Related gene-specific medical variations for Gene (Select 79776) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363193	NM_024721.5(ZFHX4):c.3509_3510del (p.Ser1170fs)	ZFHX4 (S1144fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3358919	NM_024721.5(ZFHX4):c.5882T>A (p.Leu1961Ter)	ZFHX4 (L1935* +1 more)	Single nucleotide variant (nonsense)	ZFHX4-related syndrome	GUncertain significance
Select item 3236585	NM_024721.5(ZFHX4):c.7492T>C (p.Cys2498Arg)	ZFHX4 (C2472R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063049	GRCh37/hg19 8q21.11(chr8:77361439-77694902)x3	ZFHX4	Copy number gain	not specified	GUncertain significance
Select item 2672270	NM_024721.5(ZFHX4):c.1277G>A (p.Ser426Asn)	ZFHX4 (S426N)	Single nucleotide variant (missense variant)	Ptosis, hereditary congenital, 1	GBenign
Select item 2438647	NM_024721.5(ZFHX4):c.9364C>T (p.Pro3122Ser)	ZFHX4 (P3096S +1 more)	Single nucleotide variant (missense variant)	Ptosis, hereditary congenital, 1	GUncertain significance
Select item 1696731	NM_024721.5(ZFHX4):c.2965A>C (p.Lys989Gln)	ZFHX4 (K989Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299125	NM_024721.5(ZFHX4):c.2969_2970del (p.Cys990fs)	ZFHX4 (C990fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 932480	NM_024721.5(ZFHX4):c.1762C>A (p.Pro588Thr)	ZFHX4 (P588T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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