"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2681957	NM_024642.5(GALNT12):c.86C>T (p.Ala29Val)	GALNT12, LOC130002222 (A29V)	Single nucleotide variant (missense variant)	not provided	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 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 241508	NM_024642.5(GALNT12):c.136_138delinsAGA (p.Gly46Arg)	GALNT12 (G46R)	Indel (missense variant)	not provided +1 more	GLikely benign
Select item 416213	NM_024642.5(GALNT12):c.138G>A (p.Gly46=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 416215	NM_024642.5(GALNT12):c.144C>G (p.Ala48=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 819709	NM_024642.5(GALNT12):c.163_171dup (p.Thr55_Arg57dup)	GALNT12	Duplication (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 819532	NM_024642.5(GALNT12):c.155C>T (p.Pro52Leu)	GALNT12 (P52L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 485671	NM_024642.5(GALNT12):c.164C>T (p.Thr55Ile)	GALNT12 (T55I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 820266	NM_024642.5(GALNT12):c.189G>T (p.Pro63=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 485682	NM_024642.5(GALNT12):c.193A>T (p.Met65Leu)	GALNT12 (M65L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2681955	NM_024642.5(GALNT12):c.247C>A (p.Arg83=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444317	NM_024642.5(GALNT12):c.266A>G (p.Glu89Gly)	GALNT12 (E89G)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 703054	NM_024642.5(GALNT12):c.277C>T (p.Leu93=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 410580	NM_024642.5(GALNT12):c.303C>G (p.His101Gln)	GALNT12 (H101Q)	Single nucleotide variant (missense variant)	GALNT12-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1727939	NM_024642.5(GALNT12):c.312C>T (p.Asn104=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 485648	NM_024642.5(GALNT12):c.329G>A (p.Arg110His)	GALNT12 (R110H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 241512	NM_024642.5(GALNT12):c.359G>C (p.Arg120Pro)	GALNT12 (R120P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 416211	NM_024642.5(GALNT12):c.372-7T>A	GALNT12	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 241513	NM_024642.5(GALNT12):c.375C>T (p.Cys125=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 940167	NM_024642.5(GALNT12):c.398A>G (p.Asp133Gly)	GALNT12 (D133G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1024499	NM_024642.5(GALNT12):c.427G>A (p.Ala143Thr)	GALNT12 (A143T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 697418	NM_024642.5(GALNT12):c.501G>T (p.Leu167=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 825399	NM_024642.5(GALNT12):c.504A>G (p.Leu168=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 701108	NM_024642.5(GALNT12):c.541+9C>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1156841	NM_024642.5(GALNT12):c.546C>T (p.His182=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 951164	NM_024642.5(GALNT12):c.556C>T (p.Arg186Cys)	GALNT12 (R186C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 220845	NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser)	GALNT12 (N189S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2681956	NM_024642.5(GALNT12):c.571C>G (p.Leu191Val)	GALNT12 (L191V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416922	NM_024642.5(GALNT12):c.576G>A (p.Ser192=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 416209	NM_024642.5(GALNT12):c.579A>G (p.Gly193=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 410578	NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser)	GALNT12 (N203S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 698344	NM_024642.5(GALNT12):c.648G>A (p.Ala216=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 699819	NM_024642.5(GALNT12):c.654G>A (p.Ala218=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1754232	NM_024642.5(GALNT12):c.656C>T (p.Ala219Val)	GALNT12 (A219V)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 1755034	NM_024642.5(GALNT12):c.670C>T (p.Leu224=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 410575	NM_024642.5(GALNT12):c.679C>G (p.Leu227Val)	GALNT12 (L227V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1757216	NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)	GALNT12 (W237*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 485652	NM_024642.5(GALNT12):c.715G>C (p.Glu239Gln)	GALNT12 (E239Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 241516	NM_024642.5(GALNT12):c.750G>A (p.Ser250=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 241517	NM_024642.5(GALNT12):c.781G>A (p.Asp261Asn)	GALNT12 (D261N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 485657	NM_024642.5(GALNT12):c.814G>A (p.Gly272Arg)	GALNT12 (G272R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 827510	NM_024642.5(GALNT12):c.820C>T (p.Pro274Ser)	GALNT12 (P274S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 485667	NM_024642.5(GALNT12):c.831C>T (p.Gly277=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 822357	NM_024642.5(GALNT12):c.837C>T (p.Phe279=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 416222	NM_024642.5(GALNT12):c.840C>T (p.Asp280=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 822578	NM_024642.5(GALNT12):c.857C>T (p.Thr286Met)	GALNT12 (T286M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 485651	NM_024642.5(GALNT12):c.858G>T (p.Thr286=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 485644	NM_024642.5(GALNT12):c.868G>T (p.Val290Phe)	GALNT12 (V290F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 822762	NM_024642.5(GALNT12):c.883A>G (p.Arg295Gly)	GALNT12 (R295G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 241518	NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp)	GALNT12 (R297W)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 416216	NM_024642.5(GALNT12):c.897A>G (p.Gln299=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 485663	NM_024642.5(GALNT12):c.903C>T (p.Pro301=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 416224	NM_024642.5(GALNT12):c.903C>G (p.Pro301=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 485669	NM_024642.5(GALNT12):c.906C>T (p.Val302=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 224569	NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)	GALNT12 (D303N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 485635	NM_024642.5(GALNT12):c.909T>C (p.Asp303=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 410577	NM_024642.5(GALNT12):c.925A>G (p.Thr309Ala)	GALNT12 (T309A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 416220	NM_024642.5(GALNT12):c.975G>A (p.Leu325=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 410591	NM_024642.5(GALNT12):c.1017C>A (p.Asn339Lys)	GALNT12 (N339K)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	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 410583	NM_024642.5(GALNT12):c.1208G>A (p.Arg403His)	GALNT12 (R403H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 859007	NM_024642.5(GALNT12):c.1213-10G>T	GALNT12	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 410579	NM_024642.5(GALNT12):c.1277A>G (p.Lys426Arg)	GALNT12 (K426R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 496665	NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs)	GALNT12 (W427fs)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 416219	NM_024642.5(GALNT12):c.1301C>T (p.Pro434Leu)	GALNT12 (P434L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 818973	NM_024642.5(GALNT12):c.1338C>G (p.Phe446Leu)	GALNT12 (F446L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 485649	NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg)	GALNT12 (G447R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1036369	NM_024642.5(GALNT12):c.1366G>A (p.Asp456Asn)	GALNT12 (D456N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 220673	NM_024642.5(GALNT12):c.1392C>G (p.Pro464=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 819355	NM_024642.5(GALNT12):c.1489C>T (p.Arg497Cys)	GALNT12 (R497C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 241509	NM_024642.5(GALNT12):c.1551C>T (p.Ile517=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	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 698934	NM_024642.5(GALNT12):c.1563C>T (p.Cys521=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 485641	NM_024642.5(GALNT12):c.1581G>A (p.Glu527=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 819587	NM_024642.5(GALNT12):c.1583A>G (p.Asn528Ser)	GALNT12 (N528S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 485681	NM_024642.5(GALNT12):c.1599G>A (p.Leu533=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 416221	NM_024642.5(GALNT12):c.1605+4G>A	GALNT12	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 241510	NM_024642.5(GALNT12):c.1677C>T (p.Phe559=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 485659	NM_024642.5(GALNT12):c.1691G>A (p.Arg564Gln)	GALNT12 (R564Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 410572	NM_024642.5(GALNT12):c.1706C>T (p.Ser569Leu)	GALNT12 (S569L)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 1 +2 more	GUncertain significance
Select item 700141	NM_024642.5(GALNT12):c.1707G>A (p.Ser569=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2681953	NM_024642.5(GALNT12):c.1719A>G (p.Lys573=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1415590	NM_024642.5(GALNT12):c.1744T>C (p.Ter582Arg)	GALNT12	Single nucleotide variant (stop lost)	not specified +1 more	GUncertain significance
Select item 1808947	GRCh37/hg19 9q22.33(chr9:101179298-101680286)x3	ANKS6, GABBR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815272	GRCh37/hg19 9q22.33(chr9:100953443-102003384)x3	ALG2, ANKS6 +7 more	Copy number gain	not provided	GUncertain significance

ClinVar

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Items: 90