2(FLNA):c.7644G>A (p.Gly2548=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 379886	NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg)	FLNA, LOC107988032 (Q2538R +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GConflicting classifications of pathogenicity
Select item 2942589	NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)	FLNA, LOC107988032 (Q2546* +1 more)	Single nucleotide variant (nonsense)	Oto-palato-digital syndrome, type II +3 more	GPathogenic
Select item 2087779	NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)	FLNA, LOC107988032 (Q2538E +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1493475	NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu)	FLNA, LOC107988032 (P2537L +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2195506	NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)	FLNA, LOC107988032 (P2545A +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 2163794	NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)	FLNA, LOC107988032 (A2536D +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 1388776	NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser)	FLNA, LOC107988032 (A2544S +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2107975	NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)	FLNA, LOC107988032 (C2543F +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 392335	NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)	FLNA, LOC107988032 (C2535Y +1 more)	Single nucleotide variant (missense variant)	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +12 more	GConflicting classifications of pathogenicity
Select item 1759675	NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)	FLNA, LOC107988032 (A2533V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 2145919	NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)	FLNA, LOC107988032 (T2531I +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance

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