ClinVar for MedGen (Select 394424) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684282	NM_152274.5(CCNQ):c.651G>A (p.Trp217Ter)	CCNQ (W217*)	Single nucleotide variant (nonsense)	Syndactyly-telecanthus-anogenital and renal malformations syndrome	GLikely pathogenic
Select item 10675	NM_152274.5(CCNQ):c.658-1G>A	CCNQ	Single nucleotide variant (intron variant +1 more)	Syndactyly-telecanthus-anogenital and renal malformations syndrome	GPathogenic
Select item 10674	NM_152274.5(CCNQ):c.303dup (p.Asn102Ter)	CCNQ (N102*)	Duplication (nonsense)	Syndactyly-telecanthus-anogenital and renal malformations syndrome	GPathogenic
Select item 10673	NM_152274.5(CCNQ):c.657+1G>A	CCNQ	Single nucleotide variant (splice donor variant)	Syndactyly-telecanthus-anogenital and renal malformations syndrome	GPathogenic
Select item 10672	NC_000023.11:g.153585471_153589719del	CCNQ	Deletion	Syndactyly-telecanthus-anogenital and renal malformations syndrome	GPathogenic
Select item 10671	NC_000023.11:g.153595512_153635582del	CCNQ, LOC105373383 +5 more	Deletion	Syndactyly-telecanthus-anogenital and renal malformations syndrome	GPathogenic

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