Related gene-specific medical variations for Gene (Select 9540) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181436	NM_004881.5(TP53I3):c.923C>T (p.Thr308Ile)	FAM228B, TP53I3 (T308I)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3181435	NM_004881.5(TP53I3):c.67C>T (p.Pro23Ser)	FAM228B, TP53I3 (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181434	NM_004881.5(TP53I3):c.485G>T (p.Arg162Leu)	FAM228B, TP53I3 (R162L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181433	NM_004881.5(TP53I3):c.484C>T (p.Arg162Trp)	FAM228B, TP53I3 (R162W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181432	NM_004881.5(TP53I3):c.35C>T (p.Pro12Leu)	FAM228B, TP53I3 (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060882	NM_004881.5(TP53I3):c.885A>G (p.Gln295=)	FAM228B, TP53I3 (T230A)	Single nucleotide variant (missense variant +2 more)	TP53I3-related disorder	GBenign
Select item 3058595	NM_004881.5(TP53I3):c.441T>C (p.His147=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3058570	NM_004881.5(TP53I3):c.337T>C (p.Leu113=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3054842	NM_004881.5(TP53I3):c.804T>C (p.Ser268=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3053556	NM_004881.5(TP53I3):c.755C>G (p.Ser252Ter)	FAM228B, TP53I3 (S252*)	Single nucleotide variant (nonsense +1 more)	TP53I3-related disorder	GLikely benign
Select item 3052130	NM_004881.5(TP53I3):c.666G>A (p.Trp222Ter)	FAM228B, TP53I3 (W222*)	Single nucleotide variant (nonsense +1 more)	TP53I3-related disorder	GLikely benign
Select item 3050861	NM_004881.5(TP53I3):c.603G>A (p.Thr201=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GBenign
Select item 3047782	NM_004881.5(TP53I3):c.667G>A (p.Glu223Lys)	FAM228B, TP53I3 (E223K)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3041780	NM_004881.5(TP53I3):c.273C>T (p.Pro91=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GBenign
Select item 3040432	NM_004881.5(TP53I3):c.585G>C (p.Glu195Asp)	FAM228B, TP53I3 (E195D)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3039519	NM_004881.5(TP53I3):c.813T>G (p.Asn271Lys)	FAM228B, TP53I3 (N271K)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3037275	NM_004881.5(TP53I3):c.219G>A (p.Gly73=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GBenign
Select item 3036962	NM_004881.5(TP53I3):c.75G>C (p.Pro25=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3036694	NM_004881.5(TP53I3):c.250G>A (p.Asp84Asn)	FAM228B, TP53I3 (D84N)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3034951	NM_004881.5(TP53I3):c.138+5C>A	FAM228B, TP53I3	Single nucleotide variant (intron variant)	TP53I3-related disorder	GLikely benign
Select item 3033021	NM_004881.5(TP53I3):c.*8T>G	FAM228B, TP53I3	Single nucleotide variant (3 prime UTR variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 3030592	NM_004881.5(TP53I3):c.732T>C (p.Gly244=)	FAM228B, TP53I3	Single nucleotide variant (synonymous variant +1 more)	TP53I3-related disorder	GLikely benign
Select item 2634857	NM_004881.5(TP53I3):c.160C>T (p.Pro54Ser)	FAM228B, TP53I3 (P54S)	Single nucleotide variant (missense variant +1 more)	TP53I3-related disorder	GUncertain significance
Select item 2634492	NM_004881.5(TP53I3):c.879C>T (p.Gly293=)	FAM228B, TP53I3 (P228S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2629628	NM_004881.5(TP53I3):c.817-8T>C	FAM228B, TP53I3	Single nucleotide variant (intron variant)	TP53I3-related disorder	GUncertain significance
Select item 2523965	NM_004881.5(TP53I3):c.785T>C (p.Ile262Thr)	FAM228B, TP53I3 (I262T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520390	NM_004881.5(TP53I3):c.602C>T (p.Thr201Met)	FAM228B, TP53I3 (T201M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2511457	NM_004881.5(TP53I3):c.950T>C (p.Met317Thr)	FAM228B, TP53I3 (M317T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393906	NM_004881.5(TP53I3):c.127G>A (p.Asp43Asn)	FAM228B, TP53I3 (D43N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369558	NM_004881.5(TP53I3):c.754T>C (p.Ser252Pro)	FAM228B, TP53I3 (S252P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317654	NM_004881.5(TP53I3):c.140G>T (p.Arg47Ile)	FAM228B, TP53I3 (R47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288815	NM_004881.5(TP53I3):c.931C>G (p.Gln311Glu)	FAM228B, TP53I3 (Q311E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277542	NM_004881.5(TP53I3):c.187C>T (p.Leu63Phe)	FAM228B, TP53I3 (L63F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204509	NM_004881.5(TP53I3):c.313C>G (p.Leu105Val)	FAM228B, TP53I3 (L105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 34