GALNT12[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 specified +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 specified +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 provided +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)	Colorectal cancer, susceptibility to, 1 +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 specified +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 provided +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 specified +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)	not specified +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)	Colorectal cancer, susceptibility to, 1 +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)	Colorectal cancer, susceptibility to, 1 +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 specified +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)	not specified +2 more	GConflicting classifications of pathogenicity
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 1733774	NM_024642.5(GALNT12):c.114G>C (p.Arg38=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733734	NM_024642.5(GALNT12):c.114G>A (p.Arg38=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1736383	NM_024642.5(GALNT12):c.115G>A (p.Ala39Thr)	GALNT12 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2447045	NM_024642.5(GALNT12):c.116C>T (p.Ala39Val)	GALNT12 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1741877	NM_024642.5(GALNT12):c.117G>C (p.Ala39=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746797	NM_024642.5(GALNT12):c.119A>T (p.Gln40Leu)	GALNT12 (Q40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746764	NM_024642.5(GALNT12):c.119A>C (p.Gln40Pro)	GALNT12 (Q40P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2015872	NM_024642.5(GALNT12):c.120G>C (p.Gln40His)	GALNT12 (Q40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755261	NM_024642.5(GALNT12):c.122G>T (p.Arg41Leu)	GALNT12 (R41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1758097	NM_024642.5(GALNT12):c.123T>G (p.Arg41=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 640636	NM_024642.5(GALNT12):c.129CGGGGC[3] (p.42GA[4])	GALNT12	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 2566258	NM_024642.5(GALNT12):c.129CGGGGC[1] (p.42GA[2])	GALNT12	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 1765139	NM_024642.5(GALNT12):c.126G>T (p.Gly42=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2447048	NM_024642.5(GALNT12):c.133_152del (p.Ala45fs)	GALNT12 (A45fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1767668	NM_024642.5(GALNT12):c.127G>T (p.Ala43Ser)	GALNT12 (A43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1767660	NM_024642.5(GALNT12):c.127G>C (p.Ala43Pro)	GALNT12 (A43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 699565	NM_024642.5(GALNT12):c.129C>T (p.Ala43=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3227912	NM_024642.5(GALNT12):c.130G>A (p.Gly44Arg)	GALNT12 (G44R)	Single nucleotide variant (missense variant)	not specified	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 1351966	NM_024642.5(GALNT12):c.130G>C (p.Gly44Arg)	GALNT12 (G44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3227917	NM_024642.5(GALNT12):c.139_152dup (p.Pro52fs)	GALNT12 (P52fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 485678	NM_024642.5(GALNT12):c.132G>A (p.Gly44=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2586455	NM_024642.5(GALNT12):c.133G>A (p.Ala45Thr)	GALNT12 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 819047	NM_024642.5(GALNT12):c.138_139insTCCGGG (p.Gly46_Ala47insSerGly)	GALNT12	Insertion (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 3227916	NM_024642.5(GALNT12):c.134C>T (p.Ala45Val)	GALNT12 (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227915	NM_024642.5(GALNT12):c.134C>A (p.Ala45Asp)	GALNT12 (A45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586458	NM_024642.5(GALNT12):c.134_136delinsGCA (p.Ala45_Gly46delinsGlyArg)	GALNT12	Indel (missense variant)	not specified	GUncertain significance
Select item 818926	NM_024642.5(GALNT12):c.134C>G (p.Ala45Gly)	GALNT12 (A45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1970114	NM_024642.5(GALNT12):c.137_142dup (p.Ala47_Ala48insGlyAla)	GALNT12	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3227918	NM_024642.5(GALNT12):c.140_141insCAGGGC (p.Ala47_Ala48insArgAla)	GALNT12	Insertion (inframe_insertion)	not specified	GUncertain significance
Select item 2894512	NM_024642.5(GALNT12):c.136G>C (p.Gly46Arg)	GALNT12 (G46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2566249	NM_024642.5(GALNT12):c.136_139delinsAGAA (p.Gly46_Ala47delinsArgThr)	GALNT12	Indel (missense variant)	not specified	GUncertain significance
Select item 1771020	NM_024642.5(GALNT12):c.136G>T (p.Gly46Trp)	GALNT12 (G46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 485632	NM_024642.5(GALNT12):c.136G>A (p.Gly46Arg)	GALNT12 (G46R)	Single nucleotide variant (missense variant)	GALNT12-related disorder +2 more	GBenign/Likely benign
Select item 241508	NM_024642.5(GALNT12):c.136_138delinsAGA (p.Gly46Arg)	GALNT12 (G46R)	Indel (missense variant)	GALNT12-related disorder +2 more	GLikely benign
Select item 2586461	NM_024642.5(GALNT12):c.137G>A (p.Gly46Glu)	GALNT12 (G46E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1771520	NM_024642.5(GALNT12):c.138G>T (p.Gly46=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771517	NM_024642.5(GALNT12):c.138G>C (p.Gly46=)	GALNT12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 819114	NM_024642.5(GALNT12):c.140_141insCGGCGC (p.42_43GA[4])	GALNT12	Insertion (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 416213	NM_024642.5(GALNT12):c.138G>A (p.Gly46=)	GALNT12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1771743	NM_024642.5(GALNT12):c.139G>T (p.Ala47Ser)	GALNT12 (A47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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