SELPLG[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3159687	NM_003006.4(SELPLG):c.1213C>T (p.Leu405Phe)	SELPLG (L421F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393248	NM_003006.4(SELPLG):c.1169C>T (p.Pro390Leu)	SELPLG (P390L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609507	NM_003006.4(SELPLG):c.1156A>G (p.Lys386Glu)	SELPLG (K402E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317270	NM_003006.4(SELPLG):c.1144G>A (p.Gly382Arg)	SELPLG (G382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159686	NM_003006.4(SELPLG):c.1081G>C (p.Glu361Gln)	SELPLG (E361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361084	NM_003006.4(SELPLG):c.1064G>A (p.Arg355His)	SELPLG (R371H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159685	NM_003006.4(SELPLG):c.1063C>T (p.Arg355Cys)	SELPLG (R355C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159684	NM_003006.4(SELPLG):c.1039C>T (p.Arg347Cys)	SELPLG (R347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042773	NM_003006.4(SELPLG):c.1005C>T (p.Phe335=)	SELPLG	Single nucleotide variant (synonymous variant)	SELPLG-related disorder	GLikely benign
Select item 2257338	NM_003006.4(SELPLG):c.949G>A (p.Val317Met)	SELPLG (V317M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057867	NM_003006.4(SELPLG):c.913G>A (p.Val305Ile)	SELPLG (V305I +1 more)	Single nucleotide variant (missense variant)	SELPLG-related disorder	GLikely benign
Select item 756589	NM_003006.4(SELPLG):c.912C>T (p.Ser304=)	SELPLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159694	NM_003006.4(SELPLG):c.865T>C (p.Ser289Pro)	SELPLG (S305P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509752	NM_003006.4(SELPLG):c.790A>G (p.Thr264Ala)	SELPLG (T264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159693	NM_003006.4(SELPLG):c.761C>T (p.Thr254Ile)	SELPLG (T254I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718350	NM_003006.4(SELPLG):c.717G>A (p.Thr239=)	SELPLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2270897	NM_003006.4(SELPLG):c.694C>G (p.Gln232Glu)	SELPLG (Q232E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558277	NM_003006.4(SELPLG):c.536C>T (p.Thr179Met)	SELPLG (T195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317271	NM_003006.4(SELPLG):c.526C>T (p.Pro176Ser)	SELPLG (P192S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254891	NM_003006.4(SELPLG):c.515A>C (p.Gln172Pro)	SELPLG (Q172P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317269	NM_003006.4(SELPLG):c.476C>T (p.Thr159Met)	SELPLG (T159M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787930	NM_003006.4(SELPLG):c.470C>T (p.Thr157Met)	SELPLG (T157M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768578	NM_003006.4(SELPLG):c.404_433del (p.Gln135_Thr144del)	SELPLG	Deletion (inframe_deletion)	not provided	GBenign
Select item 2520905	NM_003006.4(SELPLG):c.416C>T (p.Thr139Met)	SELPLG (T139M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348769	NM_003006.4(SELPLG):c.326T>A (p.Met109Lys)	SELPLG (M109K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208051	NM_003006.4(SELPLG):c.325A>G (p.Met109Val)	SELPLG (M125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035787	NM_003006.4(SELPLG):c.324C>T (p.Asn108=)	SELPLG	Single nucleotide variant (synonymous variant)	SELPLG-related disorder	GLikely benign
Select item 2369024	NM_003006.4(SELPLG):c.311C>T (p.Thr104Met)	SELPLG (T104M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211111	NM_003006.4(SELPLG):c.266G>A (p.Arg89His)	SELPLG (R105H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398662	NM_003006.4(SELPLG):c.247G>A (p.Val83Met)	SELPLG (V99M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362642	NM_003006.4(SELPLG):c.245C>G (p.Thr82Ser)	SELPLG (T98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159690	NM_003006.4(SELPLG):c.223C>T (p.Pro75Ser)	SELPLG (P75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159689	NM_003006.4(SELPLG):c.208A>C (p.Thr70Pro)	SELPLG (T86P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159688	NM_003006.4(SELPLG):c.206C>A (p.Thr69Asn)	SELPLG (T85N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055988	NM_003006.4(SELPLG):c.186G>A (p.Met62Ile)	SELPLG (M62I +1 more)	Single nucleotide variant (missense variant)	SELPLG-related disorder	GBenign
Select item 2285338	NM_003006.4(SELPLG):c.170C>T (p.Thr57Met)	SELPLG (T57M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044050	NM_003006.4(SELPLG):c.132C>T (p.Thr44=)	SELPLG	Single nucleotide variant (synonymous variant)	SELPLG-related disorder	GLikely benign
Select item 2330707	NM_003006.4(SELPLG):c.34C>A (p.Leu12Met)	SELPLG (L28M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570854	GRCh37/hg19 12q23.3-24.11(chr12:108917234-109052695)x3	CORO1C, ISCU +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 50