HCRTR1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2288075	NM_001525.3(HCRTR1):c.11C>T (p.Ser4Leu)	HCRTR1 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558997	NM_001525.3(HCRTR1):c.33G>A (p.Met11Ile)	HCRTR1 (M11I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104535	NM_001525.3(HCRTR1):c.47G>T (p.Gly16Val)	HCRTR1 (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104538	NM_001525.3(HCRTR1):c.82G>A (p.Glu28Lys)	HCRTR1 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381357	NM_001525.3(HCRTR1):c.194C>T (p.Thr65Met)	HCRTR1 (T65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713447	NM_001525.3(HCRTR1):c.210C>T (p.Ala70=)	HCRTR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2519558	NM_001525.3(HCRTR1):c.211G>A (p.Val71Met)	HCRTR1 (V71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409142	NM_001525.3(HCRTR1):c.218G>A (p.Arg73Gln)	HCRTR1 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104534	NM_001525.3(HCRTR1):c.230T>C (p.Met77Thr)	HCRTR1 (M77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779395	NM_001525.3(HCRTR1):c.237A>G (p.Thr79=)	HCRTR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596024	NM_001525.3(HCRTR1):c.260A>G (p.Asn87Ser)	HCRTR1 (N87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365253	NM_001525.3(HCRTR1):c.319G>A (p.Asp107Asn)	HCRTR1 (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616898	NM_001525.3(HCRTR1):c.343G>A (p.Gly115Ser)	HCRTR1 (G115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294454	NM_001525.3(HCRTR1):c.418A>G (p.Ile140Val)	HCRTR1 (I140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463963	NM_001525.3(HCRTR1):c.478C>T (p.Arg160Trp)	HCRTR1 (R160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520778	NM_001525.3(HCRTR1):c.538G>A (p.Ala180Thr)	HCRTR1 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104536	NM_001525.3(HCRTR1):c.584G>A (p.Arg195His)	HCRTR1 (R195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283666	NM_001525.3(HCRTR1):c.614G>A (p.Arg205His)	HCRTR1 (R205H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211630	NM_001525.3(HCRTR1):c.649A>G (p.Ser217Gly)	HCRTR1 (S217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211638	NM_001525.3(HCRTR1):c.673C>G (p.Leu225Val)	HCRTR1 (L225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283665	NM_001525.3(HCRTR1):c.734G>A (p.Arg245His)	HCRTR1 (R245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104537	NM_001525.3(HCRTR1):c.742C>A (p.Pro248Thr)	HCRTR1 (P248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392085	NM_001525.3(HCRTR1):c.766C>T (p.Arg256Trp)	HCRTR1 (R256W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212940	NM_001525.3(HCRTR1):c.767G>A (p.Arg256Gln)	HCRTR1 (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300449	NM_001525.3(HCRTR1):c.823G>A (p.Glu275Lys)	HCRTR1 (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783281	NM_001525.3(HCRTR1):c.836G>A (p.Arg279Gln)	HCRTR1 (R279Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2609172	NM_001525.3(HCRTR1):c.898C>A (p.Leu300Met)	HCRTR1 (L300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354719	NM_001525.3(HCRTR1):c.946G>A (p.Val316Ile)	HCRTR1 (V316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522003	NM_001525.3(HCRTR1):c.959T>C (p.Leu320Pro)	HCRTR1 (L320P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745078	NM_001525.3(HCRTR1):c.965+10C>T	HCRTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3104539	NM_001525.3(HCRTR1):c.968T>C (p.Val323Ala)	HCRTR1 (V323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390182	NM_001525.3(HCRTR1):c.982C>T (p.Arg328Cys)	HCRTR1 (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384878	NM_001525.3(HCRTR1):c.983G>A (p.Arg328His)	HCRTR1 (R328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360505	NM_001525.3(HCRTR1):c.1084A>G (p.Ser362Gly)	HCRTR1 (S362G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410143	NM_001525.3(HCRTR1):c.1097G>A (p.Arg366Gln)	HCRTR1 (R366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469622	NM_001525.3(HCRTR1):c.1105T>C (p.Phe369Leu)	HCRTR1 (F369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104533	NM_001525.3(HCRTR1):c.1124G>A (p.Cys375Tyr)	HCRTR1 (C375Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594438	NM_001525.3(HCRTR1):c.1258G>A (p.Val420Ile)	HCRTR1 (V420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247130	NM_012392.4(PEF1):c.829A>G (p.Thr277Ala)	HCRTR1, PEF1 (T207A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261461	NM_012392.4(PEF1):c.788C>A (p.Ala263Asp)	HCRTR1, PEF1 (A263D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375342	NM_012392.4(PEF1):c.773G>A (p.Arg258Gln)	HCRTR1, PEF1 (R188Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211330	NM_012392.4(PEF1):c.712A>G (p.Met238Val)	HCRTR1, PEF1 (M168V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550238	NM_012392.4(PEF1):c.694C>T (p.Arg232Cys)	HCRTR1, PEF1 (R162C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388674	NM_012392.4(PEF1):c.683G>A (p.Arg228His)	HCRTR1, PEF1 (R228H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361812	NM_012392.4(PEF1):c.601A>G (p.Ile201Val)	HCRTR1, PEF1 (I201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387541	NM_012392.4(PEF1):c.584G>A (p.Arg195Gln)	HCRTR1, PEF1 (R195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465262	NM_012392.4(PEF1):c.521A>G (p.Tyr174Cys)	HCRTR1, PEF1 (Y104C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211329	NM_012392.4(PEF1):c.509G>A (p.Arg170His)	HCRTR1, PEF1 (R100H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211328	NM_012392.4(PEF1):c.440A>G (p.Asn147Ser)	HCRTR1, PEF1 (N147S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211327	NM_012392.4(PEF1):c.419A>G (p.Lys140Arg)	HCRTR1, PEF1 (K140R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321770	NM_012392.4(PEF1):c.398A>G (p.Tyr133Cys)	HCRTR1, PEF1 (Y63C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261130	NM_012392.4(PEF1):c.383C>T (p.Ser128Leu)	HCRTR1, PEF1 (S128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379260	NM_012392.4(PEF1):c.372G>T (p.Gln124His)	HCRTR1, PEF1 (Q124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211324	NM_012392.4(PEF1):c.334C>T (p.Pro112Ser)	HCRTR1, PEF1 (P112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 685990	GRCh37/hg19 1p35.2(chr1:32090118-32280833)x3	ADGRB2, COL16A1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 67