LOC130066397[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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
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 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 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 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 3164151	NM_020062.4(SLC2A4RG):c.133T>A (p.Ser45Thr)	LOC130066397, SLC2A4RG (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164152	NM_020062.4(SLC2A4RG):c.134C>A (p.Ser45Tyr)	LOC130066397, SLC2A4RG (S45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319473	NM_020062.4(SLC2A4RG):c.209C>T (p.Ala70Val)	LOC130066397, SLC2A4RG (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404969	NM_020062.4(SLC2A4RG):c.223A>C (p.Thr75Pro)	LOC130066397, SLC2A4RG (T75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275058	NM_020062.4(SLC2A4RG):c.245G>C (p.Arg82Pro)	LOC130066397, SLC2A4RG (R82P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241918	NM_020062.4(SLC2A4RG):c.247A>C (p.Thr83Pro)	LOC130066397, SLC2A4RG (T83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619307	NM_020062.4(SLC2A4RG):c.268G>A (p.Val90Ile)	LOC130066397, SLC2A4RG (V90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25