ClinVar for Gene (Select 219931) - ClinVar

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

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353949	NM_139075.4(TPCN2):c.1925C>G (p.Ala642Gly)	TPCN2 (A642G)	Single nucleotide variant (missense variant)	TPCN2-related condition	GLikely benign
Select item 3353801	NM_139075.4(TPCN2):c.826G>A (p.Asp276Asn)	TPCN2 (D276N)	Single nucleotide variant (missense variant)	TPCN2-related condition	GLikely benign
Select item 3352781	NM_139075.4(TPCN2):c.1762-4C>A	TPCN2	Single nucleotide variant (intron variant)	TPCN2-related condition	GLikely benign
Select item 3328265	NM_139075.4(TPCN2):c.953A>G (p.Tyr318Cys)	TPCN2 (Y318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328264	NM_139075.4(TPCN2):c.352T>C (p.Trp118Arg)	TPCN2 (W118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328263	NM_139075.4(TPCN2):c.1298A>G (p.Tyr433Cys)	TPCN2 (Y433C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181512	NM_139075.4(TPCN2):c.991C>T (p.Arg331Trp)	TPCN2 (R331W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181510	NM_139075.4(TPCN2):c.889G>A (p.Val297Met)	TPCN2 (V297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181509	NM_139075.4(TPCN2):c.773T>C (p.Leu258Pro)	TPCN2 (L258P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181508	NM_139075.4(TPCN2):c.670G>T (p.Ala224Ser)	TPCN2 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181507	NM_139075.4(TPCN2):c.596C>T (p.Ser199Phe)	TPCN2 (S199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181506	NM_139075.4(TPCN2):c.535G>A (p.Val179Met)	TPCN2 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181505	NM_139075.4(TPCN2):c.442G>A (p.Gly148Arg)	TPCN2 (G148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181504	NM_139075.4(TPCN2):c.379A>T (p.Ser127Cys)	TPCN2 (S127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181503	NM_139075.4(TPCN2):c.2164G>A (p.Val722Met)	TPCN2 (V722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181502	NM_139075.4(TPCN2):c.194G>A (p.Arg65Gln)	TPCN2 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181501	NM_139075.4(TPCN2):c.1883A>G (p.Gln628Arg)	TPCN2 (Q628R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181500	NM_139075.4(TPCN2):c.17C>T (p.Ala6Val)	LOC130006277, TPCN2 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181499	NM_139075.4(TPCN2):c.16G>A (p.Ala6Thr)	LOC130006277, TPCN2 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181498	NM_139075.4(TPCN2):c.1630A>G (p.Thr544Ala)	TPCN2 (T544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181496	NM_139075.4(TPCN2):c.1507G>A (p.Val503Met)	TPCN2 (V503M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181495	NM_139075.4(TPCN2):c.1396G>A (p.Asp466Asn)	TPCN2 (D466N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181494	NM_139075.4(TPCN2):c.1391G>A (p.Arg464His)	TPCN2 (R464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181493	NM_139075.4(TPCN2):c.1324G>A (p.Ala442Thr)	TPCN2 (A442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181492	NM_139075.4(TPCN2):c.1246G>A (p.Glu416Lys)	TPCN2 (E416K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642048	NM_139075.4(TPCN2):c.159C>T (p.Ile53=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606386	NM_139075.4(TPCN2):c.311C>T (p.Ser104Leu)	TPCN2 (S104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598782	NM_139075.4(TPCN2):c.1847C>T (p.Pro616Leu)	TPCN2 (P616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593133	NM_139075.4(TPCN2):c.1810G>A (p.Val604Ile)	TPCN2 (V604I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589472	NM_139075.4(TPCN2):c.1528G>A (p.Val510Ile)	TPCN2 (V510I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559594	NM_139075.4(TPCN2):c.728A>G (p.Gln243Arg)	TPCN2 (Q243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557657	NM_139075.4(TPCN2):c.1738C>T (p.Arg580Cys)	TPCN2 (R580C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542688	NM_139075.4(TPCN2):c.1305C>G (p.Asp435Glu)	TPCN2 (D435E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539766	NM_139075.4(TPCN2):c.1742C>T (p.Ala581Val)	TPCN2 (A581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537342	NM_139075.4(TPCN2):c.1213A>G (p.Arg405Gly)	TPCN2 (R405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526950	NM_139075.4(TPCN2):c.1172T>C (p.Leu391Pro)	TPCN2 (L391P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522646	NM_139075.4(TPCN2):c.1273G>A (p.Ala425Thr)	TPCN2 (A425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521866	NM_139075.4(TPCN2):c.1669C>T (p.Arg557Cys)	TPCN2 (R557C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520840	NM_139075.4(TPCN2):c.635C>T (p.Ser212Leu)	TPCN2 (S212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464501	NM_139075.4(TPCN2):c.1733A>G (p.Asn578Ser)	TPCN2 (N578S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454470	NM_139075.4(TPCN2):c.779A>G (p.Glu260Gly)	TPCN2 (E260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2405028	NM_139075.4(TPCN2):c.209C>T (p.Ser70Leu)	TPCN2 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401687	NM_139075.4(TPCN2):c.842C>T (p.Ala281Val)	TPCN2 (A281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383840	NM_139075.4(TPCN2):c.1423G>A (p.Val475Ile)	TPCN2 (V475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378748	NM_139075.4(TPCN2):c.2200G>A (p.Gly734Arg)	TPCN2 (G734R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374197	NM_139075.4(TPCN2):c.68C>T (p.Pro23Leu)	LOC130006277, TPCN2 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368826	NM_139075.4(TPCN2):c.946C>T (p.Arg316Trp)	TPCN2 (R316W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368693	NM_139075.4(TPCN2):c.950G>T (p.Gly317Val)	TPCN2 (G317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360848	NM_139075.4(TPCN2):c.1661G>A (p.Arg554His)	TPCN2 (R554H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352539	NM_139075.4(TPCN2):c.326C>T (p.Ala109Val)	TPCN2 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351715	NM_139075.4(TPCN2):c.1151G>A (p.Arg384His)	TPCN2 (R384H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285784	NM_139075.4(TPCN2):c.863A>G (p.Tyr288Cys)	TPCN2 (Y288C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284357	NM_139075.4(TPCN2):c.572G>A (p.Arg191His)	TPCN2 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281356	NM_139075.4(TPCN2):c.313C>G (p.Leu105Val)	TPCN2 (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273904	NM_139075.4(TPCN2):c.2023G>C (p.Val675Leu)	TPCN2 (V675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259776	NM_139075.4(TPCN2):c.1253A>G (p.Gln418Arg)	TPCN2 (Q418R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246605	NM_139075.4(TPCN2):c.27G>T (p.Glu9Asp)	LOC130006277, TPCN2 (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235334	NM_139075.4(TPCN2):c.649G>T (p.Ala217Ser)	TPCN2 (A217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220519	NM_139075.4(TPCN2):c.479G>A (p.Gly160Asp)	TPCN2 (G160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218830	NM_139075.4(TPCN2):c.115G>T (p.Ala39Ser)	TPCN2 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215361	NM_139075.4(TPCN2):c.1619T>C (p.Leu540Pro)	TPCN2 (L540P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1332710	NM_139075.4(TPCN2):c.580T>C (p.Phe194Leu)	TPCN2 (F194L)	Single nucleotide variant (missense variant)	Skin/hair/eye pigmentation, variation in, 10	GUncertain significance
Select item 1252481	NM_139075.4(TPCN2):c.655G>A (p.Val219Ile)	TPCN2 (V219I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 783619	NM_139075.4(TPCN2):c.241G>A (p.Val81Ile)	TPCN2 (V81I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776636	NM_139075.4(TPCN2):c.1296C>T (p.Tyr432=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776635	NM_139075.4(TPCN2):c.711G>A (p.Leu237=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776634	NM_139075.4(TPCN2):c.267C>T (p.Thr89=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774695	NM_139075.4(TPCN2):c.546+4G>C	TPCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773825	NM_139075.4(TPCN2):c.2042C>T (p.Ser681Leu)	TPCN2 (S681L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742415	NM_139075.4(TPCN2):c.1921-4G>A	TPCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708142	NM_139075.4(TPCN2):c.1653C>T (p.Ile551=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708141	NM_139075.4(TPCN2):c.250C>T (p.Arg84Trp)	TPCN2 (R84W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689694	NM_139075.4(TPCN2):c.1259C>T (p.Pro420Leu)	TPCN2 (P420L)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +1 more	GUncertain significance
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 728	NM_139075.4(TPCN2):c.2201G>A (p.Gly734Glu)	TPCN2 (G734E)	Single nucleotide variant (missense variant)	Skin/hair/eye pigmentation, variation in, 10	Gassociation
Select item 727	NM_139075.4(TPCN2):c.1450A>T (p.Met484Leu)	TPCN2 (M484L)	Single nucleotide variant (missense variant)	Skin/hair/eye pigmentation, variation in, 10	Gassociation

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 86