ClinVar for MedGen (Select 1794177) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584361	NM_198535.3(ZNF699):c.1310_1311del (p.His437fs)	ZNF699 (H437fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 1878609	NM_198535.3(ZNF699):c.1058A>T (p.His353Leu)	ZNF699 (H353L)	Single nucleotide variant (missense variant)	DEGCAGS syndrome	GUncertain significance
Select item 1708057	NM_198535.3(ZNF699):c.159_166delinsTTCTTA (p.Gln53fs)	ZNF699 (Q53fs)	Indel (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 1526142	NM_198535.3(ZNF699):c.2T>A (p.Met1Lys)	ZNF699 (M1K)	Single nucleotide variant (missense variant +1 more)	DEGCAGS syndrome	GUncertain significance
Select item 1205839	NM_198535.3(ZNF699):c.51_54del (p.Asp17fs)	ZNF699 (D17fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 1205838	NM_198535.3(ZNF699):c.349dup (p.Ile117fs)	ZNF699 (I117fs)	Duplication (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 1205837	NM_198535.3(ZNF699):c.1324dup (p.Ser442fs)	ZNF699 (S442fs)	Duplication (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 1205836	NM_198535.3(ZNF699):c.1623_1626del (p.Tyr542fs)	ZNF699 (Y542fs)	Microsatellite (frameshift variant)	DEGCAGS syndrome	GLikely benign
Select item 1205835	NM_198535.3(ZNF699):c.436_439del (p.Asp146fs)	ZNF699 (D146fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic

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