HEATR9[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323359	NM_152781.4(HEATR9):c.1658C>T (p.Pro553Leu)	HEATR9 (P513L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337502	NM_152781.4(HEATR9):c.1653A>G (p.Ile551Met)	HEATR9 (I551M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104893	NM_152781.4(HEATR9):c.1652T>C (p.Ile551Thr)	HEATR9 (I511T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104892	NM_152781.4(HEATR9):c.1631G>A (p.Arg544Gln)	HEATR9 (R504Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395837	NM_152781.4(HEATR9):c.1603G>C (p.Ala535Pro)	HEATR9 (A495P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104891	NM_152781.4(HEATR9):c.1586G>A (p.Gly529Asp)	HEATR9 (G529D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2361550	NM_152781.4(HEATR9):c.1475A>G (p.Glu492Gly)	HEATR9 (E452G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365560	NM_152781.4(HEATR9):c.1387T>C (p.Cys463Arg)	HEATR9 (C423R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244875	NM_152781.4(HEATR9):c.1317G>T (p.Leu439Phe)	HEATR9 (L399F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104890	NM_152781.4(HEATR9):c.1300C>T (p.Pro434Ser)	HEATR9 (P434S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349741	NM_152781.4(HEATR9):c.1270A>G (p.Ile424Val)	HEATR9 (I384V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366937	NM_152781.4(HEATR9):c.1260G>C (p.Gln420His)	HEATR9 (Q380H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469829	NM_152781.4(HEATR9):c.1255C>T (p.Arg419Cys)	HEATR9 (R419C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485019	NM_152781.4(HEATR9):c.1160G>A (p.Arg387Lys)	HEATR9 (R347K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317776	NM_152781.4(HEATR9):c.1062G>C (p.Lys354Asn)	HEATR9 (K314N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226437	NM_152781.4(HEATR9):c.1046C>T (p.Ala349Val)	HEATR9 (A309V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104899	NM_152781.4(HEATR9):c.932G>A (p.Arg311Gln)	HEATR9 (R311Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2403914	NM_152781.4(HEATR9):c.844G>A (p.Ala282Thr)	HEATR9 (A242T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104898	NM_152781.4(HEATR9):c.743T>C (p.Val248Ala)	HEATR9 (V248A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243211	NM_152781.4(HEATR9):c.673G>A (p.Glu225Lys)	HEATR9 (E225K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557792	NM_152781.4(HEATR9):c.650G>T (p.Arg217Leu)	HEATR9 (R177L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310389	NM_152781.4(HEATR9):c.636T>G (p.Asn212Lys)	HEATR9 (N212K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234677	NM_152781.4(HEATR9):c.589G>C (p.Val197Leu)	HEATR9 (V157L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281296	NM_152781.4(HEATR9):c.565G>A (p.Val189Met)	HEATR9 (V189M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104896	NM_152781.4(HEATR9):c.433C>A (p.Leu145Met)	HEATR9 (L145M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 441019	NM_152781.4(HEATR9):c.400C>T (p.Arg134Ter)	HEATR9 (R134*)	Single nucleotide variant (nonsense +2 more)	not provided	Gnot provided
Select item 3104895	NM_152781.4(HEATR9):c.374G>A (p.Ser125Asn)	HEATR9 (S125N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240285	NM_152781.4(HEATR9):c.283G>A (p.Ala95Thr)	HEATR9 (A95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365967	NM_152781.4(HEATR9):c.170A>G (p.Glu57Gly)	HEATR9 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520248	NM_152781.4(HEATR9):c.161C>G (p.Pro54Arg)	HEATR9 (P54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 815929	GRCh37/hg19 17q12(chr17:34158619-34477480)x4	CCL14, CCL15 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685762	GRCh37/hg19 17q12(chr17:34151183-34477480)x3	CCL14, CCL15 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 37