ZSCAN16-AS1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	LOC129996111, LOC129996112 +344 more	Copy number gain	See cases	GUncertain significance
Select item 2596889	NM_025231.3(ZSCAN16):c.97A>C (p.Ser33Arg)	ZSCAN16, ZSCAN16-AS1 (S33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259859	NM_025231.3(ZSCAN16):c.185T>G (p.Leu62Arg)	ZSCAN16, ZSCAN16-AS1 (L62R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490835	NM_025231.3(ZSCAN16):c.246C>A (p.Asp82Glu)	ZSCAN16, ZSCAN16-AS1 (D82E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2596786	NM_025231.3(ZSCAN16):c.262C>A (p.Gln88Lys)	ZSCAN16, ZSCAN16-AS1 (Q88K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2252721	NM_025231.3(ZSCAN16):c.304C>T (p.Arg102Cys)	ZSCAN16, ZSCAN16-AS1 (R102C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2311875	NM_025231.3(ZSCAN16):c.353A>G (p.Asp118Gly)	ZSCAN16, ZSCAN16-AS1 (D118G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2601728	NM_025231.3(ZSCAN16):c.379G>A (p.Gly127Arg)	ZSCAN16, ZSCAN16-AS1 (G127R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396902	NM_025231.3(ZSCAN16):c.477T>A (p.His159Gln)	ZSCAN16, ZSCAN16-AS1 (H130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199323	NM_025231.3(ZSCAN16):c.501G>C (p.Gln167His)	ZSCAN16, ZSCAN16-AS1 (Q138H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224257	NM_025231.3(ZSCAN16):c.587A>G (p.Lys196Arg)	ZSCAN16, ZSCAN16-AS1 (K167R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539157	NM_025231.3(ZSCAN16):c.725G>C (p.Gly242Ala)	ZSCAN16, ZSCAN16-AS1 (G213A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472432	NM_025231.3(ZSCAN16):c.796T>C (p.Cys266Arg)	ZSCAN16, ZSCAN16-AS1 (C266R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199324	NM_025231.3(ZSCAN16):c.799G>A (p.Asp267Asn)	ZSCAN16, ZSCAN16-AS1 (D238N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199325	NM_025231.3(ZSCAN16):c.877A>C (p.Lys293Gln)	ZSCAN16, ZSCAN16-AS1 (K264Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264280	NM_025231.3(ZSCAN16):c.914C>G (p.Thr305Arg)	ZSCAN16, ZSCAN16-AS1 (T276R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199326	NM_025231.3(ZSCAN16):c.935G>A (p.Arg312Lys)	ZSCAN16, ZSCAN16-AS1 (R312K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550699	NM_025231.3(ZSCAN16):c.958T>C (p.Tyr320His)	ZSCAN16, ZSCAN16-AS1 (Y320H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273841	NM_025231.3(ZSCAN16):c.977G>A (p.Gly326Glu)	ZSCAN16, ZSCAN16-AS1 (G297E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375397	NM_025231.3(ZSCAN16):c.1007T>C (p.Ile336Thr)	ZSCAN16, ZSCAN16-AS1 (I336T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22