ClinVar for MedGen (Select 1809650) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687010	NM_024715.4(TXNDC15):c.635T>C (p.Leu212Pro)	TXNDC15 (L212P +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome 14	GPathogenic
Select item 1687009	NM_024715.4(TXNDC15):c.211dup (p.Gln71fs)	TXNDC15 (Q3fs +1 more)	Duplication (frameshift variant)	Meckel syndrome 14	GPathogenic
Select item 1687008	NM_024715.4(TXNDC15):c.956dup (p.Ser321fs)	TXNDC15 (S253fs +1 more)	Duplication (frameshift variant)	Meckel syndrome 14	GPathogenic
Select item 684428	NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter)	TXNDC15 (R214* +1 more)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome	GPathogenic
Select item 266075	NM_024715.4(TXNDC15):c.103+1G>A	TXNDC15	Single nucleotide variant (intron variant +1 more)	Meckel syndrome 14	GPathogenic
Select item 266074	NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)	TXNDC15	Deletion (inframe_deletion)	Meckel syndrome 14 +1 more	GPathogenic/Likely pathogenic

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