Related gene-specific medical variations for Gene (Select 79695) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3227967	NM_024642.5(GALNT12):c.87G>T (p.Ala29=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3227959	NM_024642.5(GALNT12):c.74T>C (p.Leu25Pro)	GALNT12, LOC130002222 (L25P)	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 2754591	NM_024642.5(GALNT12):c.47G>C (p.Arg16Pro)	GALNT12, LOC130002222 (R16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2681957	NM_024642.5(GALNT12):c.86C>T (p.Ala29Val)	GALNT12, LOC130002222 (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681956	NM_024642.5(GALNT12):c.571C>G (p.Leu191Val)	GALNT12 (L191V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681955	NM_024642.5(GALNT12):c.247C>A (p.Arg83=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681951	NM_024642.5(GALNT12):c.1552A>T (p.Met518Leu)	GALNT12 (M518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681950	NM_024642.5(GALNT12):c.1036-1G>T	GALNT12	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2681949	NM_024642.5(GALNT12):c.1036-1G>A	GALNT12	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2675822	NM_024642.5(GALNT12):c.1226A>T (p.Asp409Val)	GALNT12 (D409V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675821	NM_024642.5(GALNT12):c.742G>C (p.Glu248Gln)	GALNT12 (E248Q)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675820	NM_024642.5(GALNT12):c.625G>A (p.Val209Met)	GALNT12 (V209M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675819	NM_024642.5(GALNT12):c.1346T>C (p.Leu449Pro)	GALNT12 (L449P)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675818	NM_024642.5(GALNT12):c.14C>T (p.Thr5Met)	GALNT12 (T5M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675817	NM_024642.5(GALNT12):c.419T>C (p.Val140Ala)	GALNT12 (V140A)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675815	NM_024642.5(GALNT12):c.6G>T (p.Trp2Cys)	GALNT12 (W2C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675814	NM_024642.5(GALNT12):c.946G>A (p.Ala316Thr)	GALNT12 (A316T)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675813	NM_024642.5(GALNT12):c.1316_1319del (p.Pro439fs)	GALNT12 (P439fs)	Deletion (frameshift variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675812	NM_024642.5(GALNT12):c.890G>C (p.Arg297Pro)	GALNT12 (R297P)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675811	NM_024642.5(GALNT12):c.917+5G>A	GALNT12	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675810	NM_024642.5(GALNT12):c.457C>T (p.Leu153Phe)	GALNT12 (L153F)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
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 2675807	NM_024642.5(GALNT12):c.1553T>C (p.Met518Thr)	GALNT12 (M518T)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675806	NM_024642.5(GALNT12):c.713T>G (p.Leu238Arg)	GALNT12 (L238R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675804	NM_024642.5(GALNT12):c.619G>T (p.Gly207Cys)	GALNT12 (G207C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675803	NM_024642.5(GALNT12):c.732-39T>A	GALNT12	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675801	NM_024642.5(GALNT12):c.731+1del	GALNT12	Deletion (splice donor variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 2675800	NM_024642.5(GALNT12):c.133del (p.Ala45fs)	GALNT12 (A45fs)	Deletion (frameshift variant)	Colorectal cancer, susceptibility to, 1	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 2599056	NM_024642.5(GALNT12):c.46C>T (p.Arg16Cys)	GALNT12, LOC130002222 (R16C)	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 2566271	NM_024642.5(GALNT12):c.61C>T (p.Leu21=)	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 2451783	NM_024642.5(GALNT12):c.95G>A (p.Gly32Glu)	GALNT12, LOC130002222 (G32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2447047	NM_024642.5(GALNT12):c.67G>A (p.Val23Met)	GALNT12, LOC130002222 (V23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1797401	NM_024642.5(GALNT12):c.111G>C (p.Leu37=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1783084	NM_024642.5(GALNT12):c.106G>C (p.Val36Leu)	GALNT12, LOC130002222 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1773843	NM_024642.5(GALNT12):c.103T>G (p.Ser35Ala)	GALNT12, LOC130002222 (S35A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 1770705	NM_024642.5(GALNT12):c.102C>T (p.Gly34=)	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 1768247	NM_024642.5(GALNT12):c.97C>T (p.Leu33=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1767175	NM_024642.5(GALNT12):c.94G>A (p.Gly32Arg)	GALNT12, LOC130002222 (G32R)	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 1765056	NM_024642.5(GALNT12):c.88T>G (p.Leu30Val)	GALNT12, LOC130002222 (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764355	NM_024642.5(GALNT12):c.86C>G (p.Ala29Gly)	GALNT12, LOC130002222 (A29G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 1763249	NM_024642.5(GALNT12):c.83T>C (p.Leu28Pro)	GALNT12, LOC130002222 (L28P)	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 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 1761128	NM_024642.5(GALNT12):c.78G>A (p.Ala26=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1758720	NM_024642.5(GALNT12):c.73C>T (p.Leu25=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1752728	NM_024642.5(GALNT12):c.62T>G (p.Leu21Arg)	GALNT12, LOC130002222 (L21R)	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=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1749759	NM_024642.5(GALNT12):c.57G>A (p.Glu19=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1741041	NM_024642.5(GALNT12):c.44G>C (p.Arg15Pro)	GALNT12, LOC130002222 (R15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1730871	NM_024642.5(GALNT12):c.113G>A (p.Arg38Gln)	GALNT12, LOC130002222 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1450505	NM_024642.5(GALNT12):c.107T>G (p.Val36Gly)	GALNT12, LOC130002222 (V36G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1442088	NM_024642.5(GALNT12):c.112C>T (p.Arg38Trp)	GALNT12, LOC130002222 (R38W)	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 provided +1 more	GUncertain significance
Select item 1151938	NM_024642.5(GALNT12):c.72C>T (p.Leu24=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1105648	NM_024642.5(GALNT12):c.51C>A (p.Gly17=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1022942	NM_024642.5(GALNT12):c.66G>T (p.Leu22Phe)	LOC130002222, GALNT12 (L22F)	Single nucleotide variant (missense variant)	not provided +2 more	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 844612	NM_024642.5(GALNT12):c.65T>C (p.Leu22Ser)	GALNT12, LOC130002222 (L22S)	Single nucleotide variant (missense variant)	not provided	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 825702	NM_024642.5(GALNT12):c.53G>A (p.Arg18Gln)	GALNT12, LOC130002222 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 825539	NM_024642.5(GALNT12):c.51C>T (p.Gly17=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 822140	NM_024642.5(GALNT12):c.108G>T (p.Val36=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 707330	NM_024642.5(GALNT12):c.72C>G (p.Leu24=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 651662	NM_024642.5(GALNT12):c.104C>T (p.Ser35Leu)	GALNT12, LOC130002222 (S35L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 640134	NM_024642.5(GALNT12):c.94G>T (p.Gly32Trp)	GALNT12, LOC130002222 (G32W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 485686	NM_024642.5(GALNT12):c.59_67dup (p.Ala20_Leu22dup)	GALNT12, LOC130002222	Duplication (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 254066	NM_024642.4(GALNT12):c.732-?_1035+?del	GALNT12	Deletion	not specified	GUncertain significance

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Links from Gene

Items: 95