ClinVar for MedGen (Select 934691) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584573	NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)	ABCG5, DYNC2LI1 (A447V)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 2 +1 more	GUncertain significance
Select item 2584572	NM_022436.3(ABCG5):c.576del (p.Ile193fs)	ABCG5, DYNC2LI1 (I193fs)	Deletion (3 prime UTR variant +1 more)	Sitosterolemia 2 +1 more	GLikely pathogenic
Select item 2441080	NM_016008.4(DYNC2LI1):c.930C>A (p.Asp310Glu)	DYNC2LI1 (D310E +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 15 with polydactyly	GUncertain significance
Select item 2441079	NM_016008.4(DYNC2LI1):c.326T>A (p.Phe109Tyr)	DYNC2LI1 (F109Y)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 15 with polydactyly	GUncertain significance
Select item 1806344	NM_016008.4(DYNC2LI1):c.127-8A>G	DYNC2LI1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 15 with polydactyly	GUncertain significance
Select item 1806184	NM_016008.4(DYNC2LI1):c.764T>C (p.Leu255Pro)	DYNC2LI1 (L255P +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 15 with polydactyly	GUncertain significance
Select item 1255528	NM_016008.4(DYNC2LI1):c.98T>C (p.Phe33Ser)	DYNC2LI1 (F33S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 15 with polydactyly +1 more	GBenign
Select item 1106719	NM_016008.4(DYNC2LI1):c.18_19del (p.Trp7fs)	DYNC2LI1 (W7fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 719316	NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)	DYNC2LI1 (L6F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 518440	NM_016008.4(DYNC2LI1):c.655-9del	DYNC2LI1	Deletion (intron variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 518439	NM_016008.4(DYNC2LI1):c.123_124insA (p.Gly42fs)	DYNC2LI1 (G42fs)	Insertion (frameshift variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 518438	NM_016008.4(DYNC2LI1):c.420del (p.Lys140_Val141insTer)	DYNC2LI1	Deletion (frameshift variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 518437	NM_016008.4(DYNC2LI1):c.2T>C (p.Met1Thr)	DYNC2LI1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 253219	NM_016008.4(DYNC2LI1):c.659C>T (p.Thr220Ile)	DYNC2LI1 (T221I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253218	NM_016008.4(DYNC2LI1):c.619C>T (p.Arg207Ter)	DYNC2LI1 (R208* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 212768	NM_016008.4(DYNC2LI1):c.993+3A>G	DYNC2LI1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 1 +1 more	GPathogenic
Select item 212767	NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter)	ABCG5, DYNC2LI1 (E334* +1 more)	Single nucleotide variant (nonsense +1 more)	Asphyxiating thoracic dystrophy 1 +1 more	GPathogenic
Select item 212766	NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter)	DYNC2LI1 (W124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 212765	NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)	DYNC2LI1 (L117V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 212764	NM_016008.4(DYNC2LI1):c.993+1G>A	DYNC2LI1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 30485	NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	ABCG5, DYNC2LI1 (R446*)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 15 with polydactyly +5 more	GPathogenic/Likely pathogenic

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Items: 21