ClinVar for MedGen (Select 901885) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687896	NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)	THOC2 (S789N)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 2664798	NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)	THOC2 (V337A)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 2664007	NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala)	THOC2 (E1548A)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 2437082	NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)	THOC2 (V1379F)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GUncertain significance
Select item 2437081	NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys)	THOC2 (Y106C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 2437080	NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile)	THOC2 (T1013I)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 2437079	NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His)	THOC2 (R1409H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 1805377	NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)	THOC2 (I1440V)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 1802559	NM_001081550.2(THOC2):c.623A>G (p.Asn208Ser)	THOC2 (N208S)	Single nucleotide variant (missense variant)	THOC2-related condition +1 more	GUncertain significance
Select item 1709280	NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His)	THOC2 (Y995H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 1700228	NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His)	THOC2 (Y899H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 1700225	NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg)	LOC130068628, THOC2 (W12R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 1527937	NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr)	THOC2 (C615Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 1342291	NM_001081550.2(THOC2):c.2317-47A>G	THOC2	Single nucleotide variant (intron variant)	X-linked intellectual disability-short stature-overweight syndrome	GBenign
Select item 1342290	NM_001081550.2(THOC2):c.2481+42A>G	THOC2	Single nucleotide variant (intron variant)	X-linked intellectual disability-short stature-overweight syndrome	GBenign
Select item 1257145	NM_001081550.2(THOC2):c.3058-9C>T	THOC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1098859	NM_001081550.2(THOC2):c.3324G>A (p.Ser1108=)	THOC2	Single nucleotide variant (synonymous variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GLikely benign
Select item 1033275	NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser)	THOC2 (N805S)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 1029052	NM_001081550.2(THOC2):c.2993G>A (p.Arg998His)	THOC2 (R998H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 1029051	NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro)	THOC2 (A912P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GUncertain significance
Select item 1029050	NM_001081550.2(THOC2):c.195G>C (p.Gln65His)	THOC2 (Q65H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 996890	NM_001081550.2(THOC2):c.4519+3A>G	THOC2	Single nucleotide variant (intron variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 984647	NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys)	THOC2 (Y1102C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 982367	NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)	THOC2 (A648S)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 973335	NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly)	THOC2 (D656G)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GUncertain significance
Select item 930987	NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg)	THOC2 (G1205R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 807709	NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser)	THOC2 (Y50S)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 804360	NM_001081550.2(THOC2):c.4678-572_*18+1195del	THOC2	Deletion (splice acceptor variant +1 more)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 804359	NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg)	THOC2 (K1549R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 804358	NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys)	THOC2 (W1100C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 804357	NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp)	THOC2 (R1075W)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 804356	NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys)	THOC2 (Y881C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 804355	NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu)	THOC2 (K724E)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 804354	NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp)	THOC2 (N666D)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 788159	NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=)	THOC2	Single nucleotide variant (synonymous variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GBenign/Likely benign
Select item 716737	NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr)	THOC2 (A421T)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GBenign/Likely benign
Select item 592093	NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)	THOC2 (F45I)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 522108	NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr)	THOC2 (C981Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 488439	NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His)	THOC2 (N1261H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 488438	NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly)	THOC2 (R1121G)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 488437	NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu)	THOC2 (S1108L)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 488436	NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)	THOC2 (R77C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +2 more	GConflicting classifications of pathogenicity
Select item 488435	NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys)	THOC2 (Y517C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GUncertain significance
Select item 488434	NM_001081550.2(THOC2):c.4450-2A>G	THOC2	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 488433	NM_001081550.2(THOC2):c.3503+4A>C	THOC2	Single nucleotide variant (intron variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 488432	NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr)	THOC2 (H1187Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GLikely pathogenic
Select item 488431	NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp)	THOC2 (G713D)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GPathogenic
Select item 488430	NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)	THOC2 (T696I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 445877	NM_001081550.2(THOC2):c.769-20dup	THOC2	Duplication (intron variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GBenign/Likely benign
Select item 351086	NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)	SIL1 (R92W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 208526	NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr)	THOC2 (I800T)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GPathogenic
Select item 208525	NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro)	THOC2 (S1012P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GPathogenic
Select item 208524	NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe)	THOC2 (L313F)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GPathogenic
Select item 208523	NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro)	THOC2 (L438P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome	GPathogenic

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Items: 54