20999[HGNC] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 3137620	NM_018473.4(ACOT13):c.26G>A (p.Arg9Gln)	ACOT13, LOC113174982 (R9Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3137632	NM_018473.4(ACOT13):c.45G>A (p.Met15Ile)	ACOT13 (M15I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470465	NM_018473.4(ACOT13):c.45G>T (p.Met15Ile)	ACOT13 (M15I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 151590	GRCh38/hg38 6p22.3(chr6:24686052-24833713)x3	ACOT13, ARMH2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3137607	NM_018473.4(ACOT13):c.175T>G (p.Leu59Val)	ACOT13 (L59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137610	NM_018473.4(ACOT13):c.176T>G (p.Leu59Trp)	ACOT13 (L36W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456284	NM_018473.4(ACOT13):c.185C>T (p.Thr62Met)	ACOT13 (T62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514319	NM_018473.4(ACOT13):c.299T>C (p.Ile100Thr)	ACOT13 (I100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261910	NM_018473.4(ACOT13):c.300A>G (p.Ile100Met)	ACOT13 (I100M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336963	NM_018473.4(ACOT13):c.316G>C (p.Val106Leu)	ACOT13 (V83L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251962	NM_018473.4(ACOT13):c.341C>A (p.Ala114Glu)	ACOT13 (A114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532081	NM_018473.4(ACOT13):c.406A>G (p.Lys136Glu)	ACOT13 (K113E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 814803	GRCh37/hg19 6p22.3(chr6:24497678-25168510)x3	TDP2, ACOT13 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 20