1299[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1183916	NC_000020.11:g.62817046G>T	COL9A3	Single nucleotide variant	not provided	GLikely benign
Select item 2429509	NM_001853.4(COL9A3):c.5C>T (p.Ala2Val)	COL9A3 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235240	NM_001853.4(COL9A3):c.5C>A (p.Ala2Asp)	COL9A3 (A2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2034095	NM_001853.4(COL9A3):c.9del (p.Pro4fs)	COL9A3 (P4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1921205	NM_001853.4(COL9A3):c.7G>C (p.Gly3Arg)	COL9A3 (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507726	NM_001853.4(COL9A3):c.10C>G (p.Pro4Ala)	COL9A3 (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314108	NM_001853.4(COL9A3):c.11C>T (p.Pro4Leu)	COL9A3 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804296	NM_001853.4(COL9A3):c.13C>A (p.Arg5Ser)	COL9A3 (R5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315133	NM_001853.4(COL9A3):c.13C>T (p.Arg5Cys)	COL9A3 (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843948	NM_001853.4(COL9A3):c.15C>T (p.Arg5=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058937	NM_001853.4(COL9A3):c.17C>T (p.Ala6Val)	COL9A3 (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013729	NM_001853.4(COL9A3):c.18G>A (p.Ala6=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576341	NM_001853.4(COL9A3):c.18G>T (p.Ala6=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426860	NM_001853.4(COL9A3):c.19T>A (p.Cys7Ser)	COL9A3 (C7S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1540539	NM_001853.4(COL9A3):c.21C>T (p.Cys7=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915027	NM_001853.4(COL9A3):c.22G>A (p.Ala8Thr)	COL9A3 (A8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819384	NM_001853.4(COL9A3):c.23C>T (p.Ala8Val)	COL9A3 (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464984	NM_001853.4(COL9A3):c.25C>T (p.Pro9Ser)	COL9A3 (P9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1943211	NM_001853.4(COL9A3):c.26C>G (p.Pro9Arg)	COL9A3 (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486712	NM_001853.4(COL9A3):c.31CTGCTC[5] (p.Leu13_Leu16dup)	COL9A3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1422320	NM_001853.4(COL9A3):c.31CTGCTC[4] (p.Leu15_Leu16dup)	COL9A3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1224425	NM_001853.4(COL9A3):c.26C>T (p.Pro9Leu)	COL9A3 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980903	NM_001853.4(COL9A3):c.27G>T (p.Pro9=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912695	NM_001853.4(COL9A3):c.31CTGCTC[2] (p.Leu15_Leu16del)	COL9A3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2847848	NM_001853.4(COL9A3):c.28C>G (p.Leu10Val)	COL9A3 (L10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652508	NM_001853.4(COL9A3):c.33G>A (p.Leu11=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471822	NM_001853.4(COL9A3):c.38_49dup (p.Leu16_Gly17insValLeuLeuLeu)	COL9A3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2784581	NM_001853.4(COL9A3):c.38T>C (p.Leu13Pro)	COL9A3 (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979723	NM_001853.4(COL9A3):c.39G>T (p.Leu13=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897166	NM_001853.4(COL9A3):c.39G>C (p.Leu13=)	COL9A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3067632	NM_001853.4(COL9A3):c.40C>G (p.Leu14Val)	COL9A3 (L14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095391	NM_001853.4(COL9A3):c.43C>T (p.Leu15=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737336	NM_001853.4(COL9A3):c.46C>T (p.Leu16Phe)	COL9A3 (L16F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844434	NM_001853.4(COL9A3):c.48C>G (p.Leu16=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652509	NM_001853.4(COL9A3):c.49G>C (p.Gly17Arg)	COL9A3 (G17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193218	NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)	COL9A3 (G17E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2060515	NM_001853.4(COL9A3):c.51G>A (p.Gly17=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954178	NM_001853.4(COL9A3):c.57T>A (p.Leu19=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716531	NM_001853.4(COL9A3):c.58C>A (p.Leu20Met)	COL9A3 (L20M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671260	NM_001853.4(COL9A3):c.60G>A (p.Leu20=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056783	NM_001853.4(COL9A3):c.62C>A (p.Ala21Glu)	COL9A3 (A21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088652	NM_001853.4(COL9A3):c.63G>A (p.Ala21=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289663	NM_001853.4(COL9A3):c.72G>A (p.Gly24=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1938738	NM_001853.4(COL9A3):c.73G>A (p.Ala25Thr)	COL9A3 (A25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510445	NM_001853.4(COL9A3):c.74C>A (p.Ala25Glu)	COL9A3 (A25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989542	NM_001853.4(COL9A3):c.76C>A (p.Gln26Lys)	COL9A3 (Q26K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020927	NM_001853.4(COL9A3):c.77A>C (p.Gln26Pro)	COL9A3 (Q26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339263	NM_001853.4(COL9A3):c.78+6C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787118	NM_001853.4(COL9A3):c.78+18G>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212691	NM_001853.4(COL9A3):c.78+96C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228720	NM_001853.4(COL9A3):c.79-140del	COL9A3	Deletion (intron variant)	not provided	GBenign
Select item 1196919	NM_001853.4(COL9A3):c.79-131A>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108732	NM_001853.4(COL9A3):c.79-14T>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419592	NM_001853.4(COL9A3):c.79-11C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374632	NM_001853.4(COL9A3):c.79-9C>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724745	NM_001853.4(COL9A3):c.79-7G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737679	NM_001853.4(COL9A3):c.79-4T>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935634	NM_001853.4(COL9A3):c.79-3C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2044201	NM_001853.4(COL9A3):c.79-2A>G	COL9A3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1380072	NM_001853.4(COL9A3):c.79-1G>A	COL9A3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1919919	NM_001853.4(COL9A3):c.80G>C (p.Arg27Thr)	COL9A3 (R27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133183	NM_001853.4(COL9A3):c.82G>C (p.Val28Leu)	COL9A3 (V28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378298	NM_001853.4(COL9A3):c.82G>A (p.Val28Met)	COL9A3 (V28M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013128	NM_001853.4(COL9A3):c.85G>A (p.Gly29Arg)	COL9A3 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218322	NM_001853.4(COL9A3):c.86G>T (p.Gly29Val)	COL9A3 (G29V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2847862	NM_001853.4(COL9A3):c.93CGGCCCCCC[3] (p.Gly41_Lys42insProProGly)	COL9A3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1899452	NM_001853.4(COL9A3):c.93_110del (p.33PPG[1])	COL9A3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 339265	NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2])	COL9A3	Microsatellite (inframe_deletion)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 1471120	NM_001853.4(COL9A3):c.91C>T (p.Pro31Ser)	COL9A3 (P31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195154	NM_001853.4(COL9A3):c.93C>A (p.Pro31=)	COL9A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1467909	NM_001853.4(COL9A3):c.102dup (p.Gly35fs)	COL9A3 (G35fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1437544	NM_001853.4(COL9A3):c.95G>A (p.Gly32Asp)	COL9A3 (G32D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031897	NM_001853.4(COL9A3):c.96C>A (p.Gly32=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738208	NM_001853.4(COL9A3):c.96C>T (p.Gly32=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512599	NM_001853.4(COL9A3):c.97C>G (p.Pro33Ala)	COL9A3 (P33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426054	NM_001853.4(COL9A3):c.97C>A (p.Pro33Thr)	COL9A3 (P33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359740	NM_001853.4(COL9A3):c.97C>T (p.Pro33Ser)	COL9A3 (P33S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1352708	NM_001853.4(COL9A3):c.98C>A (p.Pro33His)	COL9A3 (P33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136477	NM_001853.4(COL9A3):c.99C>A (p.Pro33=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346745	NM_001853.4(COL9A3):c.101C>G (p.Pro34Arg)	COL9A3 (P34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550203	NM_001853.4(COL9A3):c.102C>T (p.Pro34=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462627	NM_001853.4(COL9A3):c.107_116del (p.Pro36fs)	COL9A3 (P36fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1440462	NM_001853.4(COL9A3):c.103G>A (p.Gly35Ser)	COL9A3 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686596	NM_001853.4(COL9A3):c.104G>A (p.Gly35Asp)	COL9A3 (G35D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2880706	NM_001853.4(COL9A3):c.105C>T (p.Gly35=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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