ClinVar for MedGen (Select 422448) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1673614	NM_000141.5(FGFR2):c.1987-20A>T	FGFR2	Single nucleotide variant (intron variant)	Jackson-Weiss syndrome +11 more	GLikely benign
Select item 1584653	NM_000141.5(FGFR2):c.1335G>T (p.Val445=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1555692	NM_000141.5(FGFR2):c.454+15G>A	FGFR2	Single nucleotide variant (intron variant)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1525168	NM_000141.5(FGFR2):c.182G>A (p.Arg61His)	FGFR2 (R61H)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GConflicting classifications of pathogenicity
Select item 1506367	NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val)	FGFR2 (A134V +6 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1482755	NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu)	FGFR2 (P328L +9 more)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome +11 more	GUncertain significance
Select item 1472554	NM_001395413.1(POR):c.1465G>A (p.Val489Met)	POR (V439M +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GUncertain significance
Select item 1464298	NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr)	FGFR2 (A302T +6 more)	Single nucleotide variant (missense variant +2 more)	Jackson-Weiss syndrome +11 more	GUncertain significance
Select item 1415015	NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro)	FGFR2 (L581P +8 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GConflicting classifications of pathogenicity
Select item 1412875	NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser)	FGFR2 (N546S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GUncertain significance
Select item 1405328	NM_001395413.1(POR):c.723-2A>T	POR	Single nucleotide variant (splice acceptor variant)	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis +2 more	GPathogenic
Select item 1401323	NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)	POR (G433S +2 more)	Inversion (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GUncertain significance
Select item 1373931	NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu)	FGFR2 (P298L +6 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome +11 more	GUncertain significance
Select item 1372714	NM_000141.5(FGFR2):c.877C>T (p.His293Tyr)	FGFR2 (H204Y +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 1336625	NM_001395413.1(POR):c.1577C>T (p.Thr526Met)	POR (T476M +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +3 more	GUncertain significance
Select item 1328666	NM_000141.5(FGFR2):c.1155C>G (p.Val385=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Beare-Stevenson cutis gyrata syndrome +12 more	GLikely benign
Select item 1318925	NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA	FGFR2	Indel (intron variant)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1317030	NM_000141.5(FGFR2):c.2077A>G (p.Met693Val)	FGFR2 (M465V +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +11 more	GUncertain significance
Select item 1316322	NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)	FGFR2 (G146R +3 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome +11 more	GUncertain significance
Select item 1316125	NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp)	FGFR2 (G96D)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GUncertain significance
Select item 1254698	NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)	POR (Y554C +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +4 more	GLikely pathogenic
Select item 1193382	NM_000141.5(FGFR2):c.362T>C (p.Met121Thr)	FGFR2 (M121T)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GUncertain significance
Select item 1091719	NM_000141.5(FGFR2):c.1746C>T (p.Pro582=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 1079179	NM_000141.5(FGFR2):c.1356T>A (p.Ser452=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 1062590	NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs)	FGFR2 (I587fs +8 more)	Deletion (frameshift variant +2 more)	Jackson-Weiss syndrome +11 more	GUncertain significance
Select item 1052478	NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys)	FGFR2 (R222C +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GUncertain significance
Select item 1000825	NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu)	FGFR2 (P148L +3 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 1000813	NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys)	FGFR2 (R6C)	Single nucleotide variant (missense variant +1 more)	Acrocephalosyndactyly type I +12 more	GConflicting classifications of pathogenicity
Select item 964516	NM_000141.5(FGFR2):c.1561+6C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GUncertain significance
Select item 931843	NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly)	FGFR2 (A638G +9 more)	Single nucleotide variant (missense variant +1 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	GUncertain significance
Select item 931219	NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln)	FGFR2 (E601Q +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	GUncertain significance
Select item 911635	NM_001395413.1(POR):c.1208G>A (p.Arg403His)	POR (R403H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 910469	NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)	POR (S519L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 910356	NM_001395413.1(POR):c.311G>A (p.Arg104His)	POR (R104H +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GUncertain significance
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 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 767470	NM_000141.5(FGFR2):c.1545C>T (p.Ala515=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +11 more	GLikely benign
Select item 767266	NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp)	FGFR2 (R22W)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome +11 more	GBenign/Likely benign
Select item 724975	NM_000141.5(FGFR2):c.1761C>T (p.Ser587=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Beare-Stevenson cutis gyrata syndrome +12 more	GBenign/Likely benign
Select item 720445	NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not provided +12 more	GBenign/Likely benign
Select item 707001	NM_000141.5(FGFR2):c.390C>G (p.Ser130=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 703147	NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +12 more	GLikely benign
Select item 591392	NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)	FGFR2 (R579W +9 more)	Single nucleotide variant (missense variant +1 more)	Beare-Stevenson cutis gyrata syndrome +10 more	GUncertain significance
Select item 577711	NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)	FGFR2 (R330Q +3 more)	Single nucleotide variant (missense variant +2 more)	Saethre-Chotzen syndrome +14 more	GConflicting classifications of pathogenicity
Select item 566306	NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn)	FGFR2 (D304N +3 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GUncertain significance
Select item 514591	NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Crouzon syndrome +12 more	GLikely benign
Select item 511482	NM_000141.5(FGFR2):c.420G>A (p.Ala140=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Crouzon syndrome +12 more	GLikely benign
Select item 497484	NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)	FGFR2 (A97T)	Single nucleotide variant (missense variant +1 more)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 478046	NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)	FGFR2 (G384R +6 more)	Single nucleotide variant (missense variant +2 more)	Acrocephalosyndactyly type I +11 more	GPathogenic
Select item 469120	NM_001395413.1(POR):c.205T>C (p.Phe69Leu)	POR (F69L +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency +2 more	GUncertain significance
Select item 449024	NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys)	FGFR2 (Y105C)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 383647	NM_000141.5(FGFR2):c.1986+7C>T	FGFR2	Single nucleotide variant (intron variant)	Levy-Hollister syndrome +12 more	GBenign/Likely benign
Select item 374823	NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)	FGFR2 (E565G +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GPathogenic/Likely pathogenic
Select item 374817	NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	FGFR2 (G338E +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +11 more	GPathogenic/Likely pathogenic
Select item 374808	NM_000141.5(FGFR2):c.138A>C (p.Gln46His)	FGFR2 (Q46H)	Single nucleotide variant (missense variant +1 more)	FGFR2-related craniosynostosis +12 more	GConflicting classifications of pathogenicity
Select item 298977	NM_000141.5(FGFR2):c.*1369C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Acrocephalosyndactyly type I +12 more	GUncertain significance
Select item 135548	NM_000141.5(FGFR2):c.748+18C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +11 more	GLikely benign
Select item 134386	NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)	FGFR2 (R6P)	Single nucleotide variant (missense variant +1 more)	not provided +15 more	GBenign
Select item 16910	NM_001395413.1(POR):c.1320dup (p.Ile441fs)	POR (I441fs +1 more)	Duplication (frameshift variant +1 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +3 more	GPathogenic/Likely pathogenic
Select item 16907	NM_001395413.1(POR):c.1361G>A (p.Arg454His)	POR (R454H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 13293	NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic
Select item 13289	NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)	FGFR2 (A315S +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic
Select item 13286	NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	FGFR2 (S351C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic
Select item 13277	NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	FGFR2 (Y375C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 13273	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	FGFR2 (P253R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic/Likely pathogenic
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +13 more	GPathogenic
Select item 13268	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +15 more	GPathogenic
Select item 13267	NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)	FGFR2 (C342S +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 13266	NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)	FGFR2 (C342R +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +3 more	GPathogenic
Select item 13263	NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)	FGFR2 (C342Y +3 more)	Single nucleotide variant (missense variant +2 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +13 more	GPathogenic/Likely pathogenic

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