LOC130002222[gene] - ClinVar

Search results

Items: 85

	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1731065	NM_024642.5(GALNT12):c.34_67del (p.Arg12fs)	GALNT12, LOC130002222 (R12fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1741041	NM_024642.5(GALNT12):c.44G>C (p.Arg15Pro)	GALNT12, LOC130002222 (R15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1506538	NM_024642.5(GALNT12):c.44G>T (p.Arg15Leu)	GALNT12, LOC130002222 (R15L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2599056	NM_024642.5(GALNT12):c.46C>T (p.Arg16Cys)	GALNT12, LOC130002222 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2754591	NM_024642.5(GALNT12):c.47G>C (p.Arg16Pro)	GALNT12, LOC130002222 (R16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1743931	NM_024642.5(GALNT12):c.48C>A (p.Arg16=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2447037	NM_024642.5(GALNT12):c.49G>A (p.Gly17Ser)	GALNT12, LOC130002222 (G17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1105648	NM_024642.5(GALNT12):c.51C>A (p.Gly17=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 825539	NM_024642.5(GALNT12):c.51C>T (p.Gly17=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2675808	NM_024642.5(GALNT12):c.52C>T (p.Arg18Trp)	GALNT12, LOC130002222 (R18W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2073023	NM_024642.5(GALNT12):c.52C>G (p.Arg18Gly)	GALNT12, LOC130002222 (R18G)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 2624765	NM_024642.5(GALNT12):c.53G>C (p.Arg18Pro)	GALNT12, LOC130002222 (R18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 825702	NM_024642.5(GALNT12):c.53G>A (p.Arg18Gln)	GALNT12, LOC130002222 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1005177	NM_024642.5(GALNT12):c.56A>C (p.Glu19Ala)	GALNT12, LOC130002222 (E19A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 485686	NM_024642.5(GALNT12):c.59_67dup (p.Ala20_Leu22dup)	GALNT12, LOC130002222	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1749759	NM_024642.5(GALNT12):c.57G>A (p.Glu19=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2753190	NM_024642.5(GALNT12):c.58G>T (p.Ala20Ser)	GALNT12, LOC130002222 (A20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1750953	NM_024642.5(GALNT12):c.59C>A (p.Ala20Glu)	GALNT12, LOC130002222 (A20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1751620	NM_024642.5(GALNT12):c.60G>T (p.Ala20=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1751607	NM_024642.5(GALNT12):c.60G>A (p.Ala20=)	LOC130002222, GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2566271	NM_024642.5(GALNT12):c.61C>T (p.Leu21=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1752728	NM_024642.5(GALNT12):c.62T>G (p.Leu21Arg)	GALNT12, LOC130002222 (L21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753911	NM_024642.5(GALNT12):c.64T>G (p.Leu22Val)	GALNT12, LOC130002222 (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 844612	NM_024642.5(GALNT12):c.65T>C (p.Leu22Ser)	GALNT12, LOC130002222 (L22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022942	NM_024642.5(GALNT12):c.66G>T (p.Leu22Phe)	GALNT12, LOC130002222 (L22F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2447047	NM_024642.5(GALNT12):c.67G>A (p.Val23Met)	GALNT12, LOC130002222 (V23M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +1 more	GUncertain significance
Select item 826762	NM_024642.5(GALNT12):c.69G>T (p.Val23=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 826760	NM_024642.5(GALNT12):c.69G>A (p.Val23=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1151938	NM_024642.5(GALNT12):c.72C>T (p.Leu24=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 707330	NM_024642.5(GALNT12):c.72C>G (p.Leu24=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1758720	NM_024642.5(GALNT12):c.73C>T (p.Leu25=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227959	NM_024642.5(GALNT12):c.74T>C (p.Leu25Pro)	GALNT12, LOC130002222 (L25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586465	NM_024642.5(GALNT12):c.76G>T (p.Ala26Ser)	GALNT12, LOC130002222 (A26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760678	NM_024642.5(GALNT12):c.77C>A (p.Ala26Glu)	GALNT12, LOC130002222 (A26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1761128	NM_024642.5(GALNT12):c.78G>A (p.Ala26=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1761570	NM_024642.5(GALNT12):c.79C>T (p.Leu27=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1761568	NM_024642.5(GALNT12):c.79C>G (p.Leu27Val)	GALNT12, LOC130002222 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227963	NM_024642.5(GALNT12):c.80T>C (p.Leu27Pro)	GALNT12, LOC130002222 (L27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1762406	NM_024642.5(GALNT12):c.81A>G (p.Leu27=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2566268	NM_024642.5(GALNT12):c.83T>G (p.Leu28Arg)	GALNT12, LOC130002222 (L28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763249	NM_024642.5(GALNT12):c.83T>C (p.Leu28Pro)	GALNT12, LOC130002222 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 822516	NM_024642.5(GALNT12):c.84G>A (p.Leu28=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1764005	NM_024642.5(GALNT12):c.85G>A (p.Ala29Thr)	GALNT12, LOC130002222 (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681957	NM_024642.5(GALNT12):c.86C>T (p.Ala29Val)	GALNT12, LOC130002222 (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1764355	NM_024642.5(GALNT12):c.86C>G (p.Ala29Gly)	GALNT12, LOC130002222 (A29G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1352582	NM_024642.5(GALNT12):c.86C>A (p.Ala29Glu)	GALNT12, LOC130002222 (A29E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3227967	NM_024642.5(GALNT12):c.87G>T (p.Ala29=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 822746	NM_024642.5(GALNT12):c.87G>A (p.Ala29=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1765056	NM_024642.5(GALNT12):c.88T>G (p.Leu30Val)	GALNT12, LOC130002222 (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227972	NM_024642.5(GALNT12):c.92C>T (p.Ala31Val)	GALNT12, LOC130002222 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1766824	NM_024642.5(GALNT12):c.93C>T (p.Ala31=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1766816	NM_024642.5(GALNT12):c.93C>G (p.Ala31=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767175	NM_024642.5(GALNT12):c.94G>A (p.Gly32Arg)	GALNT12, LOC130002222 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 640134	NM_024642.5(GALNT12):c.94G>T (p.Gly32Trp)	GALNT12, LOC130002222 (G32W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 2451783	NM_024642.5(GALNT12):c.95G>A (p.Gly32Glu)	GALNT12, LOC130002222 (G32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1767909	NM_024642.5(GALNT12):c.96G>T (p.Gly32=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767896	NM_024642.5(GALNT12):c.96G>A (p.Gly32=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1768247	NM_024642.5(GALNT12):c.97C>T (p.Leu33=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1768556	NM_024642.5(GALNT12):c.98T>C (p.Leu33Pro)	GALNT12, LOC130002222 (L33P)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +1 more	GUncertain significance
Select item 1770705	NM_024642.5(GALNT12):c.102C>T (p.Gly34=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1773843	NM_024642.5(GALNT12):c.103T>G (p.Ser35Ala)	GALNT12, LOC130002222 (S35A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1773828	NM_024642.5(GALNT12):c.103T>C (p.Ser35Pro)	GALNT12, LOC130002222 (S35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227895	NM_024642.5(GALNT12):c.104C>G (p.Ser35Trp)	GALNT12, LOC130002222 (S35W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 651662	NM_024642.5(GALNT12):c.104C>T (p.Ser35Leu)	GALNT12, LOC130002222 (S35L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1783084	NM_024642.5(GALNT12):c.106G>C (p.Val36Leu)	GALNT12, LOC130002222 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1450505	NM_024642.5(GALNT12):c.107T>G (p.Val36Gly)	GALNT12, LOC130002222 (V36G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1788988	NM_024642.5(GALNT12):c.108G>C (p.Val36=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 822140	NM_024642.5(GALNT12):c.108G>T (p.Val36=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1552691	NM_024642.5(GALNT12):c.109C>T (p.Leu37=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1797401	NM_024642.5(GALNT12):c.111G>C (p.Leu37=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1442088	NM_024642.5(GALNT12):c.112C>T (p.Arg38Trp)	GALNT12, LOC130002222 (R38W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 1730871	NM_024642.5(GALNT12):c.113G>A (p.Arg38Gln)	GALNT12, LOC130002222 (R38Q)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +1 more	GUncertain significance

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Items: 85