ClinVar for MedGen (Select 1163) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 2498153	NC_000001.11:g.63129955_63141504dup		Duplication	Craniosynostosis syndrome	GUncertain significance
Select item 2498151	NC_000001.11:g.12617576_12621500del	DHRS3	Deletion (genic upstream transcript variant)	Craniosynostosis syndrome	GUncertain significance
Select item 2429382	NM_001142784.3(IL11RA):c.919T>C (p.Trp307Arg)	IL11RA (W307R)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome	GPathogenic
Select item 1683716	NM_000141.5(FGFR2):c.1700C>T (p.Ala567Val)	FGFR2 (A339V +9 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +2 more	GUncertain significance
Select item 1679340	NM_014255.7(CNPY2):c.46_50del (p.Gly16fs)	CNPY2 (G16fs)	Deletion (frameshift variant)	Abnormality of the face +1 more	GLikely pathogenic
Select item 1344686	NM_001448.3(GPC4):c.455del (p.Val152fs)	GPC4 (V152fs)	Deletion (frameshift variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344685	NM_003221.4(TFAP2B):c.1144C>T (p.Arg382Ter)	TFAP2B (R382*)	Single nucleotide variant (nonsense)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344684	NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg)	TFAP2B (K276R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344683	NM_003221.4(TFAP2B):c.601+2T>A	TFAP2B	Single nucleotide variant (splice donor variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344682	NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile)	TFAP2B (M1I)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344681	NM_001903.5(CTNNA1):c.2572_2586dup (p.Ser858_Lys862dup)	CTNNA1	Duplication (3 prime UTR variant +1 more)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344680	NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr)	GLI2 (A409T +2 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344679	NM_003108.4(SOX11):c.191G>A (p.Arg64His)	SOX11 (R64H)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1344584	NM_207037.2(TCF12):c.1643_1647del (p.Glu548fs)	TCF12 (E288fs +9 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1177290	NM_000168.6(GLI3):c.368-459_473+494del	GLI3	Deletion (splice acceptor variant +1 more)	Craniosynostosis syndrome	GPathogenic
Select item 1172629	NM_001378418.1(TCF20):c.1166_1167del (p.Leu389fs)	TCF20 (L389fs)	Microsatellite (frameshift variant)	Craniosynostosis syndrome	GPathogenic
Select item 1164007	NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)	MEGF8 (S2590del +1 more)	Deletion (inframe_deletion)	Polydactyly +1 more	GLikely pathogenic
Select item 1065630	NM_000528.4(MAN2B1):c.215_216del (p.His72fs)	MAN2B1 (H72fs)	Deletion (frameshift variant)	Craniosynostosis syndrome +1 more	GPathogenic
Select item 1048586	NM_001024630.4(RUNX2):c.340G>A (p.Val114Ile)	RUNX2 (V100I +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GUncertain significance
Select item 912101	NM_023110.3(FGFR1):c.861C>T (p.Ile287=)	FGFR1	Single nucleotide variant (synonymous variant)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 912047	NM_023110.3(FGFR1):c.1553-13G>A	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +5 more	GBenign/Likely benign
Select item 911988	NM_023110.3(FGFR1):c.2272G>A (p.Val758Met)	FGFR1 (V758M +7 more)	Single nucleotide variant (missense variant)	Trigonocephaly 1 +5 more	GUncertain significance
Select item 911892	NM_023110.3(FGFR1):c.*231C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911789	NM_023110.3(FGFR1):c.*928G>A	LOC102723716, FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911717	NM_023110.3(FGFR1):c.*1055C>T	FGFR1, LOC102723716 (T770M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911588	NM_023110.3(FGFR1):c.*1723C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911406	NM_023110.3(FGFR1):c.-555G>A	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 911274	NM_023110.2(FGFR1):c.-747C>G	FGFR1	Single nucleotide variant	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911212	NM_023110.3(FGFR1):c.-552C>G	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911211	NM_023110.3(FGFR1):c.-522G>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911139	NM_023110.3(FGFR1):c.-320C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911063	NM_023110.3(FGFR1):c.-117C>G	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911062	NM_023110.3(FGFR1):c.-116C>T	FGFR1, LOC130000232	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 911004	NM_023110.3(FGFR1):c.274G>A (p.Val92Met)	FGFR1 (V125M +2 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 910877	NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala)	FGFR1 (P420A +5 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910825	NM_023110.3(FGFR1):c.1713G>A (p.Glu571=)	FGFR1	Single nucleotide variant (synonymous variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910660	NM_023110.3(FGFR1):c.*252G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910659	NM_023110.3(FGFR1):c.*262C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 910547	NM_023110.3(FGFR1):c.*957C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910486	NM_023110.3(FGFR1):c.*1086A>T	FGFR1, LOC102723716 (K691N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910485	NM_023110.3(FGFR1):c.*1124C>G	FGFR1, LOC102723716 (P704R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910427	NM_023110.3(FGFR1):c.*1446A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GUncertain significance
Select item 910248	NM_023110.3(FGFR1):c.-278C>A	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 910181	NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu)	FGFR1 (P56L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +5 more	GConflicting classifications of pathogenicity
Select item 909924	NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro)	FGFR1 (R586P +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 909923	NM_023110.3(FGFR1):c.2187-14C>T	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 909875	NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu)	FGFR1 (P707L +6 more)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 909809	NM_023110.3(FGFR1):c.*112C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +7 more	GUncertain significance
Select item 909679	NM_023110.3(FGFR1):c.*802C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909678	NM_023110.3(FGFR1):c.*819T>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909616	NM_023110.3(FGFR1):c.*991G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GUncertain significance
Select item 909558	NM_023110.3(FGFR1):c.*1149G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909426	NM_023110.3(FGFR1):c.*1823G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909349	NM_023110.3(FGFR1):c.*2408C>T	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909278	NM_023110.3(FGFR1):c.-741A>G	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909277	NM_023110.3(FGFR1):c.-717C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909211	NM_023110.3(FGFR1):c.-466C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 909210	NM_023110.3(FGFR1):c.-444C>T	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 909011	NM_023110.3(FGFR1):c.2451C>T (p.Gly817=)	FGFR1	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 908949	NM_023110.3(FGFR1):c.*203G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteoglophonic dysplasia +3 more	GUncertain significance
Select item 908948	NM_023110.3(FGFR1):c.*212G>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908882	NM_023110.3(FGFR1):c.*345T>A	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908881	NM_023110.3(FGFR1):c.*391C>T	FGFR1	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908760	NM_023110.3(FGFR1):c.*994T>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant +1 more)	Trigonocephaly 1 +4 more	GBenign
Select item 908639	NM_023110.3(FGFR1):c.*1676G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908638	NM_023110.3(FGFR1):c.*1711G>A	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908569	NM_023110.3(FGFR1):c.*1982A>C	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 908502	NM_023110.2(FGFR1):c.-849C>A	FGFR1	Single nucleotide variant	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908501	NM_023110.2(FGFR1):c.-755C>G	FGFR1	Single nucleotide variant	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908500	NM_023110.3(FGFR1):c.*2445A>G	FGFR1, LOC102723716	Single nucleotide variant (3 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908431	NM_023110.3(FGFR1):c.-578A>C	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +4 more	GConflicting classifications of pathogenicity
Select item 908362	NM_023110.3(FGFR1):c.-434G>A	FGFR1	Single nucleotide variant (5 prime UTR variant)	Trigonocephaly 1 +3 more	GUncertain significance
Select item 908361	NM_023110.3(FGFR1):c.-413G>A	FGFR1	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908295	NM_023110.3(FGFR1):c.-263G>C	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GUncertain significance
Select item 908294	NM_023110.3(FGFR1):c.-209G>C	FGFR1, LOC130000233	Single nucleotide variant (5 prime UTR variant)	Craniosynostosis syndrome +3 more	GBenign/Likely benign
Select item 908232	NM_023110.3(FGFR1):c.92-3C>T	FGFR1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +3 more	GUncertain significance
Select item 908096	NM_023110.3(FGFR1):c.741C>T (p.Val247=)	FGFR1	Single nucleotide variant (synonymous variant)	Craniosynostosis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 880347	NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)	FGFR2 (D293G +9 more)	Single nucleotide variant (missense variant +1 more)	Saethre-Chotzen syndrome +5 more	GConflicting classifications of pathogenicity
Select item 880311	NM_000141.5(FGFR2):c.2045A>G (p.His682Arg)	FGFR2 (H594R +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 880262	NM_000141.5(FGFR2):c.*256G>A	FGFR2 (V702I)	Single nucleotide variant (3 prime UTR variant +2 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 879946	NM_000141.5(FGFR2):c.-603C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 879901	NM_000141.5(FGFR2):c.-237C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 879853	NM_000141.5(FGFR2):c.-173G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 879767	NM_000141.5(FGFR2):c.33C>T (p.Val11=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +5 more	GConflicting classifications of pathogenicity
Select item 879590	NM_000141.5(FGFR2):c.-590G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance
Select item 879439	NM_000141.5(FGFR2):c.-61G>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +5 more	GBenign/Likely benign
Select item 879382	NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser)	FGFR2 (T31S)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 879194	NM_000141.5(FGFR2):c.1485G>T (p.Val495=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Crouzon syndrome +4 more	GUncertain significance
Select item 878994	NM_000141.5(FGFR2):c.*730G>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 878945	NM_000141.5(FGFR2):c.*1240A>C	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 878944	NM_000141.5(FGFR2):c.*1283C>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +4 more	GUncertain significance
Select item 878757	NM_000141.5(FGFR2):c.454+14C>T	FGFR2	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 878704	NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)	FGFR2 (L143F +3 more)	Single nucleotide variant (missense variant +2 more)	Isolated coronal synostosis +13 more	GUncertain significance
Select item 878653	NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 878403	NM_000141.5(FGFR2):c.*874A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 878309	NM_000141.4(FGFR2):c.*1539C>A	FGFR2	Single nucleotide variant	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 877977	NM_000141.5(FGFR2):c.-17G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Crouzon syndrome +12 more	GUncertain significance
Select item 877915	NM_000141.5(FGFR2):c.-206C>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Craniosynostosis syndrome +4 more	GUncertain significance
Select item 877914	NM_000141.5(FGFR2):c.-196G>A	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Saethre-Chotzen syndrome +4 more	GUncertain significance

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