C0795998[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 362891	NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)	FGFR1 (R822H +6 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +8 more	GUncertain significance
Select item 362893	NM_023110.3(FGFR1):c.2262G>A (p.Leu754=)	FGFR1	Single nucleotide variant (synonymous variant)	Encephalocraniocutaneous lipomatosis +8 more	GBenign
Select item 362901	NM_023110.3(FGFR1):c.600C>T (p.Asp200=)	FGFR1	Single nucleotide variant (synonymous variant)	Encephalocraniocutaneous lipomatosis +8 more	GBenign
Select item 362908	NM_023110.3(FGFR1):c.359-13C>G	FGFR1	Single nucleotide variant (intron variant)	Trigonocephaly 1 +8 more	GBenign/Likely benign
Select item 298974	NM_000141.5(FGFR2):c.1498_1502del	FGFR2	Deletion (3 prime UTR variant +1 more)	Craniosynostosis syndrome +8 more	GLikely benign
Select item 298977	NM_000141.5(FGFR2):c.*1369C>T	FGFR2	Single nucleotide variant (3 prime UTR variant +1 more)	Beare-Stevenson cutis gyrata syndrome +12 more	GUncertain significance
Select item 298984	NM_000141.5(FGFR2):c.*736dup	FGFR2	Duplication (3 prime UTR variant +1 more)	Craniosynostosis syndrome +8 more	GUncertain significance
Select item 298986	NM_000141.5(FGFR2):c.641_644del	FGFR2	Deletion (3 prime UTR variant +1 more)	Craniosynostosis syndrome +8 more	GLikely benign
Select item 298992	NM_000141.5(FGFR2):c.*197del	FGFR2 (K682fs)	Deletion (3 prime UTR variant +2 more)	Craniosynostosis syndrome +9 more	GConflicting classifications of pathogenicity
Select item 577711	NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)	FGFR2 (R330Q +3 more)	Single nucleotide variant (missense variant +2 more)	Crouzon syndrome +14 more	GConflicting classifications of pathogenicity
Select item 878704	NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)	FGFR2 (L143F +3 more)	Single nucleotide variant (missense variant +2 more)	Familial scaphocephaly syndrome, McGillivray type +13 more	GUncertain significance
Select item 299010	NM_000141.5(FGFR2):c.110-22TC[3]	FGFR2	Microsatellite (intron variant)	FGFR2-related craniosynostosis +9 more	GConflicting classifications of pathogenicity
Select item 134386	NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)	FGFR2 (R6P)	Single nucleotide variant (missense variant +1 more)	not specified +15 more	GBenign
Select item 877977	NM_000141.5(FGFR2):c.-17G>C	FGFR2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial scaphocephaly syndrome, McGillivray type +12 more	GUncertain significance
Select item 299020	NM_000141.5(FGFR2):c.-298_-297dup	FGFR2	Duplication (5 prime UTR variant +1 more)	Levy-Hollister syndrome +8 more	GLikely benign