21637[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 821

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 58813	GRCh38/hg38 2q33.1(chr2:198024870-199489395)x1	LINC01923, LOC112806073 +8 more	Copy number loss	See cases	GPathogenic
Select item 149934	GRCh38/hg38 2q33.1(chr2:198496240-199425531)x1	LOC126806462, SATB2	Copy number loss	See cases	GPathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 579062	NM_001172509.2(SATB2):c.2196G>T (p.Gln732His)	LOC126806462, SATB2 (Q732H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1354101	NM_001172509.2(SATB2):c.2190T>A (p.Ile730=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 660219	NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr)	LOC126806462, SATB2 (I730T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 658810	NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys)	LOC126806462, SATB2 (E729K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2737199	NM_001172509.2(SATB2):c.2184C>A (p.Ala728=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 654229	NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly)	LOC126806462, SATB2 (A728G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1023416	NM_001172509.2(SATB2):c.2182G>C (p.Ala728Pro)	LOC126806462, SATB2 (A728P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1109432	NM_001172509.2(SATB2):c.2178A>G (p.Ala726=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1673223	NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val)	LOC126806462, SATB2 (A726V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 469553	NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr)	LOC126806462, SATB2 (A726T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +2 more	GBenign/Likely benign
Select item 938268	NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val)	LOC126806462, SATB2 (A725V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1104360	NM_001172509.2(SATB2):c.2172G>A (p.Lys724=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 589091	NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn)	LOC126806462, SATB2 (K724N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GBenign/Likely benign
Select item 2822522	NM_001172509.2(SATB2):c.2167del (p.Ser723fs)	LOC126806462, SATB2 (S723fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1517098	NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln)	LOC126806462, SATB2 (K722Q)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2298927	NM_001172509.2(SATB2):c.2161G>A (p.Asp721Asn)	LOC126806462, SATB2 (D721N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1035050	NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr)	LOC126806462, SATB2 (A720T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 1786763	NM_001172509.2(SATB2):c.2151G>A (p.Glu717=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 744892	NM_001172509.2(SATB2):c.2145T>C (p.Ala715=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1315184	NM_001172509.2(SATB2):c.2137G>A (p.Val713Met)	LOC126806462, SATB2 (V713M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648172	NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg)	LOC126806462, SATB2 (K712R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 1385085	NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile)	LOC126806462, SATB2 (M710I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627304	NM_001172509.2(SATB2):c.2129T>A (p.Met710Lys)	LOC126806462, SATB2 (M710K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1053939	NM_001172509.2(SATB2):c.2126A>G (p.Glu709Gly)	LOC126806462, SATB2 (E709G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 657003	NM_001172509.2(SATB2):c.2125G>A (p.Glu709Lys)	LOC126806462, SATB2 (E709K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1331319	NM_001172509.2(SATB2):c.2122G>A (p.Glu708Lys)	LOC126806462, SATB2 (E708K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 469552	NM_001172509.2(SATB2):c.2121C>T (p.Ser707=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +2 more	GBenign/Likely benign
Select item 2007588	NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)	LOC126806462, SATB2 (S707P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance
Select item 537271	NM_001172509.2(SATB2):c.2116G>A (p.Gly706Ser)	LOC126806462, SATB2 (G706S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 578465	NM_001172509.2(SATB2):c.2109C>T (p.Ser703=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +2 more	GLikely benign
Select item 2735206	NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)	LOC126806462, SATB2 (D702G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2876811	NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)	LOC126806462, SATB2 (D702N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2576537	NM_001172509.2(SATB2):c.2104del (p.Asp702fs)	LOC126806462, SATB2 (D702fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 469550	NM_001172509.2(SATB2):c.2103C>T (p.Asn701=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GLikely benign
Select item 2763011	NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)	LOC126806462, SATB2 (E697K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 753214	NM_001172509.2(SATB2):c.2088C>A (p.Thr696=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 469549	NM_001172509.2(SATB2):c.2088C>T (p.Thr696=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 646214	NM_001172509.2(SATB2):c.2074G>A (p.Glu692Lys)	LOC126806462, SATB2 (E692K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 584426	NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)	LOC126806462, SATB2 (E692*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 1153396	NM_001172509.2(SATB2):c.2073C>T (p.Asp691=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 469548	NM_001172509.2(SATB2):c.2055C>T (p.Asp685=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 646453	NM_001172509.2(SATB2):c.2052G>A (p.Val684=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 504000	NM_001172509.2(SATB2):c.2050dup (p.Val684fs)	LOC126806462, SATB2 (V684fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2194338	NM_001172509.2(SATB2):c.2049G>A (p.Ala683=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1019234	NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val)	LOC126806462, SATB2 (A683V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 537272	NM_001172509.2(SATB2):c.2047G>A (p.Ala683Thr)	LOC126806462, SATB2 (A683T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1157371	NM_001172509.2(SATB2):c.2046C>T (p.Ser682=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2663379	NM_001172509.2(SATB2):c.2045C>A (p.Ser682Tyr)	LOC126806462, SATB2 (S682Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941769	NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)	LOC126806462, SATB2 (L680V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 662502	NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp)	LOC126806462, SATB2 (E678D)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2874167	NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)	LOC126806462, SATB2 (K677N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 2917860	NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)	LOC126806462, SATB2 (L676M)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1967969	NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)	LOC126806462, SATB2 (K675T)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 840533	NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs)	LOC126806462, SATB2 (Y668fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 3007629	NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)	LOC126806462, SATB2 (G674R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 749209	NM_001172509.2(SATB2):c.2019C>T (p.His673=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 584425	NM_001172509.2(SATB2):c.2018dup (p.His673fs)	LOC126806462, SATB2 (H673fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 2706022	NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)	LOC126806462, SATB2 (H672R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1695525	NM_001172509.2(SATB2):c.2015A>T (p.His672Leu)	LOC126806462, SATB2 (H672L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789501	NM_001172509.2(SATB2):c.2010G>A (p.Val670=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1139130	NM_001172509.2(SATB2):c.2007C>T (p.His669=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 581027	NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu)	LOC126806462, SATB2 (R667L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1159767	NM_001172509.2(SATB2):c.1999C>A (p.Arg667=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 833582	NM_001172509.2(SATB2):c.1995C>A (p.Asn665Lys)	LOC126806462, SATB2 (N665K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3255052	NM_001172509.2(SATB2):c.1994A>G (p.Asn665Ser)	LOC126806462, SATB2 (N665S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 523422	NM_001172509.2(SATB2):c.1990C>T (p.Gln664Ter)	LOC126806462, SATB2 (Q664*)	Single nucleotide variant (nonsense)	Abnormal facial shape +6 more	GLikely pathogenic
Select item 3062110	NM_001172509.2(SATB2):c.1976TCA[1] (p.Ile660del)	LOC126806462, SATB2 (I660del)	Microsatellite (inframe_deletion)	SATB2 associated disorder	GPathogenic
Select item 758202	NM_001172509.2(SATB2):c.1977C>T (p.Ile659=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 1484782	NM_001172509.2(SATB2):c.1970A>G (p.His657Arg)	LOC126806462, SATB2 (H657R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GBenign
Select item 436636	NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)	LOC126806462, SATB2 (P655L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2754514	NM_001172509.2(SATB2):c.1962C>T (p.Leu654=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 2505510	NM_001172509.2(SATB2):c.1961T>G (p.Leu654Arg)	LOC126806462, SATB2 (L654R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 658775	NM_001172509.2(SATB2):c.1947G>A (p.Ser649=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 584424	NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)	LOC126806462, SATB2 (S649fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 546548	NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu)	LOC126806462, SATB2 (S649L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 373794	NM_001172509.2(SATB2):c.1942_1943del (p.Leu648fs)	LOC126806462, SATB2 (L648fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2858653	NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)	LOC126806462, SATB2 (T647N)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1112880	NM_001172509.2(SATB2):c.1938C>T (p.His646=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 702795	NM_001172509.2(SATB2):c.1935C>T (p.Ile645=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 452989	NM_001172509.2(SATB2):c.1927G>A (p.Glu643Lys)	LOC126806462, SATB2 (E643K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172597	NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter)	LOC126806462, SATB2 (Q642*)	Single nucleotide variant (nonsense)	Cerebellar ataxia	GPathogenic
Select item 1718206	NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)	LOC126806462, SATB2 (P640S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2134576	NM_001172509.2(SATB2):c.1905T>C (p.Asp635=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 3157932	NM_001172509.2(SATB2):c.1901A>G (p.His634Arg)	LOC126806462, SATB2 (H634R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1101563	NM_001172509.2(SATB2):c.1887C>T (p.Leu629=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign

<< First< Prev

Page of 9