THEMIS[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151611	GRCh38/hg38 6q22.33(chr6:127633679-127755583)x3	THEMIS	Copy number gain	See cases	GLikely benign
Select item 3177033	NM_001010923.3(THEMIS):c.1892C>A (p.Ala631Glu)	THEMIS (A631E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177032	NM_001010923.3(THEMIS):c.1849G>A (p.Asp617Asn)	THEMIS (D582N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374237	NM_001010923.3(THEMIS):c.1795A>C (p.Asn599His)	THEMIS (N446H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403536	NM_001010923.3(THEMIS):c.1777A>T (p.Thr593Ser)	THEMIS (T496S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329928	NM_001010923.3(THEMIS):c.1769T>G (p.Val590Gly)	THEMIS (V555G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177031	NM_001010923.3(THEMIS):c.1768G>A (p.Val590Ile)	THEMIS (V555I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204507	NM_001010923.3(THEMIS):c.1760G>A (p.Arg587His)	THEMIS (R626H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734412	NM_001010923.3(THEMIS):c.1751C>T (p.Ser584Phe)	THEMIS (S549F +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3325898	NM_001010923.3(THEMIS):c.1740C>A (p.Asp580Glu)	THEMIS (D427E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177030	NM_001010923.3(THEMIS):c.1733C>T (p.Thr578Met)	THEMIS (T481M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589278	NM_001010923.3(THEMIS):c.1673C>T (p.Pro558Leu)	THEMIS (P523L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263212	NM_001010923.3(THEMIS):c.1658C>T (p.Pro553Leu)	THEMIS (P456L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277976	NM_001010923.3(THEMIS):c.1568C>T (p.Ala523Val)	THEMIS (A488V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219775	NM_001010923.3(THEMIS):c.1523G>T (p.Arg508Leu)	THEMIS (R482L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325896	NM_001010923.3(THEMIS):c.1498G>A (p.Glu500Lys)	THEMIS (E465K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210329	NM_001010923.3(THEMIS):c.1472T>A (p.Leu491His)	THEMIS (L465H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177028	NM_001010923.3(THEMIS):c.1394A>C (p.Asp465Ala)	THEMIS (D368A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177027	NM_001010923.3(THEMIS):c.1375G>A (p.Val459Met)	THEMIS (V306M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177026	NM_001010923.3(THEMIS):c.1373A>G (p.Asn458Ser)	THEMIS (N423S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325895	NM_001010923.3(THEMIS):c.1271C>T (p.Ala424Val)	THEMIS (A424V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589108	NM_001010923.3(THEMIS):c.1256A>T (p.Lys419Met)	THEMIS (K322M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233381	NM_001010923.3(THEMIS):c.1252A>G (p.Lys418Glu)	THEMIS (K383E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606315	NM_001010923.3(THEMIS):c.1228G>A (p.Val410Ile)	THEMIS (V257I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491074	NM_001010923.3(THEMIS):c.1135A>G (p.Lys379Glu)	THEMIS (K353E +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300184	NM_001010923.3(THEMIS):c.1114G>A (p.Ala372Thr)	THEMIS (A275T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525150	NM_001010923.3(THEMIS):c.988A>G (p.Arg330Gly)	THEMIS (R177G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325897	NM_001010923.3(THEMIS):c.799C>G (p.Leu267Val)	THEMIS (L232V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376970	NM_001010923.3(THEMIS):c.773C>T (p.Ser258Phe)	THEMIS (S105F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366440	NM_001010923.3(THEMIS):c.754G>A (p.Val252Ile)	THEMIS (V226I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598982	NM_001010923.3(THEMIS):c.728G>A (p.Arg243His)	THEMIS (R90H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207077	NM_001010923.3(THEMIS):c.727C>T (p.Arg243Cys)	THEMIS (R243C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743079	NM_001010923.3(THEMIS):c.709+9C>G	THEMIS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3177039	NM_001010923.3(THEMIS):c.622A>G (p.Lys208Glu)	THEMIS (K111E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457797	NM_001010923.3(THEMIS):c.590C>A (p.Thr197Lys)	THEMIS (T100K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177038	NM_001010923.3(THEMIS):c.584A>G (p.Asn195Ser)	THEMIS (N160S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316373	NM_001010923.3(THEMIS):c.535G>A (p.Glu179Lys)	THEMIS (E144K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235423	NM_001010923.3(THEMIS):c.499T>G (p.Leu167Val)	THEMIS (L132V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541986	NM_001010923.3(THEMIS):c.481C>T (p.His161Tyr)	THEMIS (H64Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466922	NM_001010923.3(THEMIS):c.473A>G (p.His158Arg)	THEMIS (H132R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518432	NM_001010923.3(THEMIS):c.446T>C (p.Met149Thr)	THEMIS (M123T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376847	NM_001010923.3(THEMIS):c.431T>C (p.Ile144Thr)	THEMIS (I109T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325894	NM_001010923.3(THEMIS):c.421G>C (p.Val141Leu)	THEMIS (V106L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177035	NM_001010923.3(THEMIS):c.254T>G (p.Leu85Arg)	THEMIS (L50R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592885	NM_001010923.3(THEMIS):c.236C>T (p.Pro79Leu)	THEMIS (P79L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541066	NM_001010923.3(THEMIS):c.108G>T (p.Met36Ile)	THEMIS (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 774071	NM_001010923.3(THEMIS):c.107T>C (p.Met36Thr)	THEMIS (M36T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2331132	NM_001010923.3(THEMIS):c.95C>T (p.Ser32Phe)	THEMIS (S32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263624	NM_001010923.3(THEMIS):c.28C>T (p.His10Tyr)	THEMIS (H10Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177036	NM_001010923.3(THEMIS):c.25G>T (p.Val9Phe)	THEMIS (V9F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473440	NM_001010923.3(THEMIS):c.24C>A (p.Phe8Leu)	THEMIS (F8L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51