16846[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 2365972	NM_001270531.2(WTAP):c.311G>C (p.Ser104Thr)	SOD2, WTAP (S104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333291	NM_001270531.2(WTAP):c.367A>G (p.Lys123Glu)	SOD2, WTAP (K123E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285043	NM_001270531.2(WTAP):c.369A>T (p.Lys123Asn)	SOD2, WTAP (K123N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339582	NM_001270531.2(WTAP):c.790G>A (p.Glu264Lys)	SOD2, WTAP (E264K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339583	NM_001270531.2(WTAP):c.791A>G (p.Glu264Gly)	SOD2, WTAP (E264G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214515	NM_001270531.2(WTAP):c.793G>A (p.Ala265Thr)	SOD2, WTAP (A265T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412553	NM_001270531.2(WTAP):c.850C>T (p.Arg284Cys)	SOD2, WTAP (R284C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190840	NM_001270531.2(WTAP):c.860C>T (p.Thr287Met)	SOD2, WTAP (T287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333292	NM_001270531.2(WTAP):c.1087C>G (p.Gln363Glu)	SOD2, WTAP (Q363E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 979580	GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3	PNLDC1, ACAT2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 686074	GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1	ACAT2, MRPL18 +4 more	Copy number loss	not provided	GUncertain significance
Select item 684944	GRCh37/hg19 6q25.3(chr6:160043162-160195268)x1	ACAT2, SOD2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
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
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 33