ClinVar for Gene (Select 5325) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307266	NM_001317162.2(PLAGL1):c.164C>A (p.Thr55Asn)	PLAGL1 (T55N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307265	NM_001317162.2(PLAGL1):c.829C>T (p.Pro277Ser)	PLAGL1 (P277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307264	NM_001317162.2(PLAGL1):c.940G>T (p.Ala314Ser)	PLAGL1 (A314S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214288	NM_001317162.2(PLAGL1):c.818A>G (p.Gln273Arg)	PLAGL1 (Q273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214287	NM_001317162.2(PLAGL1):c.802C>T (p.Pro268Ser)	PLAGL1 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214286	NM_001317162.2(PLAGL1):c.661C>A (p.Leu221Ile)	PLAGL1 (L169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214284	NM_001317162.2(PLAGL1):c.302A>C (p.Asn101Thr)	PLAGL1 (N101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214283	NM_001317162.2(PLAGL1):c.256C>G (p.Pro86Ala)	PLAGL1 (P34A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214282	NM_001317162.2(PLAGL1):c.1253T>A (p.Leu418Gln)	PLAGL1 (L418Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214281	NM_001317162.2(PLAGL1):c.1132C>G (p.Leu378Val)	PLAGL1 (L326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062907	GRCh37/hg19 6q24.2(chr6:144206499-144709592)x3	HYMAI, PLAGL1 +4 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3058057	NM_001317162.2(PLAGL1):c.1365G>A (p.Leu455=)	PLAGL1	Single nucleotide variant (synonymous variant)	PLAGL1-related disorder	GLikely benign
Select item 3046301	NM_001317162.2(PLAGL1):c.9G>A (p.Thr3=)	PLAGL1	Single nucleotide variant (synonymous variant +1 more)	PLAGL1-related disorder	GLikely benign
Select item 3038305	NM_001317162.2(PLAGL1):c.1134G>A (p.Leu378=)	PLAGL1	Single nucleotide variant (synonymous variant)	PLAGL1-related disorder	GBenign
Select item 2656963	NM_001317162.2(PLAGL1):c.1023A>T (p.Ser341=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605482	NM_001317162.2(PLAGL1):c.397G>A (p.Glu133Lys)	PLAGL1 (E133K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510015	NM_001317162.2(PLAGL1):c.413A>T (p.His138Leu)	PLAGL1 (H86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495907	NM_001317162.2(PLAGL1):c.1174C>T (p.Pro392Ser)	PLAGL1 (P340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484340	NM_001317162.2(PLAGL1):c.515G>A (p.Arg172Gln)	PLAGL1 (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2410032	NM_001317162.2(PLAGL1):c.439C>A (p.Pro147Thr)	PLAGL1 (P147T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388643	NM_001317162.2(PLAGL1):c.1199A>G (p.Asn400Ser)	PLAGL1 (N348S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366795	NM_001317162.2(PLAGL1):c.367G>T (p.Gly123Trp)	PLAGL1 (G123W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348759	NM_001317162.2(PLAGL1):c.301A>T (p.Asn101Tyr)	PLAGL1 (N101Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337820	NM_001317162.2(PLAGL1):c.234A>T (p.Lys78Asn)	PLAGL1 (K78N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323941	NM_001317162.2(PLAGL1):c.379C>A (p.Leu127Met)	PLAGL1 (L127M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320724	NM_001317162.2(PLAGL1):c.982A>G (p.Ile328Val)	PLAGL1 (I276V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290656	NM_001317162.2(PLAGL1):c.432A>C (p.Glu144Asp)	PLAGL1 (E144D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242616	NM_001317162.2(PLAGL1):c.35C>T (p.Thr12Met)	PLAGL1 (T12M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227230	NM_001317162.2(PLAGL1):c.651G>C (p.Gln217His)	PLAGL1 (Q165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801788	NM_001317162.2(PLAGL1):c.1321C>T (p.Pro441Ser)	PLAGL1 (P389S +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1527300	GRCh37/hg19 6q24.2(chr6:143874282-145071930)	HYMAI, LTV1 +6 more	Copy number gain	not specified	GPathogenic
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 1071172	NC_000006.11:g.(?_143772160)_(144508648_?)del	FUCA2, HYMAI +7 more	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 813847	GRCh37/hg19 6q24.2(chr6:144294042-144747647)x3	HYMAI, PLAGL1 +3 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 790833	NM_001317162.2(PLAGL1):c.421G>T (p.Ala141Ser)	PLAGL1 (A89S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788105	NM_001317162.2(PLAGL1):c.885G>A (p.Pro295=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785195	NM_001317162.2(PLAGL1):c.813C>T (p.Ala271=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784099	NM_001317162.2(PLAGL1):c.429G>A (p.Ala143=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781012	NM_001317162.2(PLAGL1):c.606T>C (p.His202=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780121	NM_001317162.2(PLAGL1):c.911A>C (p.Asn304Thr)	PLAGL1 (N252T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773731	NM_001317162.2(PLAGL1):c.1170C>A (p.Pro390=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771407	NM_001317162.2(PLAGL1):c.815C>T (p.Ala272Val)	PLAGL1 (A272V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746764	NM_001317162.2(PLAGL1):c.657A>G (p.Gly219=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743267	NM_001317162.2(PLAGL1):c.1137C>T (p.Asp379=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742950	NM_001317162.2(PLAGL1):c.1143C>A (p.Ser381=)	PLAGL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728226	NM_001317162.2(PLAGL1):c.679A>G (p.Thr227Ala)	PLAGL1 (T175A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726768	NM_001317162.2(PLAGL1):c.641A>G (p.Glu214Gly)	PLAGL1 (E162G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720367	NM_001317162.2(PLAGL1):c.719C>G (p.Pro240Arg)	PLAGL1 (P240R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 148146	GRCh38/hg38 6q24.2(chr6:144007486-144007839)x3	HYMAI, PLAGL1	Copy number gain	See cases	GBenign
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 61