79980[Gene ID] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 2480065	NM_001145315.2(DSN1):c.965A>G (p.Lys322Arg)	DSN1 (K215R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353797	NM_001145315.2(DSN1):c.945G>T (p.Lys315Asn)	DSN1 (K208N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291278	NM_001145315.2(DSN1):c.933G>C (p.Gln311His)	DSN1 (Q204H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789855	NM_001145315.2(DSN1):c.894A>G (p.Ser298=)	DSN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378930	NM_001145315.2(DSN1):c.785C>A (p.Ser262Tyr)	DSN1 (S246Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469626	NM_001145315.2(DSN1):c.638A>C (p.Glu213Ala)	DSN1 (E106A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373441	NM_001145315.2(DSN1):c.577G>A (p.Glu193Lys)	DSN1 (E193K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527789	NM_001145315.2(DSN1):c.283T>C (p.Ser95Pro)	DSN1 (S95P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531574	NM_001145315.2(DSN1):c.104T>A (p.Phe35Tyr)	DSN1 (F35Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486731	NM_001145315.2(DSN1):c.101T>C (p.Val34Ala)	DSN1 (V18A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777545	NM_001145315.2(DSN1):c.72A>G (p.Gln24=)	DSN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341042	GRCh37/hg19 20q11.23(chr20:35335325-35606892)x3	DSN1, NDRG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 20