ClinVar for Gene (Select 79695) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280596	NM_024642.5(GALNT12):c.1066C>G (p.His356Asp)	GALNT12 (H356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280595	NM_024642.5(GALNT12):c.764C>G (p.Pro255Arg)	GALNT12 (P255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280594	NM_024642.5(GALNT12):c.200G>A (p.Arg67Gln)	GALNT12 (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280593	NM_024642.5(GALNT12):c.554A>T (p.Glu185Val)	GALNT12 (E185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280592	NM_024642.5(GALNT12):c.267G>A (p.Glu89=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280591	NM_024642.5(GALNT12):c.224T>C (p.Leu75Pro)	GALNT12 (L75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280589	NM_024642.5(GALNT12):c.1667G>C (p.Ser556Thr)	GALNT12 (S556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280588	NM_024642.5(GALNT12):c.1213G>A (p.Glu405Lys)	GALNT12 (E405K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280587	NM_024642.5(GALNT12):c.222G>T (p.Ala74=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280586	NM_024642.5(GALNT12):c.1593C>T (p.Phe531=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280585	NM_024642.5(GALNT12):c.215C>T (p.Ala72Val)	GALNT12 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280584	NM_024642.5(GALNT12):c.1584T>G (p.Asn528Lys)	GALNT12 (N528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280583	NM_024642.5(GALNT12):c.1409T>C (p.Val470Ala)	GALNT12 (V470A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280582	NM_024642.5(GALNT12):c.1613C>G (p.Ser538Cys)	GALNT12 (S538C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280581	NM_024642.5(GALNT12):c.931G>A (p.Ala311Thr)	GALNT12 (A311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280579	NM_024642.5(GALNT12):c.235G>C (p.Gly79Arg)	GALNT12 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280578	NM_024642.5(GALNT12):c.1671C>T (p.Asp557=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280577	NM_024642.5(GALNT12):c.807G>A (p.Gly269=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280576	NM_024642.5(GALNT12):c.345C>T (p.Arg115=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280575	NM_024642.5(GALNT12):c.1532C>A (p.Ala511Glu)	GALNT12 (A511E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280574	NM_024642.5(GALNT12):c.1137C>T (p.Asn379=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280573	NM_024642.5(GALNT12):c.872C>T (p.Pro291Leu)	GALNT12 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280572	NM_024642.5(GALNT12):c.169C>G (p.Arg57Gly)	GALNT12 (R57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280571	NM_024642.5(GALNT12):c.490C>G (p.Pro164Ala)	GALNT12 (P164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280570	NM_024642.5(GALNT12):c.118C>T (p.Gln40Ter)	GALNT12 (Q40*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3280568	NM_024642.5(GALNT12):c.640C>T (p.Leu214=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280567	NM_024642.5(GALNT12):c.1726T>G (p.Phe576Val)	GALNT12 (F576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280566	NM_024642.5(GALNT12):c.1272C>A (p.Asp424Glu)	GALNT12 (D424E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280565	NM_024642.5(GALNT12):c.796G>C (p.Glu266Gln)	GALNT12 (E266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280564	NM_024642.5(GALNT12):c.168G>C (p.Pro56=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280563	NM_024642.5(GALNT12):c.984T>C (p.Tyr328=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280562	NM_024642.5(GALNT12):c.125G>C (p.Gly42Ala)	GALNT12 (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280561	NM_024642.5(GALNT12):c.1451A>G (p.Gln484Arg)	GALNT12 (Q484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280560	NM_024642.5(GALNT12):c.257T>A (p.Leu86Gln)	GALNT12 (L86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280559	NM_024642.5(GALNT12):c.386A>T (p.Lys129Ile)	GALNT12 (K129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280557	NM_024642.5(GALNT12):c.714G>A (p.Leu238=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3280556	NM_024642.5(GALNT12):c.1230G>A (p.Val410=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280555	NM_024642.5(GALNT12):c.571C>A (p.Leu191Ile)	GALNT12 (L191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280552	NM_024642.5(GALNT12):c.122G>A (p.Arg41His)	GALNT12 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280551	NM_024642.5(GALNT12):c.170G>A (p.Arg57His)	GALNT12 (R57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280550	NM_024642.5(GALNT12):c.759G>A (p.Val253=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280548	NM_024642.5(GALNT12):c.781G>T (p.Asp261Tyr)	GALNT12 (D261Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280547	NM_024642.5(GALNT12):c.765G>T (p.Pro255=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280545	NM_024642.5(GALNT12):c.469T>C (p.Tyr157His)	GALNT12 (Y157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280544	NM_024642.5(GALNT12):c.1409T>A (p.Val470Glu)	GALNT12 (V470E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280542	NM_024642.5(GALNT12):c.592C>T (p.Arg198Cys)	GALNT12 (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245369	NC_000009.11:g.(?_101570157)_(101573521_?)del	GALNT12	Deletion	not provided	GUncertain significance
Select item 3245368	NC_000009.11:g.(?_101594034)_(101594259_?)del	GALNT12	Deletion	not provided	GUncertain significance
Select item 3245128	NC_000009.11:g.(?_101470679)_(101611374_?)del	ANKS6, GABBR2 +1 more	Deletion	Epileptic encephalopathy	GLikely benign
Select item 3241672	NM_024642.5(GALNT12):c.1162A>T (p.Met388Leu)	GALNT12 (M388L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241671	NM_024642.5(GALNT12):c.1060G>A (p.Glu354Lys)	GALNT12 (E354K)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241669	NM_024642.5(GALNT12):c.1517G>A (p.Cys506Tyr)	GALNT12 (C506Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3241668	NM_024642.5(GALNT12):c.1732del (p.Glu578fs)	GALNT12 (E578fs)	Deletion (frameshift variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241666	NM_024642.5(GALNT12):c.1212+1G>A	GALNT12	Single nucleotide variant (splice donor variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241665	NM_024642.5(GALNT12):c.656C>G (p.Ala219Gly)	GALNT12 (A219G)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241664	NM_024642.5(GALNT12):c.230C>T (p.Ala77Val)	GALNT12 (A77V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241663	NM_024642.5(GALNT12):c.1721G>T (p.Trp574Leu)	GALNT12 (W574L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3241662	NM_024642.5(GALNT12):c.368C>G (p.Pro123Arg)	GALNT12 (P123R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1	GUncertain significance
Select item 3227975	NM_024642.5(GALNT12):c.999A>C (p.Glu333Asp)	GALNT12 (E333D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227974	NM_024642.5(GALNT12):c.945T>G (p.Phe315Leu)	GALNT12 (F315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227973	NM_024642.5(GALNT12):c.942G>A (p.Leu314=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3227971	NM_024642.5(GALNT12):c.918-3T>A	GALNT12	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3227970	NM_024642.5(GALNT12):c.911T>A (p.Val304Asp)	GALNT12 (V304D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227969	NM_024642.5(GALNT12):c.910G>C (p.Val304Leu)	GALNT12 (V304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227968	NM_024642.5(GALNT12):c.898T>C (p.Ser300Pro)	GALNT12 (S300P)	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 3227966	NM_024642.5(GALNT12):c.824A>T (p.Gln275Leu)	GALNT12 (Q275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227965	NM_024642.5(GALNT12):c.820C>G (p.Pro274Ala)	GALNT12 (P274A)	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 3227962	NM_024642.5(GALNT12):c.807G>T (p.Gly269=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227961	NM_024642.5(GALNT12):c.788A>G (p.Asn263Ser)	GALNT12 (N263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227960	NM_024642.5(GALNT12):c.782A>G (p.Asp261Gly)	GALNT12 (D261G)	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 3227958	NM_024642.5(GALNT12):c.684C>T (p.Asp228=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227957	NM_024642.5(GALNT12):c.664G>A (p.Asp222Asn)	GALNT12 (D222N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3227956	NM_024642.5(GALNT12):c.660G>A (p.Arg220=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227955	NM_024642.5(GALNT12):c.557G>T (p.Arg186Leu)	GALNT12 (R186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227954	NM_024642.5(GALNT12):c.543G>T (p.Glu181Asp)	GALNT12 (E181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227953	NM_024642.5(GALNT12):c.524A>G (p.Asp175Gly)	GALNT12 (D175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227952	NM_024642.5(GALNT12):c.514A>T (p.Ile172Phe)	GALNT12 (I172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227951	NM_024642.5(GALNT12):c.511G>A (p.Val171Met)	GALNT12 (V171M)	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 3227949	NM_024642.5(GALNT12):c.344G>T (p.Arg115Leu)	GALNT12 (R115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227948	NM_024642.5(GALNT12):c.340C>T (p.His114Tyr)	GALNT12 (H114Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227947	NM_024642.5(GALNT12):c.331A>C (p.Ile111Leu)	GALNT12 (I111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227946	NM_024642.5(GALNT12):c.325G>A (p.Asp109Asn)	GALNT12 (D109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227945	NM_024642.5(GALNT12):c.319C>T (p.Leu107Phe)	GALNT12 (L107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227944	NM_024642.5(GALNT12):c.317A>C (p.Tyr106Ser)	GALNT12 (Y106S)	Single nucleotide variant (missense 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 3227942	NM_024642.5(GALNT12):c.29G>A (p.Cys10Tyr)	GALNT12 (C10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227941	NM_024642.5(GALNT12):c.291C>G (p.Ser97Arg)	GALNT12 (S97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227940	NM_024642.5(GALNT12):c.216G>T (p.Ala72=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227939	NM_024642.5(GALNT12):c.212C>G (p.Pro71Arg)	GALNT12 (P71R)	Single nucleotide variant (missense variant)	not specified	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 3227937	NM_024642.5(GALNT12):c.206C>A (p.Pro69Gln)	GALNT12 (P69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227935	NM_024642.5(GALNT12):c.1694A>G (p.Asp565Gly)	GALNT12 (D565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227934	NM_024642.5(GALNT12):c.166C>T (p.Pro56Ser)	GALNT12 (P56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227933	NM_024642.5(GALNT12):c.1650T>C (p.Ala550=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3227932	NM_024642.5(GALNT12):c.1612T>A (p.Ser538Thr)	GALNT12 (S538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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