14600[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 146043	GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3	ATP6V1H, LOC111811969 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2412475	NM_170587.4(RGS20):c.100T>C (p.Tyr34His)	RGS20 (Y34H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597669	NM_170587.4(RGS20):c.172C>A (p.Pro58Thr)	RGS20 (P58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314102	NM_170587.4(RGS20):c.203C>T (p.Ala68Val)	RGS20 (A68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314103	NM_170587.4(RGS20):c.243C>A (p.Ser81Arg)	RGS20 (S81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470578	NM_170587.4(RGS20):c.289G>A (p.Ala97Thr)	RGS20 (A97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470579	NM_170587.4(RGS20):c.290C>A (p.Ala97Asp)	RGS20 (A97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778397	NM_170587.4(RGS20):c.336G>A (p.Pro112=)	RGS20	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2350996	NM_170587.4(RGS20):c.394G>C (p.Gly132Arg)	RGS20 (G132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658601	NM_003702.5(RGS20):c.9G>C (p.Thr3=)	RGS20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2514247	NM_003702.5(RGS20):c.104G>A (p.Arg35Gln)	RGS20 (R35Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383582	NM_003702.5(RGS20):c.119C>T (p.Ala40Val)	RGS20 (A187V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286650	NM_003702.5(RGS20):c.122A>G (p.Gln41Arg)	RGS20 (Q73R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227786	NM_003702.5(RGS20):c.133G>A (p.Gly45Ser)	RGS20 (G192S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514343	NM_003702.5(RGS20):c.154G>A (p.Gly52Arg)	RGS20 (G84R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 754436	NM_003702.5(RGS20):c.161G>A (p.Gly54Glu)	RGS20 (G86E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2344699	NM_003702.5(RGS20):c.166C>T (p.Arg56Cys)	RGS20 (R88C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153863	NM_003702.5(RGS20):c.175A>C (p.Asn59His)	RGS20 (N59H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297486	NM_003702.5(RGS20):c.231A>C (p.Arg77Ser)	RGS20 (R16S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776334	NM_003702.5(RGS20):c.324A>G (p.Glu108=)	RGS20	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3153864	NM_003702.5(RGS20):c.446A>G (p.Glu149Gly)	RGS20 (E181G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223120	NM_003702.5(RGS20):c.553C>T (p.Arg185Trp)	RGS20 (R124W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597610	NM_003702.5(RGS20):c.554G>A (p.Arg185Gln)	RGS20 (R124Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306483	NM_003702.5(RGS20):c.662T>G (p.Phe221Cys)	RGS20 (F253C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524140	NM_003702.5(RGS20):c.722C>T (p.Ala241Val)	RGS20 (A180V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684543	GRCh37/hg19 8q11.23(chr8:54798193-55200535)x3	LYPLA1, MRPL15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 51