GALNT12[gene] - 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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 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 1316424	NC_000009.12:g.98807646G>T	GALNT12	Single nucleotide variant	not provided	GLikely benign
Select item 1316419	NC_000009.12:g.98807655G>A	GALNT12	Single nucleotide variant	not provided	GLikely benign
Select item 3060701	NM_024642.5(GALNT12):c.-10T>C	GALNT12	Single nucleotide variant (5 prime UTR variant)	GALNT12-related disorder	GLikely benign
Select item 3029558	NM_024642.5(GALNT12):c.-9G>A	GALNT12	Single nucleotide variant (5 prime UTR variant)	GALNT12-related disorder	GLikely benign
Select item 1784215	NM_024642.5(GALNT12):c.2_13dup (p.Arg4_Thr5insMetTrpGlyArg)	GALNT12	Duplication (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 844390	NM_024642.5(GALNT12):c.2_13del (p.Met1_Arg4del)	GALNT12	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1751004	NM_024642.5(GALNT12):c.-5G>A	GALNT12	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 824489	NM_024642.5(GALNT12):c.-4_-3delinsA	GALNT12	Indel (5 prime UTR variant)	not specified	GUncertain significance
Select item 1736895	NM_024642.5(GALNT12):c.-3C>A	GALNT12	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3227943	NM_024642.5(GALNT12):c.-2G>A	GALNT12	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2586475	NM_024642.5(GALNT12):c.-1C>T	GALNT12	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1784179	NM_024642.5(GALNT12):c.1A>T (p.Met1Leu)	GALNT12 (M1L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1403848	NM_024642.5(GALNT12):c.1A>G (p.Met1Val)	GALNT12 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 820494	NM_024642.5(GALNT12):c.1A>C (p.Met1Leu)	GALNT12 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1319621	NM_024642.5(GALNT12):c.2T>C (p.Met1Thr)	GALNT12 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 639336	NM_024642.5(GALNT12):c.3G>T (p.Met1Ile)	GALNT12 (M1I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1270	NM_024642.5(GALNT12):c.3G>A (p.Met1Ile)	GALNT12 (M1I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2675805	NM_024642.5(GALNT12):c.9dup (p.Arg4fs)	GALNT12 (R4fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1736920	NM_024642.5(GALNT12):c.4_5insTG (p.Trp2fs)	GALNT12 (W2fs)	Insertion (frameshift variant)	not specified	GUncertain significance
Select item 1061178	NM_024642.5(GALNT12):c.5G>A (p.Trp2Ter)	GALNT12 (W2*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 826119	NM_024642.5(GALNT12):c.5G>C (p.Trp2Ser)	GALNT12 (W2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 485653	NM_024642.5(GALNT12):c.5G>T (p.Trp2Leu)	GALNT12 (W2L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 2561004	NM_024642.5(GALNT12):c.7G>C (p.Gly3Arg)	GALNT12 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1765424	NM_024642.5(GALNT12):c.8G>A (p.Gly3Glu)	GALNT12 (G3E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1768942	NM_024642.5(GALNT12):c.9G>T (p.Gly3=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561008	NM_024642.5(GALNT12):c.10C>T (p.Arg4Cys)	GALNT12 (R4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 663569	NM_024642.5(GALNT12):c.11G>A (p.Arg4His)	GALNT12 (R4H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2451760	NM_024642.5(GALNT12):c.12C>T (p.Arg4=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771752	NM_024642.5(GALNT12):c.13A>G (p.Thr5Ala)	GALNT12 (T5A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 857605	NM_024642.5(GALNT12):c.23_51dup (p.Arg18fs)	GALNT12 (R18fs)	Duplication (frameshift variant)	not provided +1 more	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 649655	NM_024642.5(GALNT12):c.15G>A (p.Thr5=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1630077	NM_024642.5(GALNT12):c.18G>T (p.Ala6=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1784154	NM_024642.5(GALNT12):c.19C>T (p.Arg7Trp)	GALNT12 (R7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1784151	NM_024642.5(GALNT12):c.19C>A (p.Arg7=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1054517	NM_024642.5(GALNT12):c.19C>G (p.Arg7Gly)	GALNT12 (R7G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3227938	NM_024642.5(GALNT12):c.20G>A (p.Arg7Gln)	GALNT12 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1785887	NM_024642.5(GALNT12):c.20G>C (p.Arg7Pro)	GALNT12 (R7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 241511	NM_024642.5(GALNT12):c.20G>T (p.Arg7Leu)	GALNT12 (R7L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1787612	NM_024642.5(GALNT12):c.21G>C (p.Arg7=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 821057	NM_024642.5(GALNT12):c.22C>T (p.Arg8Trp)	GALNT12 (R8W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 1790719	NM_024642.5(GALNT12):c.23G>T (p.Arg8Leu)	GALNT12 (R8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1790717	NM_024642.5(GALNT12):c.23G>C (p.Arg8Pro)	GALNT12 (R8P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1793648	NM_024642.5(GALNT12):c.25C>T (p.Arg9Cys)	GALNT12 (R9C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 410594	NM_024642.5(GALNT12):c.25C>G (p.Arg9Gly)	GALNT12 (R9G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2566269	NM_024642.5(GALNT12):c.26G>T (p.Arg9Leu)	GALNT12 (R9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760286	NM_024642.5(GALNT12):c.27C>T (p.Arg9=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3227942	NM_024642.5(GALNT12):c.29G>A (p.Cys10Tyr)	GALNT12 (C10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 823493	NM_024642.5(GALNT12):c.32C>T (p.Pro11Leu)	GALNT12 (P11L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1731065	NM_024642.5(GALNT12):c.34_67del (p.Arg12fs)	GALNT12, LOC130002222 (R12fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1087503	NM_024642.5(GALNT12):c.33G>C (p.Pro11=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2566245	NM_024642.5(GALNT12):c.35G>A (p.Arg12Gln)	GALNT12 (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1733080	NM_024642.5(GALNT12):c.35G>T (p.Arg12Leu)	GALNT12 (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1734080	NM_024642.5(GALNT12):c.36G>A (p.Arg12=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1735051	NM_024642.5(GALNT12):c.37G>A (p.Glu13Lys)	GALNT12 (E13K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2451776	NM_024642.5(GALNT12):c.40C>T (p.Leu14=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 824593	NM_024642.5(GALNT12):c.40C>G (p.Leu14Val)	GALNT12 (L14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227950	NM_024642.5(GALNT12):c.41T>A (p.Leu14Gln)	GALNT12 (L14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 824864	NM_024642.5(GALNT12):c.43C>A (p.Arg15=)	GALNT12	Single nucleotide variant (synonymous variant)	GALNT12-related disorder +1 more	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 1506538	NM_024642.5(GALNT12):c.44G>T (p.Arg15Leu)	GALNT12, LOC130002222 (R15L)	Single nucleotide variant (missense variant)	not provided +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=)	LOC130002222, GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 825539	NM_024642.5(GALNT12):c.51C>T (p.Gly17=)	LOC130002222, GALNT12	Single nucleotide variant (synonymous variant)	not provided +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)	LOC130002222, GALNT12	Duplication (inframe_insertion)	not specified +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=)	GALNT12, LOC130002222	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)	not specified	GUncertain significance
Select item 826762	NM_024642.5(GALNT12):c.69G>T (p.Val23=)	GALNT12, LOC130002222	Single nucleotide variant (synonymous variant)	not provided +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

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