ClinVar for Gene (Select 101927770) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3194432	NM_006526.3(ZNF217):c.3082C>A (p.Gln1028Lys)	ZNF217, ZNF217-AS1 (Q1028K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194431	NM_006526.3(ZNF217):c.3049G>C (p.Val1017Leu)	ZNF217, ZNF217-AS1 (V1017L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399212	NM_006526.3(ZNF217):c.3041A>G (p.Lys1014Arg)	ZNF217, ZNF217-AS1 (K1014R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791210	NM_006526.3(ZNF217):c.3054A>T (p.Ser1018=)	ZNF217, ZNF217-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 549649	NM_006526.2(ZNF217):c.561_22199dup	LOC101927770, TSHZ2 +1 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic