ZNHIT3[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032939	NM_004773.4(ZNHIT3):c.7T>A (p.Ser3Thr)	ZNHIT3 (S3T)	Single nucleotide variant (missense variant +1 more)	PEHO syndrome	GUncertain significance
Select item 2521015	NM_004773.4(ZNHIT3):c.11T>C (p.Leu4Pro)	ZNHIT3 (L4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398823	NM_004773.4(ZNHIT3):c.17G>A (p.Cys6Tyr)	ZNHIT3 (C6Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784743	NM_004773.4(ZNHIT3):c.21C>T (p.Ser7=)	ZNHIT3	Single nucleotide variant (synonymous variant +1 more)	PEHO syndrome +1 more	GBenign/Likely benign
Select item 3199160	NM_004773.4(ZNHIT3):c.73T>G (p.Cys25Gly)	ZNHIT3 (C25G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199161	NM_004773.4(ZNHIT3):c.80T>A (p.Val27Glu)	ZNHIT3 (V27E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735542	NM_004773.4(ZNHIT3):c.84C>T (p.Pro28=)	ZNHIT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 710110	NM_004773.4(ZNHIT3):c.86+9G>A	ZNHIT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 427725	NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	ZNHIT3 (S31L)	Single nucleotide variant (missense variant +1 more)	PEHO syndrome	GLikely pathogenic
Select item 3199158	NM_004773.4(ZNHIT3):c.106C>T (p.Arg36Trp)	ZNHIT3 (R36W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3259933	NM_004773.4(ZNHIT3):c.107G>T (p.Arg36Leu)	ZNHIT3 (R36L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543617	NM_004773.4(ZNHIT3):c.116A>G (p.Lys39Arg)	ZNHIT3 (K39R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3199159	NM_004773.4(ZNHIT3):c.163T>C (p.Ser55Pro)	ZNHIT3 (S55P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2409271	NM_004773.4(ZNHIT3):c.184G>A (p.Val62Ile)	ZNHIT3 (V62I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 726269	NM_004773.4(ZNHIT3):c.213T>C (p.Asp71=)	ZNHIT3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2610048	NM_004773.4(ZNHIT3):c.220A>G (p.Ile74Val)	ZNHIT3 (I74V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3259932	NM_004773.4(ZNHIT3):c.252A>C (p.Glu84Asp)	ZNHIT3 (K73T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2627131	NM_004773.4(ZNHIT3):c.255_258del (p.Asp85fs)	ZNHIT3 (D85fs +1 more)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 3339761	NM_004773.4(ZNHIT3):c.255_256del (p.Asp85fs)	ZNHIT3 (D85fs +1 more)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 2599155	NM_004773.4(ZNHIT3):c.270G>T (p.Gln90His)	ZNHIT3 (Q90H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 987852	NM_004773.4(ZNHIT3):c.302dup (p.Leu101fs)	ZNHIT3 (L101fs +1 more)	Duplication (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2616415	NM_004773.4(ZNHIT3):c.361G>A (p.Glu121Lys)	ZNHIT3 (E65K +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2557610	NM_004773.4(ZNHIT3):c.362A>G (p.Glu121Gly)	ZNHIT3 (E121G +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3259935	NM_004773.4(ZNHIT3):c.391A>G (p.Met131Val)	ZNHIT3 (M131V +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1040554	NC_000017.10:g.(?_34842544)_(34842629_?)del	ZNHIT3	Deletion	not provided	GUncertain significance

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Items: 25