26146[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 1286072	NC_000002.12:g.238320388C>G	LOC129935941, TRAF3IP1	Single nucleotide variant	not provided	GBenign
Select item 1248120	NC_000002.12:g.238320388C>A	LOC129935941, TRAF3IP1	Single nucleotide variant	not provided	GBenign
Select item 1281208	NM_015650.4(TRAF3IP1):c.-99del	LOC129935941, TRAF3IP1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 591888	NM_015650.4(TRAF3IP1):c.3G>T (p.Met1Ile)	TRAF3IP1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 849243	NM_015650.4(TRAF3IP1):c.8C>G (p.Ala3Gly)	TRAF3IP1 (A3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634440	NM_015650.4(TRAF3IP1):c.18G>A (p.Val6=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 966360	NM_015650.4(TRAF3IP1):c.22C>T (p.Arg8Trp)	TRAF3IP1 (R8W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351316	NM_015650.4(TRAF3IP1):c.23G>A (p.Arg8Gln)	TRAF3IP1 (R8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127660	NM_015650.4(TRAF3IP1):c.26C>T (p.Thr9Met)	TRAF3IP1 (T9M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369187	NM_015650.4(TRAF3IP1):c.26C>G (p.Thr9Arg)	TRAF3IP1 (T9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017060	NM_015650.4(TRAF3IP1):c.34G>T (p.Ala12Ser)	TRAF3IP1 (A12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969696	NM_015650.4(TRAF3IP1):c.42G>C (p.Gly14=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498181	NM_015650.4(TRAF3IP1):c.44A>G (p.Lys15Arg)	TRAF3IP1 (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254150	NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met)	TRAF3IP1 (I17M)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GPathogenic
Select item 2302346	NM_015650.4(TRAF3IP1):c.52C>T (p.Arg18Trp)	TRAF3IP1 (R18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364691	NM_015650.4(TRAF3IP1):c.56G>T (p.Arg19Met)	TRAF3IP1 (R19M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957022	NM_015650.4(TRAF3IP1):c.57G>T (p.Arg19Ser)	TRAF3IP1 (R19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365122	NM_015650.4(TRAF3IP1):c.68C>T (p.Thr23Ile)	TRAF3IP1 (T23I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 954315	NM_015650.4(TRAF3IP1):c.68_69delinsTA (p.Thr23Ile)	TRAF3IP1 (T23I)	Indel (missense variant)	not provided	GUncertain significance
Select item 1565174	NM_015650.4(TRAF3IP1):c.69C>G (p.Thr23=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168003	NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 951276	NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser)	TRAF3IP1 (P30S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067768	NM_015650.4(TRAF3IP1):c.89C>T (p.Pro30Leu)	TRAF3IP1 (P30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934652	NM_015650.4(TRAF3IP1):c.90C>G (p.Pro30=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641429	NM_015650.4(TRAF3IP1):c.93G>A (p.Pro31=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1155683	NM_015650.4(TRAF3IP1):c.96C>T (p.Phe32=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133724	NM_015650.4(TRAF3IP1):c.101A>G (p.Tyr34Cys)	TRAF3IP1 (Y34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808977	NM_015650.4(TRAF3IP1):c.102C>T (p.Tyr34=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749216	NM_015650.4(TRAF3IP1):c.103C>T (p.Leu35=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073698	NM_015650.4(TRAF3IP1):c.108C>T (p.His36=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1016246	NM_015650.4(TRAF3IP1):c.113TCA[1] (p.Ile39del)	TRAF3IP1 (I39del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2114275	NM_015650.4(TRAF3IP1):c.114C>T (p.Ile38=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 858440	NM_015650.4(TRAF3IP1):c.115A>G (p.Ile39Val)	TRAF3IP1 (I39V)	Single nucleotide variant (missense variant)	TRAF3IP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1590923	NM_015650.4(TRAF3IP1):c.117C>T (p.Ile39=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804217	NM_015650.4(TRAF3IP1):c.118A>G (p.Thr40Ala)	TRAF3IP1 (T40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759771	NM_015650.4(TRAF3IP1):c.123+1G>T	LOC129935942, TRAF3IP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2089549	NM_015650.4(TRAF3IP1):c.123+10G>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167272	NM_015650.4(TRAF3IP1):c.123+14A>G	TRAF3IP1, LOC129935942	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957222	NM_015650.4(TRAF3IP1):c.123+16C>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957580	NM_015650.4(TRAF3IP1):c.123+17G>A	TRAF3IP1, LOC129935942	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272429	NM_015650.4(TRAF3IP1):c.123+154G>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246483	NM_015650.4(TRAF3IP1):c.123+218G>A	LOC129935942, TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245010	NM_015650.4(TRAF3IP1):c.124-215T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1615112	NM_015650.4(TRAF3IP1):c.124-15C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904212	NM_015650.4(TRAF3IP1):c.124-13T>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711363	NM_015650.4(TRAF3IP1):c.124-6T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452924	NM_015650.4(TRAF3IP1):c.124-5T>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1060694	NM_015650.4(TRAF3IP1):c.145A>C (p.Met49Leu)	TRAF3IP1 (M49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027992	NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp)	TRAF3IP1 (G51D)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 9	GUncertain significance
Select item 743149	NM_015650.4(TRAF3IP1):c.165C>T (p.Asp55=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1111028	NM_015650.4(TRAF3IP1):c.168C>T (p.Ala56=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 446655	NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys)	TRAF3IP1 (E57K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GPathogenic/Likely pathogenic
Select item 1416206	NM_015650.4(TRAF3IP1):c.173T>C (p.Met58Thr)	TRAF3IP1 (M58T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035179	NM_015650.4(TRAF3IP1):c.177G>A (p.Lys59=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653408	NM_015650.4(TRAF3IP1):c.186T>C (p.Asn62=)	TRAF3IP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1035683	NM_015650.4(TRAF3IP1):c.192+1G>C	TRAF3IP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1664229	NM_015650.4(TRAF3IP1):c.192+11G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607779	NM_015650.4(TRAF3IP1):c.192+13C>T	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637012	NM_015650.4(TRAF3IP1):c.192+14G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602558	NM_015650.4(TRAF3IP1):c.192+15G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014212	NM_015650.4(TRAF3IP1):c.192+16G>A	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052629	NM_015650.4(TRAF3IP1):c.192+19T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289855	NM_015650.4(TRAF3IP1):c.192+94T>C	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268324	NM_015650.4(TRAF3IP1):c.193-54A>G	TRAF3IP1	Single nucleotide variant (intron variant)	not provided	GBenign

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