TPCN2[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3181499	NM_139075.4(TPCN2):c.16G>A (p.Ala6Thr)	LOC130006277, TPCN2 (A6T)	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 2246605	NM_139075.4(TPCN2):c.27G>T (p.Glu9Asp)	LOC130006277, TPCN2 (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2218830	NM_139075.4(TPCN2):c.115G>T (p.Ala39Ser)	TPCN2 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642048	NM_139075.4(TPCN2):c.159C>T (p.Ile53=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2405028	NM_139075.4(TPCN2):c.209C>T (p.Ser70Leu)	TPCN2 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783619	NM_139075.4(TPCN2):c.241G>A (p.Val81Ile)	TPCN2 (V81I)	Single nucleotide variant (missense 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 776634	NM_139075.4(TPCN2):c.267C>T (p.Thr89=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2281356	NM_139075.4(TPCN2):c.313C>G (p.Leu105Val)	TPCN2 (L105V)	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 3328264	NM_139075.4(TPCN2):c.352T>C (p.Trp118Arg)	TPCN2 (W118R)	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 3181505	NM_139075.4(TPCN2):c.442G>A (p.Gly148Arg)	TPCN2 (G148R)	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 3181506	NM_139075.4(TPCN2):c.535G>A (p.Val179Met)	TPCN2 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774695	NM_139075.4(TPCN2):c.546+4G>C	TPCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 3181507	NM_139075.4(TPCN2):c.596C>T (p.Ser199Phe)	TPCN2 (S199F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3377525	NM_139075.4(TPCN2):c.628C>T (p.Arg210Cys)	TPCN2 (R210C)	Single nucleotide variant (missense variant)	Skin/hair/eye pigmentation, variation in, 10	GLikely pathogenic
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 2235334	NM_139075.4(TPCN2):c.649G>T (p.Ala217Ser)	TPCN2 (A217S)	Single nucleotide variant (missense variant)	not specified	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 3181508	NM_139075.4(TPCN2):c.670G>T (p.Ala224Ser)	TPCN2 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776635	NM_139075.4(TPCN2):c.711G>A (p.Leu237=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3181509	NM_139075.4(TPCN2):c.773T>C (p.Leu258Pro)	TPCN2 (L258P)	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 3353801	NM_139075.4(TPCN2):c.826G>A (p.Asp276Asn)	TPCN2 (D276N)	Single nucleotide variant (missense variant)	TPCN2-related condition	GLikely benign
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 2285784	NM_139075.4(TPCN2):c.863A>G (p.Tyr288Cys)	TPCN2 (Y288C)	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 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 3328265	NM_139075.4(TPCN2):c.953A>G (p.Tyr318Cys)	TPCN2 (Y318C)	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 2351715	NM_139075.4(TPCN2):c.1151G>A (p.Arg384His)	TPCN2 (R384H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2537342	NM_139075.4(TPCN2):c.1213A>G (p.Arg405Gly)	TPCN2 (R405G)	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 2259776	NM_139075.4(TPCN2):c.1253A>G (p.Gln418Arg)	TPCN2 (Q418R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2522646	NM_139075.4(TPCN2):c.1273G>A (p.Ala425Thr)	TPCN2 (A425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776636	NM_139075.4(TPCN2):c.1296C>T (p.Tyr432=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2542688	NM_139075.4(TPCN2):c.1305C>G (p.Asp435Glu)	TPCN2 (D435E)	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 3181494	NM_139075.4(TPCN2):c.1391G>A (p.Arg464His)	TPCN2 (R464H)	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 2383840	NM_139075.4(TPCN2):c.1423G>A (p.Val475Ile)	TPCN2 (V475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 2589472	NM_139075.4(TPCN2):c.1528G>A (p.Val510Ile)	TPCN2 (V510I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3181498	NM_139075.4(TPCN2):c.1630A>G (p.Thr544Ala)	TPCN2 (T544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708142	NM_139075.4(TPCN2):c.1653C>T (p.Ile551=)	TPCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2521866	NM_139075.4(TPCN2):c.1669C>T (p.Arg557Cys)	TPCN2 (R557C)	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 2557657	NM_139075.4(TPCN2):c.1738C>T (p.Arg580Cys)	TPCN2 (R580C)	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 3352781	NM_139075.4(TPCN2):c.1762-4C>A	TPCN2	Single nucleotide variant (intron variant)	TPCN2-related condition	GLikely benign
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 2598782	NM_139075.4(TPCN2):c.1847C>T (p.Pro616Leu)	TPCN2 (P616L)	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 742415	NM_139075.4(TPCN2):c.1921-4G>A	TPCN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2273904	NM_139075.4(TPCN2):c.2023G>C (p.Val675Leu)	TPCN2 (V675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773825	NM_139075.4(TPCN2):c.2042C>T (p.Ser681Leu)	TPCN2 (S681L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2378748	NM_139075.4(TPCN2):c.2200G>A (p.Gly734Arg)	TPCN2 (G734R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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

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Items: 87