PLAG1[gene] and "single gene"[properties] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1879713	NM_002655.3(PLAG1):c.1461C>G (p.Ser487Arg)	PLAG1 (S405R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706762	NM_002655.3(PLAG1):c.1457T>G (p.Leu486Ter)	PLAG1 (L404* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3214278	NM_002655.3(PLAG1):c.1408A>G (p.Ile470Val)	PLAG1 (I470V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307263	NM_002655.3(PLAG1):c.1399G>T (p.Ala467Ser)	PLAG1 (A467S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429191	NM_002655.3(PLAG1):c.1373C>G (p.Pro458Arg)	PLAG1 (P376R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1345016	NM_002655.3(PLAG1):c.1372C>A (p.Pro458Thr)	PLAG1 (P376T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1309069	NM_002655.3(PLAG1):c.1367dup (p.Gln459fs)	PLAG1 (Q377fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 253033	NM_002655.3(PLAG1):c.1363del (p.Gln455fs)	PLAG1 (Q373fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic
Select item 3041287	NM_002655.3(PLAG1):c.1357G>C (p.Val453Leu)	PLAG1 (V371L +1 more)	Single nucleotide variant (missense variant)	PLAG1-related disorder	GLikely benign
Select item 2355110	NM_002655.3(PLAG1):c.1346C>T (p.Ala449Val)	PLAG1 (A449V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2328640	NM_002655.3(PLAG1):c.1261T>G (p.Leu421Val)	PLAG1 (L339V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214277	NM_002655.3(PLAG1):c.1228C>T (p.Pro410Ser)	PLAG1 (P328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346149	NM_002655.3(PLAG1):c.1213A>G (p.Ile405Val)	PLAG1 (I405V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1172638	NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)	PLAG1 (D315fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 2333592	NM_002655.3(PLAG1):c.1155T>G (p.Asp385Glu)	PLAG1 (D303E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3307259	NM_002655.3(PLAG1):c.1093G>C (p.Gly365Arg)	PLAG1 (G283R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307255	NM_002655.3(PLAG1):c.194T>C (p.Ile65Thr)	PLAG1 (I65T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2244779	NM_002655.3(PLAG1):c.74G>A (p.Arg25His)	PLAG1 (R25H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430393	NM_002655.3(PLAG1):c.68G>A (p.Arg23His)	PLAG1 (R23H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2220053	NM_002655.3(PLAG1):c.67C>T (p.Arg23Cys)	PLAG1 (R23C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3307260	NM_002655.3(PLAG1):c.44C>T (p.Thr15Ile)	PLAG1 (T15I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21