ClinVar for Gene (Select 3363) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285063	NM_019859.4(HTR7):c.1369C>T (p.Pro457Ser)	HTR7 (P457S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3285062	NM_019859.4(HTR7):c.263T>G (p.Leu88Arg)	HTR7 (L88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285061	NM_019859.4(HTR7):c.1360C>G (p.Leu454Val)	HTR7 (L454V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107605	NM_019859.4(HTR7):c.997G>A (p.Val333Ile)	HTR7 (V333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107604	NM_019859.4(HTR7):c.6G>A (p.Met2Ile)	HTR7, LOC130004326 (M2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107602	NM_019859.4(HTR7):c.1376A>G (p.His459Arg)	HTR7 (H459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107601	NM_019859.4(HTR7):c.130T>C (p.Trp44Arg)	HTR7 (W44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107600	NM_019859.4(HTR7):c.1156T>A (p.Phe386Ile)	HTR7 (F386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2612746	NM_019859.4(HTR7):c.343C>T (p.Pro115Ser)	HTR7 (P115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2553838	NM_019859.4(HTR7):c.415A>G (p.Ser139Gly)	HTR7 (S139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539259	NM_019859.4(HTR7):c.197A>G (p.Asn66Ser)	HTR7 (N66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536883	NM_019859.4(HTR7):c.701G>A (p.Ser234Asn)	HTR7 (S234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531585	NM_019859.4(HTR7):c.236T>G (p.Val79Gly)	HTR7 (V79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522242	NM_019859.4(HTR7):c.116C>G (p.Pro39Arg)	HTR7 (P39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360520	NM_019859.4(HTR7):c.193G>A (p.Asp65Asn)	HTR7 (D65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358800	NM_019859.4(HTR7):c.1165C>T (p.Arg389Trp)	HTR7 (R389W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358454	NM_019859.4(HTR7):c.1394A>G (p.Asp465Gly)	HTR7 (D465G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2317674	NM_019859.4(HTR7):c.50G>T (p.Arg17Leu)	HTR7 (R17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252909	NM_019859.4(HTR7):c.44A>G (p.His15Arg)	HTR7 (H15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245909	NM_019859.4(HTR7):c.411C>A (p.Phe137Leu)	HTR7 (F137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214413	NM_019859.4(HTR7):c.116C>A (p.Pro39Gln)	HTR7 (P39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1807569	GRCh37/hg19 10q23.31(chr10:92549833-92657760)x1	HTR7, RPP30	Copy number loss	not provided	GUncertain significance
Select item 815368	GRCh37/hg19 10q23.31(chr10:92614401-92722894)x1	RPP30, ANKRD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 778468	NM_019859.4(HTR7):c.1343C>G (p.Pro448Arg)	HTR7 (P448R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 728675	NM_019859.4(HTR7):c.186G>T (p.Ala62=)	HTR7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688427	GRCh37/hg19 10q23.31(chr10:92085375-92605364)x3	HTR7	Copy number gain	not provided	GUncertain significance
Select item 687746	GRCh37/hg19 10q23.31(chr10:92079135-92600085)x3	HTR7	Copy number gain	not provided	GUncertain significance
Select item 686800	GRCh37/hg19 10q23.31(chr10:92077461-92605364)x3	HTR7	Copy number gain	not provided	GUncertain significance
Select item 624540	GRCh37/hg19 10q23.31(chr10:92095432-92594891)x3	HTR7	Copy number gain	not provided	GLikely benign
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442288	GRCh37/hg19 10q23.31-23.32(chr10:92605118-92926773)x1	ANKRD1, HTR7 +2 more	Copy number loss	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 154035	GRCh38/hg38 10q23.31(chr10:90327423-90845362)x3	HTR7, LINC02653 +2 more	Copy number gain	See cases	GLikely benign
Select item 146591	GRCh38/hg38 10q23.31(chr10:90603795-90835134)x3	HTR7, LOC130004325	Copy number gain	See cases	GBenign

ClinVar

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Germline classification

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Links from Gene

Items: 47