ClinVar for MedGen (Select 904175) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1050742	NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met)	SRGAP1 (T61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931830	NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)	SRGAP1 (L245fs)	Insertion (frameshift variant)	Thyroid cancer, nonmedullary, 2	GUncertain significance
Select item 850426	NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)	HRAS, LRRC56 (R164P +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +5 more	GUncertain significance
Select item 835903	NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)	HRAS, LRRC56 (T31P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 739690	NM_020762.4(SRGAP1):c.2225-7G>A	SRGAP1	Single nucleotide variant (intron variant)	Thyroid cancer, nonmedullary, 2 +1 more	GLikely benign
Select item 644041	NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)	HRAS, LRRC56 (R161C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 560358	NM_000314.8(PTEN):c.672del (p.Tyr225fs)	PTEN (Y398fs +2 more)	Deletion (frameshift variant)	Cowden syndrome 1	GPathogenic
Select item 503537	NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)	HRAS, LRRC56 (Y4C)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GUncertain significance
Select item 477662	NM_002524.5(NRAS):c.25G>A (p.Val9Ile)	NRAS (V9I)	Single nucleotide variant (missense variant)	Linear nevus sebaceous syndrome +8 more	GUncertain significance
Select item 448926	NM_005343.4(HRAS):c.291-6T>G	HRAS, LRRC56	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 391700	NM_005343.4(HRAS):c.179G>T (p.Gly60Val)	HRAS, LRRC56 (G60V)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GPathogenic
Select item 208458	NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)	SRGAP1 (R617C +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder +1 more	GLikely benign; risk factor
Select item 208457	NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)	SRGAP1 (A275T)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 208456	NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)	SRGAP1 (Q149H)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 180856	NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)	HRAS, LRRC56 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	Large congenital melanocytic nevus +8 more	GUncertain significance
Select item 177918	NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)	HRAS, LRRC56 (R169W +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +7 more	GUncertain significance
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 45300	NM_005343.4(HRAS):c.330C>T (p.Pro110=)	HRAS, LRRC56 (P4L)	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 40448	NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)	HRAS, LRRC56 (P174S +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 40447	NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)	HRAS, LRRC56 (K170* +1 more)	Single nucleotide variant (nonsense +1 more)	Costello syndrome	GUncertain significance FDA Recognized database
Select item 40441	NM_005343.4(HRAS):c.357C>T (p.Asp119=)	HRAS, LRRC56 (T13I)	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 13966	NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	BRAF (K601E +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +6 more	GPathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12604	NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	HRAS, LRRC56 (G13D)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +10 more	GPathogenic
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of urinary bladder +8 more	GPathogenic
Select item 12601	NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)	HRAS, LRRC56 (Q61K)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +2 more	GPathogenic/Likely pathogenic
Select item 5022	NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)	MINPP1 (Q270R +1 more)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic
Select item 5021	NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)	MINPP1 (S41L)	Single nucleotide variant (missense variant)	Thyroid cancer, nonmedullary, 2	GPathogenic

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Items: 30