ClinVar for MedGen (Select 1641011) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366972	NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)	CILK1 (Y555fs +1 more)	Deletion (frameshift variant +1 more)	Cranioectodermal dysplasia	GPathogenic
Select item 558759	NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)	WDR19 (Y541* +1 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia +5 more	GPathogenic/Likely pathogenic
Select item 523181	NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)	IFT140 (P726L)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia +1 more	GPathogenic
Select item 523177	NM_014714.4(IFT140):c.3454-488_4182+2588dup	IFT140	Duplication (splice acceptor variant +1 more)	Cranioectodermal dysplasia +2 more	GPathogenic
Select item 348763	NM_025132.4(WDR19):c.293_296dup	WDR19	Duplication (3 prime UTR variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 348750	NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)	WDR19 (N1121S +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia +4 more	GUncertain significance
Select item 348733	NM_025132.4(WDR19):c.1249+9A>G	WDR19	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 348732	NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	WDR19	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 348730	NM_025132.4(WDR19):c.1134+13T>G	WDR19	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 348721	NM_025132.3(WDR19):c.-59dup	LOC112939934, WDR19	Duplication	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 343257	NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)	IFT122 (R928C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 343247	NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)	IFT122 (E699A +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 343243	NM_052989.3(IFT122):c.1713G>T (p.Ser571=)	IFT122	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 343233	NM_052989.3(IFT122):c.321A>G (p.Gln107=)	IFT122	Single nucleotide variant (synonymous variant +2 more)	Cranioectodermal dysplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 343228	NM_052989.3(IFT122):c.109-15T>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign/Likely benign
Select item 333410	NM_002381.5(MATN3):c.*176C>T	MATN3, WDR35 +1 more	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant +4 more	GBenign
Select item 333407	NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)	WDR35, MATN3 (Q18R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +6 more	GBenign/Likely benign
Select item 333391	NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)	WDR35 (R557C +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +5 more	GUncertain significance
Select item 333389	NM_020779.4(WDR35):c.1753G>A (p.Val585Ile)	WDR35 (V596I +1 more)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 333375	NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly)	WDR35 (S997G +1 more)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 333344	NM_020779.4(WDR35):c.1575_1576dup	WDR35	Duplication (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GLikely benign
Select item 333339	NM_020779.4(WDR35):c.*2029GTCT[1]	WDR35	Microsatellite (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 333338	NM_020779.4(WDR35):c.*2288C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 314462	NM_003239.5(TGFB3):c.-614C>T	IFT43, TGFB3	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia +2 more	GBenign/Likely benign
Select item 314460	NM_003239.5(TGFB3):c.-543T>A	IFT43, TGFB3	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia +2 more	GLikely benign
Select item 266105	NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)	WDR19 (I478M +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 262273	NM_052989.3(IFT122):c.740+15G>A	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign
Select item 262270	NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)	LOC126806810, IFT122 (R738Q +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 262268	NM_052989.3(IFT122):c.1654-12C>T	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 1 +3 more	GBenign
Select item 258647	NM_002381.5(MATN3):c.1406-4C>T	MATN3, WDR35 +1 more	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 195621	NM_025132.4(WDR19):c.2364-15_2364-14del	WDR19	Deletion (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 194901	NM_052989.3(IFT122):c.1993-7G>C	IFT122	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia +3 more	GBenign
Select item 191185	NM_052989.3(IFT122):c.2375+2T>C	IFT122	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 1	GPathogenic
Select item 127158	NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	WDR19 (R1178Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 65741	NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)	IFT122 (G546R +6 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia	GUncertain significance
Select item 65619	NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	WDR35 (L641* +1 more)	Single nucleotide variant (nonsense)	WDR35-related disorder +4 more	GPathogenic/Likely pathogenic

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Items: 36