ClinVar for Gene (Select 162514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183499	NM_145068.4(TRPV3):c.874C>T (p.Arg292Trp)	TRPV3 (R292W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183498	NM_145068.4(TRPV3):c.793C>A (p.Pro265Thr)	TRPV3 (P265T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183497	NM_145068.4(TRPV3):c.653C>T (p.Ala218Val)	TRPV3 (A218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183496	NM_145068.4(TRPV3):c.49G>A (p.Ala17Thr)	TRPV3 (A17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3183495	NM_145068.4(TRPV3):c.475A>G (p.Met159Val)	TRPV3 (M159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183494	NM_145068.4(TRPV3):c.259C>G (p.Gln87Glu)	TRPV3 (Q87E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183493	NM_145068.4(TRPV3):c.2348A>G (p.Glu783Gly)	TRPV3 (E783G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183492	NM_145068.4(TRPV3):c.217C>T (p.Arg73Trp)	TRPV3 (R73W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183491	NM_145068.4(TRPV3):c.1901A>G (p.Lys634Arg)	TRPV3 (K634R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183490	NM_145068.4(TRPV3):c.1699C>T (p.Arg567Trp)	TRPV3 (R567W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183489	NM_145068.4(TRPV3):c.1578T>C (p.Phe526=)	TRPV3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3183488	NM_145068.4(TRPV3):c.1528C>T (p.Pro510Ser)	TRPV3 (P510S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183487	NM_145068.4(TRPV3):c.146G>A (p.Gly49Glu)	TRPV3 (G49E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183486	NM_145068.4(TRPV3):c.1372G>A (p.Val458Ile)	TRPV3 (V458I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183485	NM_145068.4(TRPV3):c.1181A>C (p.Asn394Thr)	TRPV3 (N394T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183484	NM_145068.4(TRPV3):c.1153G>A (p.Val385Met)	TRPV3 (V385M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183483	NM_145068.4(TRPV3):c.1028C>T (p.Thr343Met)	TRPV3 (T343M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063514	GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1	ASPA, OR1E1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063494	GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	ASPA, LOC100288728 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3041536	NM_145068.4(TRPV3):c.1653C>T (p.Leu551=)	TRPV3	Single nucleotide variant (synonymous variant)	TRPV3-related condition	GLikely benign
Select item 3035298	NM_145068.4(TRPV3):c.624C>T (p.Tyr208=)	TRPV3	Single nucleotide variant (synonymous variant)	TRPV3-related condition	GLikely benign
Select item 3033803	NM_145068.4(TRPV3):c.639T>C (p.Tyr213=)	TRPV3	Single nucleotide variant (synonymous variant)	TRPV3-related condition	GLikely benign
Select item 3013183	NM_145068.4(TRPV3):c.1188C>T (p.Asp396=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996326	NM_145068.4(TRPV3):c.1249C>G (p.His417Asp)	TRPV3 (H417D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991802	NM_145068.4(TRPV3):c.625A>G (p.Thr209Ala)	TRPV3 (T209A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990914	NM_145068.4(TRPV3):c.1170C>T (p.Tyr390=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959393	NM_145068.4(TRPV3):c.2279-19A>G	TRPV3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959286	NM_145068.4(TRPV3):c.1190C>T (p.Thr397Ile)	TRPV3 (T397I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955308	NM_145068.4(TRPV3):c.928T>C (p.Phe310Leu)	TRPV3 (F310L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919710	NM_145068.4(TRPV3):c.825C>T (p.Pro275=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2919231	NM_145068.4(TRPV3):c.1645G>A (p.Ala549Thr)	TRPV3 (A549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914864	NM_145068.4(TRPV3):c.1134C>T (p.Thr378=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896305	NM_145068.4(TRPV3):c.1504-3T>C	TRPV3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2893857	NM_145068.4(TRPV3):c.2258C>T (p.Pro753Leu)	TRPV3 (P753L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2892231	NM_145068.4(TRPV3):c.364C>T (p.Arg122Cys)	TRPV3 (R122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884739	NM_145068.4(TRPV3):c.246C>T (p.Asp82=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867423	NM_145068.4(TRPV3):c.1879G>A (p.Asp627Asn)	TRPV3 (D627N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866531	NM_145068.4(TRPV3):c.1450C>T (p.Leu484Phe)	TRPV3 (L484F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857074	NM_145068.4(TRPV3):c.2113A>G (p.Lys705Glu)	TRPV3 (K705E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849959	NM_145068.4(TRPV3):c.119+20G>C	TRPV3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847330	NM_145068.4(TRPV3):c.652G>A (p.Ala218Thr)	TRPV3 (A218T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844578	NM_145068.4(TRPV3):c.49G>C (p.Ala17Pro)	TRPV3 (A17P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842328	NM_145068.4(TRPV3):c.1242+1G>T	TRPV3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2834930	NM_145068.4(TRPV3):c.644-5C>T	TRPV3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824203	NM_145068.4(TRPV3):c.1456G>C (p.Gly486Arg)	TRPV3 (G486R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803232	NM_145068.4(TRPV3):c.644-1G>A	TRPV3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2745477	NM_145068.4(TRPV3):c.979C>T (p.Arg327Trp)	TRPV3 (R327W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736755	NM_145068.4(TRPV3):c.2278+8C>T	TRPV3	Single nucleotide variant (intron variant)	TRPV3-related condition +1 more	GBenign/Likely benign
Select item 2727498	NM_145068.4(TRPV3):c.293C>T (p.Ser98Phe)	TRPV3 (S98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725776	NM_145068.4(TRPV3):c.2259G>A (p.Pro753=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722346	NM_145068.4(TRPV3):c.1402-7C>G	TRPV3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721187	NM_145068.4(TRPV3):c.963C>T (p.Tyr321=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711777	NM_145068.4(TRPV3):c.495C>T (p.Ser165=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685594	GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	ASPA, CLUH +16 more	Copy number loss	not provided	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647234	NM_145068.4(TRPV3):c.199C>T (p.Pro67Ser)	TRPV3 (P67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2615478	NM_145068.4(TRPV3):c.736A>G (p.Lys246Glu)	TRPV3 (K246E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2559477	NM_145068.4(TRPV3):c.1495G>C (p.Val499Leu)	TRPV3 (V499L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553808	NM_145068.4(TRPV3):c.652G>C (p.Ala218Pro)	TRPV3 (A218P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507635	NM_145068.4(TRPV3):c.347A>C (p.Lys116Thr)	TRPV3 (K116T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489025	NM_145068.4(TRPV3):c.1391G>A (p.Arg464Gln)	TRPV3 (R464Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485890	NM_145068.4(TRPV3):c.42G>T (p.Lys14Asn)	TRPV3 (K14N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481106	NM_145068.4(TRPV3):c.652G>T (p.Ala218Ser)	TRPV3 (A218S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437343	NM_145068.4(TRPV3):c.1676G>A (p.Trp559Ter)	TRPV3 (W559*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2425848	NC_000017.10:g.(?_3447853)_(3571820_?)dup	CTNS, SHPK +3 more	Duplication	not provided	GUncertain significance
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 2402302	NM_145068.4(TRPV3):c.2258C>G (p.Pro753Arg)	TRPV3 (P753R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364654	NM_145068.4(TRPV3):c.1010G>A (p.Arg337His)	TRPV3 (R337H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342164	NM_145068.4(TRPV3):c.296A>C (p.Asn99Thr)	TRPV3 (N99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331839	NM_145068.4(TRPV3):c.476T>C (p.Met159Thr)	TRPV3 (M159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327725	NM_145068.4(TRPV3):c.353G>A (p.Arg118Gln)	TRPV3 (R118Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318714	NM_145068.4(TRPV3):c.1237A>C (p.Ile413Leu)	TRPV3 (I413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286252	NM_145068.4(TRPV3):c.2221G>A (p.Glu741Lys)	TRPV3 (E741K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282884	NM_145068.4(TRPV3):c.1251T>G (p.His417Gln)	TRPV3 (H417Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281479	NM_145068.4(TRPV3):c.1255A>G (p.Met419Val)	TRPV3 (M419V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260168	NM_145068.4(TRPV3):c.500C>A (p.Thr167Lys)	TRPV3 (T167K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249478	NM_145068.4(TRPV3):c.389G>T (p.Gly130Val)	TRPV3 (G130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232836	NM_145068.4(TRPV3):c.809C>T (p.Ala270Val)	TRPV3 (A270V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206452	NM_145068.4(TRPV3):c.1112G>A (p.Arg371Gln)	TRPV3 (R371Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202591	NM_145068.4(TRPV3):c.352C>T (p.Arg118Trp)	TRPV3 (R118W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192096	NM_145068.4(TRPV3):c.1878C>A (p.Ser626Arg)	TRPV3 (S626R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2174860	NM_145068.4(TRPV3):c.903C>T (p.His301=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2171882	NM_145068.4(TRPV3):c.2262G>T (p.Gly754=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168012	NM_145068.4(TRPV3):c.1695T>C (p.Tyr565=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164790	NM_145068.4(TRPV3):c.72_73inv (p.Ile25Val)	TRPV3 (I25V)	Inversion (missense variant)	not provided	GLikely benign
Select item 2164219	NM_145068.4(TRPV3):c.2173G>A (p.Glu725Lys)	TRPV3 (E725K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2158026	NM_145068.4(TRPV3):c.1786G>A (p.Val596Met)	TRPV3 (V596M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110351	NM_145068.4(TRPV3):c.117G>A (p.Lys39=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085865	NM_145068.4(TRPV3):c.93G>A (p.Pro31=)	TRPV3	Single nucleotide variant (synonymous variant)	TRPV3-related condition +1 more	GLikely benign
Select item 2081413	NM_145068.4(TRPV3):c.2149A>T (p.Met717Leu)	TRPV3 (M717L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079284	NM_145068.4(TRPV3):c.1246C>T (p.Arg416Trp)	TRPV3 (R416W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2078057	NM_145068.4(TRPV3):c.488C>T (p.Thr163Met)	TRPV3 (T163M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074801	NM_145068.4(TRPV3):c.1280C>T (p.Thr427Met)	TRPV3 (T427M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072791	NM_145068.4(TRPV3):c.2232G>A (p.Thr744=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066767	NM_145068.4(TRPV3):c.2278+5T>C	TRPV3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066642	NM_145068.4(TRPV3):c.2279-10T>A	TRPV3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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