55503[geneid] - 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	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +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	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +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	DYNC2I1, EN2 +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	LOC129999649, LOC129999650 +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	ABCB8, ABCF2 +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 3052361	NM_018646.6(TRPV6):c.*5G>A	TRPV6	Single nucleotide variant (3 prime UTR variant)	TRPV6-related disorder	GBenign
Select item 3183520	NM_018646.6(TRPV6):c.2278A>T (p.Ser760Cys)	TRPV6 (S760C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183519	NM_018646.6(TRPV6):c.2249T>C (p.Ile750Thr)	TRPV6 (I750T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520178	NM_018646.6(TRPV6):c.2243G>A (p.Arg748His)	TRPV6 (R748H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2857025	NM_018646.6(TRPV6):c.2227C>T (p.Leu743=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3183518	NM_018646.6(TRPV6):c.2212C>T (p.Leu738Phe)	TRPV6 (L738F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2800936	NM_018646.6(TRPV6):c.2202T>C (p.Asn734=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 2903560	NM_018646.6(TRPV6):c.2177G>C (p.Arg726Pro)	TRPV6 (R726P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291615	NM_018646.6(TRPV6):c.2177G>A (p.Arg726Gln)	TRPV6 (R726Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978562	NM_018646.6(TRPV6):c.2168C>T (p.Ser723Leu)	TRPV6 (S723L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786649	NM_018646.6(TRPV6):c.2162T>C (p.Met721Thr)	TRPV6 (M721T)	Single nucleotide variant (missense variant)	TRPV6-related disorder +1 more	GBenign
Select item 2888051	NM_018646.6(TRPV6):c.2153C>T (p.Ser718Phe)	TRPV6 (S718F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551896	NM_018646.6(TRPV6):c.2124G>C (p.Glu708Asp)	TRPV6 (E708D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388694	NM_018646.6(TRPV6):c.2080C>T (p.Arg694Trp)	TRPV6 (R694W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318306	NM_018646.6(TRPV6):c.2057G>A (p.Arg686His)	TRPV6 (R686H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332233	NM_018646.6(TRPV6):c.2041C>T (p.Arg681Trp)	TRPV6 (R681W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3013101	NM_018646.6(TRPV6):c.2035C>G (p.Leu679Val)	TRPV6 (L679V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493979	NM_018646.6(TRPV6):c.2035C>A (p.Leu679Ile)	TRPV6 (L679I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3021222	NM_018646.6(TRPV6):c.2016-11G>A	TRPV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954718	NM_018646.6(TRPV6):c.2016-18T>A	TRPV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954940	NM_018646.6(TRPV6):c.2015+17G>A	TRPV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2786650	NM_018646.6(TRPV6):c.1998A>G (p.Gly666=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 3043515	NM_018646.6(TRPV6):c.1981C>T (p.Arg661Trp)	TRPV6 (R661W)	Single nucleotide variant (missense variant)	TRPV6-related disorder	GLikely benign
Select item 818220	NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg)	TRPV6 (G660R)	Single nucleotide variant (missense variant)	Embryonic calcium dysregulation +3 more	GLikely pathogenic
Select item 2310237	NM_018646.6(TRPV6):c.1970G>T (p.Gly657Val)	TRPV6 (G657V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692410	NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg)	TRPV6 (G657R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2515013	NM_018646.6(TRPV6):c.1963C>T (p.Arg655Cys)	TRPV6 (R655C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396494	NM_018646.6(TRPV6):c.1936C>T (p.Arg646Trp)	TRPV6 (R646W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2798756	NM_018646.6(TRPV6):c.1923= (p.Thr641=)	TRPV6	Variation (no sequence alteration)	TRPV6-related disorder +1 more	GBenign
Select item 2286087	NM_018646.6(TRPV6):c.1922C>T (p.Thr641Ile)	TRPV6 (T641I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2855576	NM_018646.6(TRPV6):c.1920C>T (p.Thr640=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2726643	NM_018646.6(TRPV6):c.1909A>G (p.Ile637Val)	TRPV6 (I637V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2707201	NM_018646.6(TRPV6):c.1909-5C>T	TRPV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2707338	NM_018646.6(TRPV6):c.1909-12T>A	TRPV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020330	NM_018646.6(TRPV6):c.1908+16G>A	TRPV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 64566	NM_018646.6(TRPV6):c.1904C>A (p.Ala635Asp)	TRPV6 (A635D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982274	NM_018646.6(TRPV6):c.1825C>T (p.Leu609Phe)	TRPV6 (L609F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043599	NM_018646.6(TRPV6):c.1815C>T (p.Ile605=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder	GLikely benign
Select item 2209467	NM_018646.6(TRPV6):c.1780A>G (p.Met594Val)	TRPV6 (M594V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331661	NM_018646.6(TRPV6):c.1765G>A (p.Val589Met)	TRPV6 (V589M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730573	NM_018646.6(TRPV6):c.1764C>T (p.Asn588=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign/Likely benign
Select item 3183515	NM_018646.6(TRPV6):c.1754C>T (p.Ala585Val)	TRPV6 (A585V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992367	NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn)	TRPV6 (D582N)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GUncertain significance
Select item 2544351	NM_018646.6(TRPV6):c.1672G>A (p.Glu558Lys)	TRPV6 (E558K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932914	NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys)	TRPV6 (Y549C)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 3183514	NM_018646.6(TRPV6):c.1611G>A (p.Met537Ile)	TRPV6 (M537I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2723445	NM_018646.6(TRPV6):c.1602C>T (p.Cys534=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3183513	NM_018646.6(TRPV6):c.1587C>A (p.Asp529Glu)	TRPV6 (D529E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023364	NM_018646.6(TRPV6):c.1572+17A>G	TRPV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957184	NM_018646.6(TRPV6):c.1572+14C>T	TRPV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 64565	NM_018646.6(TRPV6):c.1558A>C (p.Ile520Leu)	TRPV6 (I520L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624378	NM_018646.6(TRPV6):c.1525G>A (p.Ala509Thr)	TRPV6 (A509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393529	NM_018646.6(TRPV6):c.1513G>A (p.Val505Ile)	TRPV6 (V505I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2799920	NM_018646.6(TRPV6):c.1512C>T (p.Asn504=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 2305286	NM_018646.6(TRPV6):c.1492C>T (p.Leu498Phe)	TRPV6 (L498F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64564	NM_018646.6(TRPV6):c.1463G>A (p.Ser488Asn)	TRPV6 (S488N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982275	NM_018646.6(TRPV6):c.1448G>A (p.Arg483Gln)	TRPV6 (R483Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692132	NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp)	TRPV6 (R483W)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 2863320	NM_018646.6(TRPV6):c.1407-5C>T	TRPV6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2786651	NM_018646.6(TRPV6):c.1406+8T>C	TRPV6	Single nucleotide variant (intron variant)	TRPV6-related disorder +1 more	GBenign
Select item 3183512	NM_018646.6(TRPV6):c.1360C>T (p.Arg454Cys)	TRPV6 (R454C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590768	NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)	TRPV6 (G451E)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 1711662	NM_018646.6(TRPV6):c.1338C>T (p.Asp446=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692131	NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg)	TRPV6 (G428R)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 590767	NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)	TRPV6 (R425Q)	Single nucleotide variant (missense variant)	Hyperparathyroidism, transient neonatal	GLikely pathogenic
Select item 2205139	NM_018646.6(TRPV6):c.1258C>G (p.Pro420Ala)	TRPV6 (P420A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2716469	NM_018646.6(TRPV6):c.1253T>C (p.Met418Thr)	TRPV6 (M418T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786652	NM_018646.6(TRPV6):c.1252A>G (p.Met418Val)	TRPV6 (M418V)	Single nucleotide variant (missense variant)	TRPV6-related disorder +1 more	GBenign
Select item 3041393	NM_018646.6(TRPV6):c.1248C>A (p.Ala416=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder	GLikely benign
Select item 2879810	NM_018646.6(TRPV6):c.1242+10T>C	TRPV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702400	NM_018646.6(TRPV6):c.1216A>G (p.Thr406Ala)	TRPV6 (T406A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786654	NM_018646.6(TRPV6):c.1200G>A (p.Thr400=)	TRPV6	Single nucleotide variant (synonymous variant)	TRPV6-related disorder +1 more	GBenign
Select item 2405280	NM_018646.6(TRPV6):c.1195C>T (p.Arg399Cys)	TRPV6 (R399C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061798	NM_018646.6(TRPV6):c.1168C>T (p.Arg390Cys)	EPHB6, TRPV6 (R390C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2752589	NM_018646.6(TRPV6):c.1141A>G (p.Ile381Val)	TRPV6 (I381V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2847333	NM_018646.6(TRPV6):c.1131G>A (p.Leu377=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2716275	NM_018646.6(TRPV6):c.1110C>T (p.Cys370=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2723083	NM_018646.6(TRPV6):c.1101G>A (p.Pro367=)	TRPV6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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