"PreventionGenetics, part of Exact Sciences"[submitter] AND "FGFR2"[ge - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058285	NM_000141.5(FGFR2):c.*282A>G	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	FGFR2-related disorder	GLikely benign
Select item 880262	NM_000141.5(FGFR2):c.*256G>A	FGFR2 (V702I)	Single nucleotide variant (3 prime UTR variant +2 more)	Isolated coronal synostosis +5 more	GUncertain significance
Select item 3054639	NM_000141.5(FGFR2):c.*255C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +2 more)	FGFR2-related disorder	GLikely benign
Select item 2631649	NM_000141.5(FGFR2):c.2415C>A (p.Tyr805Ter)	FGFR2 (Y577* +8 more)	Single nucleotide variant (nonsense +2 more)	FGFR2-related disorder	GUncertain significance
Select item 1168728	NM_000141.5(FGFR2):c.2328C>T (p.Leu776=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder +2 more	GBenign/Likely benign
Select item 3047978	NM_000141.5(FGFR2):c.2301+1512dup	FGFR2	Duplication (intron variant)	FGFR2-related disorder	GLikely benign
Select item 255317	NM_000141.5(FGFR2):c.2301+15C>T	FGFR2	Single nucleotide variant (intron variant)	Craniosynostosis syndrome +6 more	GBenign
Select item 514067	NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Isolated coronal synostosis +7 more	GConflicting classifications of pathogenicity
Select item 298997	NM_000141.5(FGFR2):c.2001C>G (p.Val667=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis syndrome +7 more	GBenign/Likely benign
Select item 383647	NM_000141.5(FGFR2):c.1986+7C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related disorder +13 more	GBenign/Likely benign
Select item 661397	NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn)	FGFR2 (K542N +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 3054855	NM_000141.5(FGFR2):c.1949A>G (p.Asp650Gly)	FGFR2 (D422G +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related disorder	GUncertain significance
Select item 255316	NM_000141.5(FGFR2):c.1941C>T (p.Leu647=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +7 more	GBenign
Select item 703147	NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Acrocephalosyndactyly type I +13 more	GLikely benign
Select item 255315	NM_000141.5(FGFR2):c.1864-17T>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +2 more	GBenign
Select item 1091719	NM_000141.5(FGFR2):c.1746C>T (p.Pro582=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related disorder +12 more	GLikely benign
Select item 2717143	NM_000141.5(FGFR2):c.1716C>T (p.Leu572=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related craniosynostosis +1 more	GLikely benign
Select item 13294	NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	FGFR2 (E565A +9 more)	Single nucleotide variant (missense variant +1 more)	Pfeiffer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2962540	NM_000141.5(FGFR2):c.1673-8C>T	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +1 more	GLikely benign
Select item 3048729	NM_000141.5(FGFR2):c.1431A>G (p.Pro477=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related disorder	GLikely benign
Select item 864431	NM_000141.5(FGFR2):c.1361C>T (p.Thr454Met)	FGFR2 (T226M +9 more)	Single nucleotide variant (missense variant +1 more)	FGFR2-related disorder +1 more	GLikely benign
Select item 299003	NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 29856	NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)	FGFR2 (Y381D +6 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)	Beare-Stevenson cutis gyrata syndrome +13 more	GPathogenic/Likely pathogenic
Select item 514591	NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder +13 more	GLikely benign
Select item 2136936	NM_000141.5(FGFR2):c.1084+1G>A	FGFR2	Single nucleotide variant (splice donor variant +1 more)	FGFR2-related craniosynostosis +1 more	GPathogenic
Select item 1406374	NM_000141.5(FGFR2):c.1070T>C (p.Leu357Ser)	FGFR2 (L129S +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder +1 more	GPathogenic
Select item 255313	NM_000141.5(FGFR2):c.1011T>C (p.Ala337=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1961223	NM_000141.5(FGFR2):c.940-4C>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +1 more	GLikely benign
Select item 3046133	NM_022970.4(FGFR2):c.1067C>G (p.Thr356Ser)	FGFR2 (T267S +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder	GUncertain significance
Select item 3025350	NM_022970.4(FGFR2):c.1035T>C (p.Tyr345=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3029645	NM_022970.4(FGFR2):c.1008G>C (p.Gly336=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder	GLikely benign
Select item 3042515	NM_022970.4(FGFR2):c.993C>T (p.Thr331=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder	GLikely benign
Select item 3030519	NM_022970.4(FGFR2):c.942C>T (p.His314=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder	GLikely benign
Select item 3061415	NM_000141.5(FGFR2):c.857_877del (p.Pro286_Lys292del)	FGFR2	Deletion (inframe deletion +3 more)	FGFR2-related disorder	GUncertain significance
Select item 13281	NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	Aural atresia, congenital +2 more	GPathogenic
Select item 3029741	NM_000141.5(FGFR2):c.855G>A (p.Gln285=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder	GLikely benign
Select item 374811	NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys)	FGFR2 (Y281C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely pathogenic
Select item 255320	NM_000141.5(FGFR2):c.831C>T (p.Val277=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3031460	NM_000141.5(FGFR2):c.820G>A (p.Val274Ile)	FGFR2 (V159I +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related disorder	GUncertain significance
Select item 706415	NM_000141.5(FGFR2):c.789G>A (p.Pro263=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder +2 more	GBenign/Likely benign
Select item 772255	NM_000141.5(FGFR2):c.780C>T (p.Ala260=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	FGFR2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 13273	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	FGFR2 (P253R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 549484	NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)	FGFR2 (S252L +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +4 more	GConflicting classifications of pathogenicity
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	Pfeiffer syndrome +13 more	GPathogenic
Select item 2634723	NM_000141.5(FGFR2):c.749-6576T>G	FGFR2 (L3*)	Single nucleotide variant (nonsense +1 more)	FGFR2-related disorder	GUncertain significance
Select item 3045175	NM_000141.5(FGFR2):c.749-6590C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	FGFR2-related disorder	GLikely benign
Select item 255319	NM_000141.5(FGFR2):c.696A>G (p.Val232=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Craniosynostosis syndrome +6 more	GBenign
Select item 299007	NM_000141.5(FGFR2):c.625-10A>G	FGFR2	Single nucleotide variant (intron variant)	Craniosynostosis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 134392	NM_000141.5(FGFR2):c.557T>C (p.Met186Thr)	FGFR2 (M186T +2 more)	Single nucleotide variant (missense variant +1 more)	Isolated coronal synostosis +7 more	GBenign
Select item 1096635	NM_000141.5(FGFR2):c.543C>T (p.Ala181=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	FGFR2-related disorder +1 more	GLikely benign
Select item 255318	NM_000141.5(FGFR2):c.309C>A (p.Gly103=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 196217	NM_000141.5(FGFR2):c.294G>A (p.Thr98=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Saethre-Chotzen syndrome +7 more	GBenign/Likely benign
Select item 877763	NM_000141.5(FGFR2):c.201C>T (p.Ala67=)	FGFR2	Single nucleotide variant (synonymous variant +1 more)	Isolated coronal synostosis +6 more	GConflicting classifications of pathogenicity
Select item 134390	NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)	FGFR2 (S57L)	Single nucleotide variant (missense variant +1 more)	Isolated coronal synostosis +7 more	GBenign/Likely benign
Select item 255314	NM_000141.5(FGFR2):c.109+10T>G	FGFR2	Single nucleotide variant (intron variant)	FGFR2-related craniosynostosis +7 more	GBenign/Likely benign
Select item 134387	NM_000141.5(FGFR2):c.34G>A (p.Val12Met)	FGFR2 (V12M)	Single nucleotide variant (missense variant +1 more)	FGFR2-related disorder +2 more	GBenign/Likely benign
Select item 134388	NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)	FGFR2 (I8S)	Single nucleotide variant (missense variant +1 more)	Isolated coronal synostosis +8 more	GConflicting classifications of pathogenicity
Select item 3044916	NM_000141.5(FGFR2):c.-7C>T	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	FGFR2-related disorder	GLikely benign

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Items: 59