ClinVar for MedGen (Select 152917) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338535	NM_014491.4(FOXP2):c.1234C>T (p.Arg412Ter)	FOXP2 (R411* +3 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 3336616	NM_014491.4(FOXP2):c.775+1G>C	FOXP2	Single nucleotide variant (splice donor variant)	Childhood apraxia of speech	GPathogenic
Select item 3254775	NM_014491.4(FOXP2):c.1418G>A (p.Gly473Glu)	FOXP2 (G381E +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 2689089	NM_014491.4(FOXP2):c.1794A>G (p.Ile598Met)	FOXP2 (I506M +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 2570655	NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)	FOXP2 (W481* +4 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 2441553	NM_014491.4(FOXP2):c.1657C>T (p.Arg553Cys)	FOXP2 (R461C +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 2441552	NM_014491.4(FOXP2):c.1276G>T (p.Val426Leu)	FOXP2 (V334L +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech +1 more	GUncertain significance
Select item 2441551	NM_014491.4(FOXP2):c.693G>T (p.Gln231His)	FOXP2 (Q230H +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 2441550	NM_014491.4(FOXP2):c.361C>T (p.Leu121Phe)	FOXP2 (L121F +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 1710219	NM_014491.4(FOXP2):c.1540del (p.Arg514fs)	FOXP2 (R513fs +3 more)	Deletion (frameshift variant +1 more)	Childhood apraxia of speech	GPathogenic
Select item 1710171	NM_014491.4(FOXP2):c.1661A>G (p.His554Arg)	FOXP2 (H462R +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 1699016	NM_014491.4(FOXP2):c.258+36173G>A	FOXP2 (A111T)	Single nucleotide variant (missense variant +2 more)	Childhood apraxia of speech	GUncertain significance
Select item 1695208	NM_014491.4(FOXP2):c.1264C>T (p.Pro422Ser)	FOXP2 (P421S +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech +1 more	GConflicting classifications of pathogenicity
Select item 1334070	NM_014491.4(FOXP2):c.962C>T (p.Ser321Phe)	FOXP2 (S320F +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 1199227	NM_014491.4(FOXP2):c.1050G>A (p.Trp350Ter)	FOXP2 (W349* +3 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 1184418	NM_014491.4(FOXP2):c.258+15661C>T	FOXP2	Single nucleotide variant (intron variant)	Childhood apraxia of speech	GUncertain significance
Select item 1119990	NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter)	FOXP2 (R563* +3 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech +1 more	GPathogenic
Select item 1119989	NM_014491.4(FOXP2):c.1614del (p.Phe538fs)	FOXP2 (F537fs +3 more)	Deletion (frameshift variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119988	NM_014491.4(FOXP2):c.1607G>C (p.Arg536Pro)	FOXP2 (R535P +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119987	NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr)	FOXP2 (M405T +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119986	NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu)	FOXP2 (P504L +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	Gnot provided
Select item 1119985	NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter)	FOXP2 (R477* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1098279	NM_014491.4(FOXP2):c.559C>T (p.Gln187Ter)	FOXP2 (Q187* +2 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GPathogenic
Select item 1065476	NM_014491.4(FOXP2):c.586C>T (p.Gln196Ter)	FOXP2 (Q196* +2 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GPathogenic
Select item 1031834	NM_014491.4(FOXP2):c.131T>C (p.Val44Ala)	FOXP2 (V44A)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 1031832	NM_014491.4(FOXP2):c.11A>G (p.Glu4Gly)	FOXP2 (E4G)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 1029279	NM_014491.4(FOXP2):c.1352C>T (p.Thr451Met)	FOXP2 (T450M +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 911912	NM_014491.4(FOXP2):c.*2261T>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 911851	NM_014491.4(FOXP2):c.*276A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 911850	NM_014491.4(FOXP2):c.*107A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 911849	NM_014491.4(FOXP2):c.*96A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 911807	NM_014491.4(FOXP2):c.447G>C (p.Gln149His)	FOXP2 (Q149H +2 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 911806	NM_014491.4(FOXP2):c.258+13C>G	FOXP2	Single nucleotide variant (intron variant)	Childhood apraxia of speech	GUncertain significance
Select item 911805	NM_014491.4(FOXP2):c.165G>A (p.Gln55=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 911804	NM_014491.4(FOXP2):c.124T>C (p.Ser42Pro)	FOXP2 (S42P)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 910629	NM_014491.4(FOXP2):c.1569G>A (p.Arg523=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 910571	NM_014491.4(FOXP2):c.-14G>T	FOXP2	Single nucleotide variant (5 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 910570	NM_014491.4(FOXP2):c.-290A>C	FOXP2	Single nucleotide variant (5 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909846	NM_014491.4(FOXP2):c.*3414G>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909776	NM_014491.4(FOXP2):c.*1598G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909775	NM_014491.4(FOXP2):c.*1585T>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909774	NM_014491.4(FOXP2):c.*1415A>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909773	NM_014491.4(FOXP2):c.*1222G>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909772	NM_014491.4(FOXP2):c.*998A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 909705	NM_014491.4(FOXP2):c.1441G>A (p.Asp481Asn)	FOXP2 (D481N +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GBenign
Select item 909704	NM_014491.4(FOXP2):c.1344C>T (p.Thr448=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 909703	NM_014491.4(FOXP2):c.989+6T>A	FOXP2	Single nucleotide variant (intron variant)	Childhood apraxia of speech	GUncertain significance
Select item 908975	NM_014491.4(FOXP2):c.*2922T>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 908974	NM_014491.4(FOXP2):c.*2571C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 908973	NM_014491.4(FOXP2):c.*2449A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 908907	NM_014491.4(FOXP2):c.*686A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 908906	NM_014491.4(FOXP2):c.*366G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 908850	NM_014491.4(FOXP2):c.892T>G (p.Ser298Ala)	FOXP2 (S298A +3 more)	Single nucleotide variant (missense variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 908849	NM_014491.4(FOXP2):c.522A>G (p.Gln174=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Childhood apraxia of speech	GBenign
Select item 807606	NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter)	FOXP2 (Q210* +2 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GPathogenic
Select item 792882	NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser)	FOXP2 (N645S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 619976	NM_014491.4(FOXP2):c.774A>G (p.Gln258=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 617844	NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)	ZGRF1 (L48M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 617843	NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)	ZGRF1 (E1363K +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 617842	NM_004934.5(CDH18):c.991T>C (p.Leu331=)	CDH18	Single nucleotide variant (synonymous variant)	Childhood apraxia of speech	GUncertain significance
Select item 617625	NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter)	FOXP2 (R475* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 589674	NM_014491.4(FOXP2):c.1856G>A (p.Ser619Asn)	FOXP2 (S619N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588953	NM_014491.4(FOXP2):c.1431G>A (p.Arg477=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	Childhood apraxia of speech +1 more	GBenign/Likely benign
Select item 588565	NM_014491.4(FOXP2):c.1371T>C (p.Ile457=)	FOXP2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 449028	NM_014491.4(FOXP2):c.598-1G>C	FOXP2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431153	NM_014491.4(FOXP2):c.1769+2T>C	FOXP2	Single nucleotide variant (splice donor variant)	Childhood apraxia of speech	GLikely pathogenic
Select item 358676	NM_014491.4(FOXP2):c.*3822C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech +1 more	GBenign
Select item 358675	NM_014491.4(FOXP2):c.*3749C>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358674	NM_014491.4(FOXP2):c.*3736C>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358673	NM_014491.4(FOXP2):c.*3683C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 358672	NM_014491.4(FOXP2):c.*3643T>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358671	NM_014491.4(FOXP2):c.*3624T>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358670	NM_014491.4(FOXP2):c.*3608A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358669	NM_014491.4(FOXP2):c.*3563C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358668	NM_014491.4(FOXP2):c.*3517T>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358667	NM_014491.4(FOXP2):c.*3466G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358666	NM_014491.4(FOXP2):c.*3457G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358665	NM_014491.4(FOXP2):c.*3423C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358664	NM_014491.4(FOXP2):c.3279_3280dup	FOXP2	Duplication (3 prime UTR variant +1 more)	Childhood apraxia of speech	GLikely benign
Select item 358663	NM_014491.4(FOXP2):c.*3235T>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358662	NM_014491.4(FOXP2):c.*3220A>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358661	NM_014491.4(FOXP2):c.*3199G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358660	NM_014491.4(FOXP2):c.*2970T>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358659	NM_014491.4(FOXP2):c.*2965T>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358658	NM_014491.4(FOXP2):c.*2818G>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech +1 more	GBenign
Select item 358657	NM_014491.4(FOXP2):c.*2558A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358656	NM_014491.4(FOXP2):c.*2489A>C	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358655	NM_014491.4(FOXP2):c.*2302G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GLikely benign
Select item 358654	NM_014491.4(FOXP2):c.*2265G>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech +1 more	GBenign
Select item 358653	NM_014491.4(FOXP2):c.*2253A>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 358652	NM_014491.4(FOXP2):c.*2191C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358651	NM_014491.4(FOXP2):c.*2082A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 358650	NM_014491.4(FOXP2):c.*2029A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 358649	NM_014491.4(FOXP2):c.*2018A>G	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358648	NM_014491.4(FOXP2):c.*2030del	FOXP2	Deletion (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358647	NM_014491.4(FOXP2):c.*2017G>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358646	NM_014491.4(FOXP2):c.*2017del	FOXP2	Deletion (3 prime UTR variant +1 more)	Childhood apraxia of speech	GLikely benign
Select item 358645	NM_014491.4(FOXP2):c.*1969T>A	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GBenign
Select item 358644	NM_014491.4(FOXP2):c.*1964C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance
Select item 358643	NM_014491.4(FOXP2):c.*1947C>T	FOXP2	Single nucleotide variant (3 prime UTR variant +1 more)	Childhood apraxia of speech	GUncertain significance

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