GALK2[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 148540	GRCh38/hg38 15q21.1-21.2(chr15:49064333-50176783)x1	ATP8B4, COPS2 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3098038	NM_002044.4(GALK2):c.26G>A (p.Arg9His)	GALK2 (R9H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3098039	NM_002044.4(GALK2):c.31G>T (p.Val11Phe)	GALK2 (V11F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2410947	NM_002044.4(GALK2):c.34C>G (p.Gln12Glu)	GALK2 (Q12E)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2457930	NM_002044.4(GALK2):c.73A>G (p.Met25Val)	GALK2 (M14V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2340078	NM_002044.4(GALK2):c.137T>A (p.Ile46Lys)	GALK2 (I22K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098037	NM_002044.4(GALK2):c.173T>C (p.Val58Ala)	GALK2 (V34A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474445	NM_002044.4(GALK2):c.304A>C (p.Lys102Gln)	GALK2 (K91Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247454	NM_002044.4(GALK2):c.353T>C (p.Ile118Thr)	GALK2 (I107T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621574	NM_002044.4(GALK2):c.362A>T (p.His121Leu)	GALK2 (H121L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461947	NM_002044.4(GALK2):c.386G>A (p.Gly129Glu)	GALK2 (G129E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551352	NM_002044.4(GALK2):c.388A>G (p.Met130Val)	GALK2 (M119V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528971	NM_002044.4(GALK2):c.488G>A (p.Gly163Glu)	GALK2 (G152E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331663	NM_002044.4(GALK2):c.566T>A (p.Met189Lys)	GALK2 (M178K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471122	NM_002044.4(GALK2):c.572A>G (p.Gln191Arg)	GALK2 (Q62R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098040	NM_002044.4(GALK2):c.640G>T (p.Asp214Tyr)	GALK2 (D85Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460255	NM_002044.4(GALK2):c.640G>A (p.Asp214Asn)	GALK2 (D214N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594551	NM_002044.4(GALK2):c.742C>T (p.Arg248Trp)	GALK2 (R119W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484381	NM_002044.4(GALK2):c.751G>T (p.Ala251Ser)	GALK2 (A122S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484382	NM_002044.4(GALK2):c.752C>G (p.Ala251Gly)	GALK2 (A240G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612358	NM_002044.4(GALK2):c.935G>A (p.Arg312Gln)	GALK2 (R312Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284037	NM_002044.4(GALK2):c.992G>A (p.Arg331Gln)	GALK2 (R331Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098035	NM_002044.4(GALK2):c.1009A>G (p.Ser337Gly)	GALK2 (S208G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349965	NM_002044.4(GALK2):c.1012G>A (p.Glu338Lys)	GALK2 (E314K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614811	NM_002044.4(GALK2):c.1045T>C (p.Cys349Arg)	GALK2 (C338R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508552	NM_002044.4(GALK2):c.1115G>A (p.Arg372Gln)	GALK2 (R243Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510275	NM_002044.4(GALK2):c.1123T>C (p.Tyr375His)	GALK2 (Y246H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605445	NM_002044.4(GALK2):c.1212G>C (p.Trp404Cys)	FAM227B, GALK2 (W275C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488519	NM_002044.4(GALK2):c.1231A>G (p.Met411Val)	FAM227B, GALK2 (M400V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2464123	NM_002044.4(GALK2):c.1238C>T (p.Pro413Leu)	FAM227B, GALK2 (P402L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596827	NM_002044.4(GALK2):c.1279G>A (p.Ala427Thr)	FAM227B, GALK2 (A298T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3092349	NM_152647.3(FAM227B):c.1420C>T (p.Arg474Cys)	FAM227B, GALK2 (R474C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092348	NM_152647.3(FAM227B):c.1303A>C (p.Lys435Gln)	FAM227B, GALK2 (K435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325211	NM_152647.3(FAM227B):c.1291C>T (p.Arg431Cys)	FAM227B, GALK2 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617677	NM_152647.3(FAM227B):c.1276C>T (p.Pro426Ser)	FAM227B, GALK2 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472979	NM_152647.3(FAM227B):c.1258A>G (p.Ile420Val)	FAM227B, GALK2 (I420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363021	NM_152647.3(FAM227B):c.1157A>G (p.Asn386Ser)	FAM227B, GALK2 (N386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063396	GRCh37/hg19 15q21.1-21.2(chr15:49143050-50410530)x1	ATP8B4, COPS2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685515	GRCh37/hg19 15q21.1-21.2(chr15:49497932-49563046)x1	GALK2	Copy number loss	not provided	GUncertain significance
Select item 2685514	GRCh37/hg19 15q21.1-21.2(chr15:49477839-49602372)x1	GALK2	Copy number loss	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1808790	GRCh37/hg19 15q21.1-21.2(chr15:49359354-49653113)x1	COPS2, FAM227B +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526456	GRCh37/hg19 15q21.1-21.2(chr15:49430679-49588718)	COPS2, GALK2	Copy number loss	not specified	GUncertain significance
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341295	GRCh37/hg19 15q21.1-21.2(chr15:49481245-49629630)x1	FAM227B, GALK2	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980037	GRCh37/hg19 15q21.1-21.2(chr15:49452059-49550863)x1	GALK2	Copy number loss	not provided	GUncertain significance
Select item 815712	GRCh37/hg19 15q21.1-21.2(chr15:49142668-49514861)x3	COPS2, SHC4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685216	GRCh37/hg19 15q21.2(chr15:49563103-49654897)x1	FAM227B, GALK2	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 67