ClinVar for Gene (Select 9473) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325907	NM_001105556.3(THEMIS2):c.1859C>A (p.Pro620His)	THEMIS2 (P424H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3325906	NM_001105556.3(THEMIS2):c.217C>T (p.Leu73Phe)	THEMIS2 (L73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325905	NM_001105556.3(THEMIS2):c.1409C>T (p.Thr470Ile)	THEMIS2 (T341I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325904	NM_001105556.3(THEMIS2):c.650G>A (p.Arg217His)	THEMIS2 (R217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325903	NM_001105556.3(THEMIS2):c.955G>A (p.Gly319Ser)	THEMIS2 (G319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325901	NM_001105556.3(THEMIS2):c.886T>G (p.Ser296Ala)	THEMIS2 (S296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325900	NM_001105556.3(THEMIS2):c.1754G>A (p.Arg585Gln)	THEMIS2 (R389Q +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3325899	NM_001105556.3(THEMIS2):c.1773G>A (p.Ala591=)	THEMIS2 (E234K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3177052	NM_001105556.3(THEMIS2):c.8C>T (p.Pro3Leu)	LOC129929908, THEMIS2 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177051	NM_001105556.3(THEMIS2):c.875A>G (p.Tyr292Cys)	THEMIS2 (Y292C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177049	NM_001105556.3(THEMIS2):c.478C>G (p.Pro160Ala)	THEMIS2 (P160A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177048	NM_001105556.3(THEMIS2):c.374C>T (p.Thr125Ile)	THEMIS2 (T125I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177047	NM_001105556.3(THEMIS2):c.301A>C (p.Thr101Pro)	THEMIS2 (T101P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177046	NM_001105556.3(THEMIS2):c.1652C>A (p.Pro551Gln)	THEMIS2 (P551Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177045	NM_001105556.3(THEMIS2):c.1619G>A (p.Arg540Gln)	THEMIS2 (R411Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177044	NM_001105556.3(THEMIS2):c.1528G>C (p.Val510Leu)	THEMIS2 (V314L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177043	NM_001105556.3(THEMIS2):c.1508G>A (p.Arg503Gln)	THEMIS2 (R307Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177042	NM_001105556.3(THEMIS2):c.1217A>C (p.Glu406Ala)	THEMIS2 (E210A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177041	NM_001105556.3(THEMIS2):c.1072G>A (p.Glu358Lys)	THEMIS2 (E358K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2621764	NM_001105556.3(THEMIS2):c.425G>A (p.Arg142His)	THEMIS2 (R142H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546400	NM_001105556.3(THEMIS2):c.493G>C (p.Gly165Arg)	THEMIS2 (G165R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534147	NM_001105556.3(THEMIS2):c.1507C>T (p.Arg503Trp)	THEMIS2 (R307W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428643	NM_001105556.3(THEMIS2):c.980G>A (p.Arg327Gln)	THEMIS2 (R327Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2402452	NM_001105556.3(THEMIS2):c.994C>T (p.Pro332Ser)	THEMIS2 (P332S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400762	NM_001105556.3(THEMIS2):c.571G>A (p.Val191Ile)	THEMIS2 (V191I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378448	NM_001105556.3(THEMIS2):c.104A>G (p.Tyr35Cys)	THEMIS2 (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374962	NM_001105556.3(THEMIS2):c.1528G>A (p.Val510Met)	THEMIS2 (V381M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356134	NM_001105556.3(THEMIS2):c.376G>A (p.Glu126Lys)	THEMIS2 (E126K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338618	NM_001105556.3(THEMIS2):c.1683C>G (p.Ser561Arg)	THEMIS2 (S365R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331133	NM_001105556.3(THEMIS2):c.167G>A (p.Arg56His)	THEMIS2 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327487	NM_001105556.3(THEMIS2):c.386T>C (p.Leu129Pro)	THEMIS2 (L129P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325762	NM_001105556.3(THEMIS2):c.1097C>T (p.Thr366Met)	THEMIS2 (T366M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322251	NM_001105556.3(THEMIS2):c.650G>T (p.Arg217Leu)	THEMIS2 (R217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320614	NM_001105556.3(THEMIS2):c.614G>A (p.Arg205Gln)	THEMIS2 (R205Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311004	NM_001105556.3(THEMIS2):c.1076G>A (p.Arg359Lys)	THEMIS2 (R359K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306319	NM_001105556.3(THEMIS2):c.1255C>T (p.Arg419Trp)	THEMIS2 (R419W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291917	NM_001105556.3(THEMIS2):c.1811C>T (p.Thr604Met)	THEMIS2 (T475M +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2271466	NM_001105556.3(THEMIS2):c.1649C>T (p.Pro550Leu)	THEMIS2 (P354L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252842	NM_001105556.3(THEMIS2):c.922C>G (p.Arg308Gly)	THEMIS2 (R308G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235424	NM_001105556.3(THEMIS2):c.1730T>A (p.Val577Asp)	THEMIS2 (V577D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232474	NM_001105556.3(THEMIS2):c.388C>G (p.Leu130Val)	THEMIS2 (L130V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232249	NM_001105556.3(THEMIS2):c.1750G>A (p.Ala584Thr)	THEMIS2 (A388T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228011	NM_001105556.3(THEMIS2):c.998C>T (p.Thr333Met)	THEMIS2 (T333M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219882	NM_001105556.3(THEMIS2):c.688G>A (p.Asp230Asn)	THEMIS2 (D230N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211657	NM_001105556.3(THEMIS2):c.1202A>G (p.Gln401Arg)	LOC129929909, THEMIS2 (Q205R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 777747	NM_001105556.3(THEMIS2):c.331T>C (p.Phe111Leu)	THEMIS2 (F111L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59930	GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1	AHDC1, FAM76A +32 more	Copy number loss	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54