ClinVar for MedGen (Select 322167) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255124	NM_006494.4(ERF):c.227T>A (p.Met76Lys)	ERF (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis 4	GUncertain significance
Select item 3066347	NM_006494.4(ERF):c.158G>C (p.Gly53Ala)	ERF (G53A)	Single nucleotide variant (5 prime UTR variant +1 more)	Craniosynostosis 4	GLikely pathogenic
Select item 1707521	NM_006494.4(ERF):c.226A>G (p.Met76Val)	ERF (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis 4	GUncertain significance
Select item 1696620	NM_006494.4(ERF):c.398C>T (p.Pro133Leu)	ERF (P133L +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis 4 +2 more	GUncertain significance
Select item 1696540	NM_006494.4(ERF):c.373+8C>T	ERF	Single nucleotide variant (intron variant)	Chitayat syndrome +1 more	GUncertain significance
Select item 1334510	NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)	ERF (Y238* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4 +1 more	GLikely pathogenic
Select item 1224302	NM_006494.4(ERF):c.22+2T>G	ERF	Single nucleotide variant (intron variant +1 more)	Craniosynostosis 4	GPathogenic
Select item 1199415	NM_006494.4(ERF):c.517_521dup (p.Ala175fs)	ERF (A100fs +1 more)	Duplication (frameshift variant)	Craniosynostosis 4	GLikely pathogenic
Select item 1031051	NM_006494.4(ERF):c.41G>A (p.Trp14Ter)	ERF (W14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Craniosynostosis 4	GLikely pathogenic
Select item 1031050	NM_006494.4(ERF):c.1030C>G (p.Arg344Gly)	ERF (R269G +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis 4	GUncertain significance
Select item 985387	NM_006494.4(ERF):c.697C>T (p.Arg233Ter)	ERF (R158* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 977100	NM_006494.4(ERF):c.1049del (p.Leu350fs)	ERF (L275fs +1 more)	Deletion (frameshift variant)	Craniosynostosis 4	GLikely pathogenic
Select item 635528	NM_006494.4(ERF):c.286A>T (p.Lys96Ter)	ERF (K96* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4	GLikely pathogenic
Select item 543070	NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)	ERF	Deletion (nonsense)	TWIST1-related craniosynostosis +1 more	GPathogenic
Select item 435085	NM_006494.4(ERF):c.247C>T (p.Arg83Trp)	ERF (R83W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420168	NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	ERF (K326fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +6 more	GPathogenic/Likely pathogenic
Select item 267823	46;XY;t(6;11)(q23;q21)or(q25;q21)dn		Translocation	Abnormal facial skeleton morphology +10 more	GUncertain significance
Select item 218957	NM_006494.4(ERF):c.1A>G (p.Met1Val)	ERF (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 218956	NM_006494.4(ERF):c.23-2A>G	ERF	Single nucleotide variant (splice acceptor variant)	Craniosynostosis 4	GPathogenic
Select item 195928	NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)	MYH7 (E1223K)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 55927	NM_006494.4(ERF):c.1270C>T (p.Gln424Ter)	ERF (Q424* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4	GPathogenic
Select item 55926	NM_006494.4(ERF):c.194G>A (p.Arg65Gln)	ERF (R65Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 55925	NM_006494.4(ERF):c.256C>T (p.Arg86Cys)	ERF (R86C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 55924	NM_006494.4(ERF):c.891_892del (p.Gly299fs)	ERF (G299fs +1 more)	Deletion (frameshift variant)	See cases +5 more	GPathogenic/Likely pathogenic
Select item 55923	NM_006494.4(ERF):c.547C>T (p.Arg183Ter)	ERF (R183* +1 more)	Single nucleotide variant (nonsense)	Craniosynostosis 4 +2 more	GPathogenic

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Items: 25