17995[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153582	GRCh38/hg38 9q21.13(chr9:74282586-75968293)x3	C9orf40, CARNMT1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 367268	NM_017662.5(TRPM6):c.*2017G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367269	NM_017662.5(TRPM6):c.*1997C>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367270	NM_017662.5(TRPM6):c.*1914A>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914828	NM_017662.5(TRPM6):c.*1887G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367271	NM_017662.5(TRPM6):c.*1868C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912869	NM_017662.5(TRPM6):c.*1784A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 912870	NM_017662.5(TRPM6):c.*1733A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912871	NM_017662.5(TRPM6):c.*1625A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367272	NM_017662.5(TRPM6):c.*1489G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367273	NM_017662.5(TRPM6):c.*1380T>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912872	NM_017662.5(TRPM6):c.*1303G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912873	NM_017662.5(TRPM6):c.*1245A>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367274	NM_017662.5(TRPM6):c.*1222C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 913247	NM_017662.5(TRPM6):c.*1160C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 913248	NM_017662.5(TRPM6):c.*1114G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367275	NM_017662.5(TRPM6):c.*1084C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GBenign
Select item 913249	NM_017662.5(TRPM6):c.*1072C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913250	NM_017662.5(TRPM6):c.*919G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 367276	NM_017662.5(TRPM6):c.*913T>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GBenign
Select item 367277	NM_017662.5(TRPM6):c.*886C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367278	NM_017662.5(TRPM6):c.*843G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914364	NM_017662.5(TRPM6):c.*806T>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367279	NM_017662.5(TRPM6):c.*788AT[8]	TRPM6	Microsatellite (3 prime UTR variant)	Intestinal hypomagnesemia 1	GBenign
Select item 367280	NM_017662.5(TRPM6):c.*802A>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914365	NM_017662.5(TRPM6):c.*788A>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367281	NM_017662.5(TRPM6):c.*787T>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914366	NM_017662.5(TRPM6):c.*768A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914367	NM_017662.5(TRPM6):c.*762A>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367282	NM_017662.5(TRPM6):c.*742AT[4]	TRPM6	Microsatellite (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914368	NM_017662.5(TRPM6):c.*746A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367283	NM_017662.5(TRPM6):c.*740G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914863	NM_017662.5(TRPM6):c.*739G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367284	NM_017662.5(TRPM6):c.*737A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367285	NM_017662.5(TRPM6):c.*710AT[3]	TRPM6	Microsatellite (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 914864	NM_017662.5(TRPM6):c.*670A>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 367286	NM_017662.5(TRPM6):c.*551A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367287	NM_017662.5(TRPM6):c.*527G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367288	NM_017662.5(TRPM6):c.*516A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367289	NM_017662.5(TRPM6):c.*513A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 914865	NM_017662.5(TRPM6):c.*481A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367290	NM_017662.5(TRPM6):c.*302T>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912916	NM_017662.5(TRPM6):c.*238G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367291	NM_017662.5(TRPM6):c.*238G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 912917	NM_017662.5(TRPM6):c.*235C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GLikely benign
Select item 912918	NM_017662.5(TRPM6):c.*234G>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912919	NM_017662.5(TRPM6):c.*189G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912920	NM_017662.5(TRPM6):c.*180C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 912921	NM_017662.5(TRPM6):c.*162A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367292	NM_017662.5(TRPM6):c.*156A>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 367293	NM_017662.5(TRPM6):c.*108C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913288	NM_017662.5(TRPM6):c.*96C>G	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1 +1 more	GLikely benign
Select item 367294	NM_017662.5(TRPM6):c.*82G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913289	NM_017662.5(TRPM6):c.*61T>C	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913290	NM_017662.5(TRPM6):c.*48C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 913291	NM_017662.5(TRPM6):c.*41C>T	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 2232986	NM_017662.5(TRPM6):c.6064C>G (p.Leu2022Val)	TRPM6 (L2022V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1946315	NM_017662.5(TRPM6):c.6061C>T (p.Gln2021Ter)	TRPM6 (Q2016* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2026218	NM_017662.5(TRPM6):c.6055G>A (p.Asp2019Asn)	TRPM6 (D2014N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367295	NM_017662.5(TRPM6):c.6033G>A (p.Thr2011=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 2561941	NM_017662.5(TRPM6):c.6032C>T (p.Thr2011Met)	TRPM6 (T2006M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3183404	NM_017662.5(TRPM6):c.6008C>T (p.Ala2003Val)	TRPM6 (A2003V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183403	NM_017662.5(TRPM6):c.5999T>C (p.Ile2000Thr)	TRPM6 (I2000T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1998867	NM_017662.5(TRPM6):c.5999T>G (p.Ile2000Arg)	TRPM6 (I2000R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957255	NM_017662.5(TRPM6):c.5990A>C (p.Glu1997Ala)	TRPM6 (E1992A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128418	NM_017662.5(TRPM6):c.5980T>G (p.Phe1994Val)	TRPM6 (F1994V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818528	NM_017662.5(TRPM6):c.5971A>G (p.Asn1991Asp)	TRPM6 (N1986D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505342	NM_017662.5(TRPM6):c.5971A>C (p.Asn1991His)	TRPM6 (N1986H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557898	NM_017662.5(TRPM6):c.5969T>A (p.Ile1990Lys)	TRPM6 (I1985K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142248	NM_017662.5(TRPM6):c.5967G>A (p.Arg1989=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872020	NM_017662.5(TRPM6):c.5936-6T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 367296	NM_017662.5(TRPM6):c.5936-8C>T	TRPM6	Single nucleotide variant (intron variant)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 2983212	NM_017662.5(TRPM6):c.5936-15T>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245297	NM_017662.5(TRPM6):c.5936-35T>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295775	NM_017662.5(TRPM6):c.5935+340G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221845	NM_017662.5(TRPM6):c.5935+292T>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249290	NM_017662.5(TRPM6):c.5935+261C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1901488	NM_017662.5(TRPM6):c.5934G>A (p.Pro1978=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1524549	NM_017662.5(TRPM6):c.5933C>T (p.Pro1978Leu)	TRPM6 (P1973L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706218	NM_017662.5(TRPM6):c.5925C>T (p.Leu1975=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183402	NM_017662.5(TRPM6):c.5917C>T (p.Arg1973Trp)	TRPM6 (R1968W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2721248	NM_017662.5(TRPM6):c.5860T>C (p.Leu1954=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479691	NM_017662.5(TRPM6):c.5860T>A (p.Leu1954Met)	TRPM6 (L1949M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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