4620[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 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 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 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 3058775	NM_198252.3(GSN):c.-10+908C>T	GSN, GSN-AS1 +1 more (R7C)	Single nucleotide variant (missense variant +3 more)	GSN-related disorder	GLikely benign
Select item 1244182	NM_198252.3(GSN):c.-10+1155C>T	GSN, GSN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1257589	NM_198252.3(GSN):c.-10+4288C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279715	NM_198252.3(GSN):c.-10+4458G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3348707	NM_198252.3(GSN):c.-10+4584G>A	GSN, LOC126860753 (M1I)	Single nucleotide variant (missense variant +3 more)	GSN-related disorder	GUncertain significance
Select item 1267128	NM_198252.3(GSN):c.-10+4621T>C	GSN, LOC126860753 (W14R)	Single nucleotide variant (intron variant +2 more)	not provided	GBenign
Select item 3040327	NM_198252.3(GSN):c.-10+4624G>T	GSN, LOC126860753	Single nucleotide variant (intron variant +1 more)	GSN-related disorder	GLikely benign
Select item 1287428	NM_198252.3(GSN):c.-10+4781A>G	GSN, LOC126860753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659476	NM_198252.3(GSN):c.-10+5174_-10+5203del	GSN, LOC126860753	Deletion (intron variant +2 more)	not provided	GUncertain significance
Select item 2659477	NM_198252.3(GSN):c.-10+5185A>T	GSN, LOC126860753 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1283963	NM_198252.3(GSN):c.-9-2406C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232437	NM_198252.3(GSN):c.-9-2339C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255271	NM_198252.3(GSN):c.-9-2278G>A	GSN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 364794	NM_198252.3(GSN):c.-9-2137C>T	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis	GUncertain significance
Select item 2503175	NM_198252.3(GSN):c.-9-2101_-9-2095del	GSN (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2982669	NM_198252.3(GSN):c.-9-2101A>G	GSN (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1903266	NM_198252.3(GSN):c.-9-2094C>T	GSN (P3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591908	NM_198252.3(GSN):c.-9-2091_-9-2064del	GSN (H4fs)	Deletion (frameshift variant +1 more)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 1746988	NM_198252.3(GSN):c.-9-2091A>G	GSN (H4R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1746980	NM_198252.3(GSN):c.-9-2091A>C	GSN (H4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1769341	NM_198252.3(GSN):c.-9-2090C>G	GSN (H4Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2020843	NM_198252.3(GSN):c.-9-2088G>A	GSN (R5H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1773985	NM_198252.3(GSN):c.-9-2088G>T	GSN (R5L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2187411	NM_198252.3(GSN):c.-9-2084del	GSN (A7fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1671380	NM_198252.3(GSN):c.-9-2084C>T	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1538820	NM_198252.3(GSN):c.-9-2084C>G	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2976345	NM_198252.3(GSN):c.-9-2082C>T	GSN (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356454	NM_198252.3(GSN):c.-9-2079_-9-2035del	GSN	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1338009	NM_198252.3(GSN):c.-9-2077G>A	GSN (A9T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1963903	NM_198252.3(GSN):c.-9-2072G>T	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1446163	NM_198252.3(GSN):c.-9-2057_-9-2037dup	GSN	Duplication (inframe_insertion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1732063	NM_198252.3(GSN):c.-9-2068T>G	GSN (C12G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1413614	NM_198252.3(GSN):c.-9-2057_-9-2037del	GSN	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632532	NM_198252.3(GSN):c.-9-2066_-9-2060del	GSN (A13fs)	Deletion (frameshift variant +1 more)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1505340	NM_198252.3(GSN):c.-9-2058_-9-2047dup	GSN	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 2960851	NM_198252.3(GSN):c.-9-2061_-9-2032dup	GSN	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1898389	NM_198252.3(GSN):c.-9-2064C>T	GSN (A13V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785065	NM_198252.3(GSN):c.-9-2061T>C	GSN (L14P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1518533	NM_198252.3(GSN):c.-9-2059T>C	GSN (S15P)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1977463	NM_198252.3(GSN):c.-9-2053del	GSN (A17fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2720363	NM_198252.3(GSN):c.-9-2052C>T	GSN (A17V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385473	NM_198252.3(GSN):c.-9-2046G>A	GSN (C19Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925206	NM_198252.3(GSN):c.-9-2044G>A	GSN (A20T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010018	NM_198252.3(GSN):c.-9-2043C>T	GSN (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349199	NM_198252.3(GSN):c.-9-2043C>G	GSN (A20G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 738620	NM_198252.3(GSN):c.-9-2039G>C	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2095112	NM_198252.3(GSN):c.-9-2035C>T	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845362	NM_198252.3(GSN):c.-9-2030C>A	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190202	NM_198252.3(GSN):c.-9-2030C>T	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 915112	NM_198252.3(GSN):c.-9-2026C>T	GSN (R26C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2994884	NM_198252.3(GSN):c.-9-2025G>T	GSN (R26L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127909	NM_198252.3(GSN):c.-9-2023G>T	GSN (A27S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 364795	NM_198252.3(GSN):c.-9-2021G>A	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 1664214	NM_198252.3(GSN):c.-9-2012G>A	GSN	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1352540	NM_198252.3(GSN):c.-9-2010C>T	GSN (S31L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1617948	NM_198252.3(GSN):c.-9-2009G>A	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2159477	NM_198252.3(GSN):c.-9-2002dup	GSN (A34fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2817634	NM_198252.3(GSN):c.-9-2006G>A	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1358098	NM_198252.3(GSN):c.-9-1999_-9-1985del	GSN	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1995171	NM_198252.3(GSN):c.-9-2001C>T	GSN (A34V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1599768	NM_198252.3(GSN):c.-9-2000G>T	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2446395	NM_198252.3(GSN):c.-9-1987dup	GSN (A39fs)	Duplication (frameshift variant +1 more)	Finnish type amyloidosis	GLikely pathogenic
Select item 1617369	NM_198252.3(GSN):c.-9-1991G>A	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1479022	NM_198252.3(GSN):c.-9-1990G>T	GSN (G38W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355918	NM_198252.3(GSN):c.-9-1987G>A	GSN (A39T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1739144	NM_198252.3(GSN):c.-9-1986C>T	GSN (A39V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2807987	NM_198252.3(GSN):c.-9-1985G>A	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421700	NM_198252.3(GSN):c.-9-1983C>T	GSN (P40L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2044805	NM_198252.3(GSN):c.-9-1968_-9-1954del	GSN	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 915113	NM_198252.3(GSN):c.-9-1967C>T	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +2 more	GBenign/Likely benign
Select item 2124213	NM_198252.3(GSN):c.-9-1964G>A	GSN	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1771980	NM_198252.3(GSN):c.-9-1962C>A	GSN (A47E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1968508	NM_198252.3(GSN):c.-9-1959G>T	GSN (R48L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1605774	NM_198252.3(GSN):c.-9-1951G>T	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1946578	NM_198252.3(GSN):c.-9-1948C>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134090	NM_198252.3(GSN):c.-9-1947G>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929853	NM_198252.3(GSN):c.-9-1947G>A	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543469	NM_198252.3(GSN):c.-9-1944G>A	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654262	NM_198252.3(GSN):c.-9-1943G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1605769	NM_198252.3(GSN):c.-9-1942G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1174894	NM_198252.3(GSN):c.-9-1836G>T	GSN	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1179841	NM_198252.3(GSN):c.-9-185C>G	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1638341	NM_198252.3(GSN):c.-9-14C>G	GSN (P17R)	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1615828	NM_198252.3(GSN):c.-7C>T	GSN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1567508	NM_198252.3(GSN):c.-7C>G	GSN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 915114	NM_198252.3(GSN):c.-4C>G	GSN (N16K +5 more)	Single nucleotide variant (missense variant +2 more)	Finnish type amyloidosis	GUncertain significance
Select item 1472409	NM_198252.3(GSN):c.-2G>A	GSN (S17N +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1775894	NM_198252.3(GSN):c.5T>C (p.Val2Ala)	GSN (V10A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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