RHOT1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3314229	NM_001033566.3(RHOT1):c.13G>A (p.Val5Met)	LOC105371730, RHOT1 (V5M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3154098	NM_001033566.3(RHOT1):c.92A>G (p.Glu31Gly)	RHOT1 (E10G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597624	NM_001033566.3(RHOT1):c.317A>G (p.Asp106Gly)	RHOT1 (D106G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154097	NM_001033566.3(RHOT1):c.413A>G (p.Tyr138Cys)	RHOT1 (Y138C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410294	NM_001033566.3(RHOT1):c.571C>T (p.Arg191Cys)	RHOT1 (R64C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314228	NM_001033566.3(RHOT1):c.614A>G (p.Asn205Ser)	RHOT1 (N78S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399740	NM_001033566.3(RHOT1):c.692A>G (p.Asn231Ser)	RHOT1 (N231S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363349	NM_001033566.3(RHOT1):c.729C>A (p.Asp243Glu)	RHOT1 (D116E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610968	NM_001033566.3(RHOT1):c.1010C>T (p.Pro337Leu)	RHOT1 (P210L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154091	NM_001033566.3(RHOT1):c.1250A>G (p.Asn417Ser)	RHOT1 (N290S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623489	NM_001033566.3(RHOT1):c.1294A>G (p.Ser432Gly)	RHOT1 (S411G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258939	NM_001033566.3(RHOT1):c.1387T>C (p.Tyr463His)	RHOT1 (Y463H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245975	NM_001033566.3(RHOT1):c.1553G>A (p.Ser518Asn)	RHOT1 (S518N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154092	NM_001033566.3(RHOT1):c.1592T>G (p.Leu531Arg)	RHOT1 (L510R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314230	NM_001033566.3(RHOT1):c.1655C>T (p.Pro552Leu)	RHOT1 (P552L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563935	NM_001033566.3(RHOT1):c.1691C>G (p.Ala564Gly)	RHOT1 (A543G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386561	NM_001033566.3(RHOT1):c.1739+1063C>T	RHOT1 (L461F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326085	NM_001033566.3(RHOT1):c.1739+1112T>A	RHOT1 (I477N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154093	NM_001033566.3(RHOT1):c.1748G>A (p.Arg583Gln)	RHOT1 (R583Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314231	NM_001033566.3(RHOT1):c.1756T>C (p.Cys586Arg)	RHOT1 (C586R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314227	NM_001033566.3(RHOT1):c.1765A>G (p.Thr589Ala)	RHOT1 (T621A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224321	NM_001033566.3(RHOT1):c.1766C>T (p.Thr589Ile)	RHOT1 (T621I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154094	NM_001033566.3(RHOT1):c.1796A>G (p.Gln599Arg)	RHOT1 (Q599R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154095	NM_001033566.3(RHOT1):c.1809C>G (p.Asn603Lys)	RHOT1 (N603K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 684538	NM_001033566.3(RHOT1):c.1862+29G>A	RHOT1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3154096	NM_001033566.3(RHOT1):c.1867G>A (p.Val623Met)	RHOT1 (V455M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337002	NM_001033566.3(RHOT1):c.1976G>A (p.Arg659Gln)	RHOT1 (R523Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 815926	GRCh37/hg19 17q11.2(chr17:30306459-30537745)x3	SUZ12, RHOT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687223	GRCh37/hg19 17q11.2(chr17:30443761-30620270)x3	RHBDL3, RHOT1	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 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564427	GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3	MYO1D, PSMD11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394235	GRCh37/hg19 17q11.2(chr17:30131154-30594822)x1	COPRS, LRRC37B +4 more	Copy number loss	See cases	GUncertain significance
Select item 253816	GRCh37/hg19 17q11.2(chr17:29782998-30651260)x1	RHBDL3, RHOT1 +6 more	Copy number loss	See cases	GUncertain significance

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Items: 44