ClinVar for Gene (Select 126863082) - ClinVar - NCBI

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Items: 16

	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 2456770	NM_198935.3(SS18L1):c.233C>T (p.Pro78Leu)	LOC126863082, SS18L1 (P78L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1274683	NM_198935.3(SS18L1):c.231+81T>C	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249187	NM_198935.3(SS18L1):c.232-192C>A	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245616	NM_198935.3(SS18L1):c.232-43G>A	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222437	NM_198935.3(SS18L1):c.232-25C>T	LOC126863082, SS18L1	Single nucleotide variant (intron variant)	not provided	GBenign
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 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146563	GRCh38/hg38 20q13.33(chr20:62136723-62197472)x3	LOC121853018, LOC126863082 +9 more	Copy number gain	See cases	GBenign
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 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