LOC129933535[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 58841	GRCh38/hg38 2p22.1(chr2:39036084-39379226)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 151417	GRCh38/hg38 2p22.1(chr2:39037130-39390808)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146813	GRCh38/hg38 2p22.1(chr2:39037204-39369028)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 644827	NC_000002.11:g.(?_39278265)_(39347583_?)dup	LOC129933533, LOC129933534 +2 more	Duplication	RASopathy	GUncertain significance
Select item 146924	GRCh38/hg38 2p22.1(chr2:39054693-39369157)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 477659	NC_000002.11:g.(?_39294749)_(39347583_?)dup	LOC129933533, LOC129933534 +2 more	Duplication	RASopathy	GUncertain significance
Select item 561375	NM_005633.4(SOS1):c.87+88del	LOC129933535, SOS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2886295	NM_005633.4(SOS1):c.87+19C>G	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1576951	NM_005633.4(SOS1):c.87+18C>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2872279	NM_005633.4(SOS1):c.87+16G>C	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2168004	NM_005633.4(SOS1):c.87+16G>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1290042	NM_005633.4(SOS1):c.87+15G>C	LOC129933535, SOS1	Single nucleotide variant (intron variant)	Fibromatosis, gingival, 1 +3 more	GBenign/Likely benign
Select item 227957	NM_005633.4(SOS1):c.87+12G>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy +3 more	GLikely benign
Select item 1936151	NM_005633.4(SOS1):c.87+10A>G	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 45378	NM_005633.4(SOS1):c.87+9C>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	Noonan syndrome 4 +4 more	GBenign/Likely benign
Select item 1516128	NM_005633.4(SOS1):c.87+6G>C	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 861904	NM_005633.4(SOS1):c.87+6G>T	LOC129933535, SOS1	Single nucleotide variant (intron variant)	RASopathy +3 more	GUncertain significance
Select item 2793638	NM_005633.4(SOS1):c.86A>C (p.Lys29Thr)	LOC129933535, SOS1 (K29T)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 372577	NM_005633.4(SOS1):c.83A>G (p.Lys28Arg)	LOC129933535, SOS1 (K28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2725609	NM_005633.4(SOS1):c.76G>T (p.Ala26Ser)	LOC129933535, SOS1 (A26S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1642352	NM_005633.4(SOS1):c.75T>A (p.Pro25=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 40640	NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)	LOC129933535, SOS1 (P25S)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1758208	NM_005633.4(SOS1):c.72G>T (p.Val24=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2567935	NM_005633.4(SOS1):c.70G>C (p.Val24Leu)	LOC129933535, SOS1 (V24L)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 2453691	NM_005633.4(SOS1):c.69G>A (p.Leu23=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1755508	NM_005633.4(SOS1):c.67C>T (p.Leu23=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1594072	NM_005633.4(SOS1):c.66A>G (p.Leu22=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GLikely benign
Select item 2779319	NM_005633.4(SOS1):c.64C>G (p.Leu22Val)	LOC129933535, SOS1 (L22V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1043116	NM_005633.4(SOS1):c.61G>A (p.Gly21Arg)	LOC129933535, SOS1 (G21R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2981163	NM_005633.4(SOS1):c.54G>C (p.Lys18Asn)	LOC129933535, SOS1 (K18N)	Single nucleotide variant (intron variant +1 more)	RASopathy	GUncertain significance
Select item 1457669	NM_005633.4(SOS1):c.51C>T (p.Pro17=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2742006	NM_005633.4(SOS1):c.48G>A (p.Ala16=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2573547	NM_005633.4(SOS1):c.38_46del (p.Glu13_Asn15del)	LOC129933535, SOS1	Deletion (inframe_indel +2 more)	not specified	GUncertain significance
Select item 1737841	NM_005633.4(SOS1):c.40G>A (p.Glu14Lys)	LOC129933535, SOS1 (E14K)	Single nucleotide variant (intron variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 1697173	NM_005633.4(SOS1):c.40G>T (p.Glu14Ter)	LOC129933535, SOS1 (E14*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 282591	NM_005633.4(SOS1):c.39A>G (p.Glu13=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign FDA Recognized database
Select item 1184719	NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)	LOC129933535, SOS1 (E13G)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome +4 more	GUncertain significance
Select item 1976288	NM_005633.4(SOS1):c.37G>C (p.Glu13Gln)	LOC129933535, SOS1 (E13Q)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1967317	NM_005633.4(SOS1):c.36C>T (p.Ser12=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2148186	NM_005633.4(SOS1):c.34A>G (p.Ser12Gly)	LOC129933535, SOS1 (S12G)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 1027085	NM_005633.4(SOS1):c.34A>T (p.Ser12Cys)	LOC129933535, SOS1 (S12C)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 853354	NM_005633.4(SOS1):c.33C>G (p.Phe11Leu)	LOC129933535, SOS1 (F11L)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1016854	NM_005633.4(SOS1):c.31T>C (p.Phe11Leu)	LOC129933535, SOS1 (F11L)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1484115	NM_005633.4(SOS1):c.28T>G (p.Phe10Val)	LOC129933535, SOS1 (F10V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1796193	NM_005633.4(SOS1):c.27G>A (p.Glu9=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1794893	NM_005633.4(SOS1):c.26A>T (p.Glu9Val)	LOC129933535, SOS1 (E9V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 561447	NM_005633.4(SOS1):c.25G>A (p.Glu9Lys)	LOC129933535, SOS1 (E9K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1394114	NM_005633.4(SOS1):c.23A>G (p.Tyr8Cys)	LOC129933535, SOS1 (Y8C)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1029999	NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)	LOC129933535, SOS1 (Y8F)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GUncertain significance
Select item 543988	NM_005633.4(SOS1):c.21C>G (p.Pro7=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 179402	NM_005633.4(SOS1):c.21C>T (p.Pro7=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 4 +4 more	GLikely benign
Select item 2076919	NM_005633.4(SOS1):c.20C>T (p.Pro7Leu)	LOC129933535, SOS1 (P7L)	Single nucleotide variant (missense variant +1 more)	RASopathy	GLikely benign
Select item 2070673	NM_005633.4(SOS1):c.17T>C (p.Leu6Pro)	LOC129933535, SOS1 (L6P)	Single nucleotide variant (missense variant +1 more)	RASopathy +1 more	GUncertain significance
Select item 2829821	NM_005633.4(SOS1):c.11A>G (p.Gln4Arg)	LOC129933535, SOS1 (Q4R)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1546368	NM_005633.4(SOS1):c.9G>A (p.Ala3=)	LOC129933535, SOS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2903082	NM_005633.4(SOS1):c.8C>T (p.Ala3Val)	LOC129933535, SOS1 (A3V)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 1420008	NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)	LOC129933535, SOS1 (A3S)	Single nucleotide variant (missense variant +1 more)	Fibromatosis, gingival, 1 +4 more	GConflicting classifications of pathogenicity
Select item 336023	NM_005633.4(SOS1):c.5A>T (p.Gln2Leu)	LOC129933535, SOS1 (Q2L)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 4 +2 more	GUncertain significance
Select item 1691547	NM_005633.4(SOS1):c.4C>A (p.Gln2Lys)	LOC129933535, SOS1 (Q2K)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome +1 more	GUncertain significance
Select item 1784200	NM_005633.4(SOS1):c.-1C>T	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 139232	NM_005633.4(SOS1):c.-9G>A	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 165290	NM_005633.4(SOS1):c.-15C>T	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 378935	NM_005633.4(SOS1):c.-21C>G	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 379055	NM_005633.4(SOS1):c.-32C>T	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 506314	NM_005633.4(SOS1):c.-43C>T	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 139231	NM_005633.4(SOS1):c.-47C>G	LOC129933535, SOS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70