TRPV5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 3183504	NM_019841.7(TRPV5):c.2170G>A (p.Glu724Lys)	TRPV5 (E724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367776	NM_019841.7(TRPV5):c.2129G>A (p.Gly710Glu)	TRPV5 (G710E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329346	NM_019841.7(TRPV5):c.2102G>C (p.Trp701Ser)	TRPV5 (W701S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377244	NM_019841.7(TRPV5):c.2075C>T (p.Ala692Val)	TRPV5 (A692V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049158	NM_019841.7(TRPV5):c.2042T>C (p.Leu681Ser)	TRPV5 (L681S)	Single nucleotide variant (missense variant)	TRPV5-related disorder	GLikely benign
Select item 2216720	NM_019841.7(TRPV5):c.2011G>A (p.Ala671Thr)	TRPV5 (A671T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 64570	NM_019841.7(TRPV5):c.1968G>A (p.Lys656=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2459045	NM_019841.7(TRPV5):c.1928G>A (p.Arg643Gln)	TRPV5 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329352	NM_019841.7(TRPV5):c.1906C>T (p.His636Tyr)	TRPV5 (H636Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64569	NM_019841.7(TRPV5):c.1829G>A (p.Arg610His)	TRPV5 (R610H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500119	NM_019841.7(TRPV5):c.1792G>A (p.Val598Met)	TRPV5 (V598M)	Single nucleotide variant (missense variant)	Renal Calcium Wasting Hypercalciuria	GPathogenic
Select item 2315042	NM_019841.7(TRPV5):c.1790T>C (p.Val597Ala)	TRPV5 (V597A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769200	NM_019841.7(TRPV5):c.1687A>G (p.Thr563Ala)	TRPV5 (T563A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3052975	NM_019841.7(TRPV5):c.1681G>A (p.Ala561Thr)	TRPV5 (A561T)	Single nucleotide variant (missense variant)	TRPV5-related disorder	GLikely benign
Select item 2550149	NM_019841.7(TRPV5):c.1681G>C (p.Ala561Pro)	TRPV5 (A561P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412153	NM_019841.7(TRPV5):c.1397T>C (p.Met466Thr)	TRPV5 (M466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273428	NM_019841.7(TRPV5):c.1396A>G (p.Met466Val)	TRPV5 (M466V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183503	NM_019841.7(TRPV5):c.1382G>A (p.Gly461Asp)	TRPV5 (G461D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495490	NM_019841.7(TRPV5):c.1277A>G (p.His426Arg)	TRPV5 (H426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183502	NM_019841.7(TRPV5):c.1241G>A (p.Arg414His)	TRPV5 (R414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542330	NM_019841.7(TRPV5):c.1100T>C (p.Ile367Thr)	TRPV5 (I367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64568	NM_019841.7(TRPV5):c.1035G>A (p.Thr345=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2537676	NM_019841.7(TRPV5):c.1034C>T (p.Thr345Met)	TRPV5 (T345M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768211	NM_019841.7(TRPV5):c.1032T>C (p.Thr344=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265200	NM_019841.7(TRPV5):c.1022T>A (p.Ile341Asn)	TRPV5 (I341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318421	NM_019841.7(TRPV5):c.982T>C (p.Tyr328His)	TRPV5 (Y328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183511	NM_019841.7(TRPV5):c.980C>T (p.Pro327Leu)	TRPV5 (P327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588058	NM_019841.7(TRPV5):c.977G>A (p.Arg326Gln)	TRPV5 (R326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309668	NM_019841.7(TRPV5):c.976C>T (p.Arg326Trp)	TRPV5 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64574	NM_019841.7(TRPV5):c.966C>T (p.Asn322=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2293281	NM_019841.7(TRPV5):c.851A>G (p.Asp284Gly)	TRPV5 (D284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768212	NM_019841.7(TRPV5):c.843G>A (p.Thr281=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3183509	NM_019841.7(TRPV5):c.821C>T (p.Thr274Ile)	TRPV5 (T274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784121	NM_019841.7(TRPV5):c.787C>T (p.Arg263Trp)	TRPV5 (R263W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3329348	NM_019841.7(TRPV5):c.765G>A (p.Met255Ile)	TRPV5 (M255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329349	NM_019841.7(TRPV5):c.740C>T (p.Ala247Val)	TRPV5 (A247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296618	NM_019841.7(TRPV5):c.727C>T (p.Pro243Ser)	TRPV5 (P243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183508	NM_019841.7(TRPV5):c.706C>T (p.Pro236Ser)	TRPV5 (P236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183507	NM_019841.7(TRPV5):c.669T>G (p.Asp223Glu)	TRPV5 (D223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768213	NM_019841.7(TRPV5):c.666T>C (p.Tyr222=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3329347	NM_019841.7(TRPV5):c.571G>A (p.Ala191Thr)	TRPV5 (A191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303145	NM_019841.7(TRPV5):c.539G>A (p.Arg180Gln)	TRPV5 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64573	NM_019841.7(TRPV5):c.535G>A (p.Val179Met)	TRPV5 (V179M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227702	NM_019841.7(TRPV5):c.472A>C (p.Asn158His)	TRPV5 (N158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64572	NM_019841.7(TRPV5):c.470G>A (p.Arg157His)	TRPV5 (R157H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768214	NM_019841.7(TRPV5):c.461A>G (p.His154Arg)	TRPV5 (H154R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2253934	NM_019841.7(TRPV5):c.458G>A (p.Arg153His)	TRPV5 (R153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385687	NM_019841.7(TRPV5):c.457C>T (p.Arg153Cys)	TRPV5 (R153C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183505	NM_019841.7(TRPV5):c.326C>T (p.Pro109Leu)	TRPV5 (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485756	NM_019841.7(TRPV5):c.284C>G (p.Ala95Gly)	TRPV5 (A95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493978	NM_019841.7(TRPV5):c.266A>G (p.Tyr89Cys)	TRPV5 (Y89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521194	NM_019841.7(TRPV5):c.148C>T (p.Leu50Phe)	TRPV5 (L50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604268	NM_019841.7(TRPV5):c.113T>C (p.Met38Thr)	TRPV5 (M38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183500	NM_019841.7(TRPV5):c.100G>A (p.Asp34Asn)	TRPV5 (D34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714771	NM_019841.7(TRPV5):c.68T>C (p.Leu23Pro)	TRPV5 (L23P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3183506	NM_019841.7(TRPV5):c.62C>A (p.Ser21Tyr)	TRPV5 (S21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64571	NM_019841.7(TRPV5):c.33C>T (p.Pro11=)	TRPV5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2599998	NM_019841.7(TRPV5):c.13C>A (p.Leu5Ile)	TRPV5 (L5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1705936	GRCh37/hg19 7q34(chr7:141937588-142716850)x3	EPHB6, KEL +7 more	Copy number gain	Newborn respiratory distress syndrome	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689031	GRCh37/hg19 7q34(chr7:142565890-142706787)x3	EPHB6, KEL +3 more	Copy number gain	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 688162	GRCh37/hg19 7q34(chr7:142568958-142706787)x3	KEL, LLCFC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic

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