5781[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1005

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 59818	GRCh38/hg38 12q24.13(chr12:112303430-112676526)x3	HECTD4, LOC130008808 +5 more	Copy number gain	See cases	GPathogenic
Select item 59819	GRCh38/hg38 12q24.13(chr12:112307532-112722967)x3	HECTD4, LOC130008809 +5 more	Copy number gain	See cases	GPathogenic
Select item 145960	GRCh38/hg38 12q24.13(chr12:112416863-112426595)x3	PTPN11, RPL6	Copy number gain	See cases	GLikely pathogenic
Select item 882155	NM_002834.3(PTPN11):c.-317C>G	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 695270	NC_000012.12:g.112418795C>T	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	RASopathy +1 more	GBenign/Likely benign
Select item 882403	NM_002834.3(PTPN11):c.-291G>A	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 307219	NM_002834.3(PTPN11):c.-287G>C	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	LEOPARD syndrome 1 +2 more	GBenign/Likely benign
Select item 307220	NM_002834.5(PTPN11):c.-273G>A	PTPN11	Single nucleotide variant	not provided +5 more	GBenign
Select item 307221	NM_002834.3(PTPN11):c.-245C>G	PTPN11	Single nucleotide variant	Noonan syndrome 1 +2 more	GUncertain significance
Select item 307222	NM_002834.4(PTPN11):c.-179G>C	PTPN11	Single nucleotide variant	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880815	NM_002834.4(PTPN11):c.-176G>T	PTPN11	Single nucleotide variant	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880816	NM_002834.5(PTPN11):c.-161T>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880817	NM_002834.5(PTPN11):c.-151C>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 307223	NM_002834.5(PTPN11):c.-139G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882208	NM_002834.5(PTPN11):c.-77G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882209	NM_002834.5(PTPN11):c.-71C>T	PTPN11	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 138841	NM_002834.5(PTPN11):c.-45T>G	PTPN11	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1254995	NM_002834.5(PTPN11):c.-33G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 649081	NC_000012.11:g.(?_112856896)_(112942588_?)dup	PTPN11	Duplication	RASopathy	GUncertain significance
Select item 518159	NM_002834.5(PTPN11):c.-13G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	not specified	GConflicting classifications of pathogenicity
Select item 2577379	NM_002834.5(PTPN11):c.-7G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3427714	NM_002834.5(PTPN11):c.-2A>C	PTPN11	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 13349	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	PTPN11 (T2I)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 3427731	NM_002834.5(PTPN11):c.6A>T (p.Thr2=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1160776	NM_002834.5(PTPN11):c.6A>G (p.Thr2=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1530049	NM_002834.5(PTPN11):c.10C>A (p.Arg4=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 280283	NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly)	PTPN11 (R4G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2729546	NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln)	PTPN11 (R4Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1445534	NM_002834.5(PTPN11):c.14+6G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 644387	NM_002834.5(PTPN11):c.14+6G>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2862713	NM_002834.5(PTPN11):c.14+8G>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 307224	NM_002834.5(PTPN11):c.14+8G>T	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 2808637	NM_002834.5(PTPN11):c.14+9C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1634210	NM_002834.5(PTPN11):c.14+9C>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1598388	NM_002834.5(PTPN11):c.14+11C>A	PTPN11	Single nucleotide variant (intron variant)	LEOPARD syndrome 1 +4 more	GLikely benign
Select item 2772876	NM_002834.5(PTPN11):c.14+12C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2155756	NM_002834.5(PTPN11):c.14+12C>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2076445	NM_002834.5(PTPN11):c.14+15_14+31dup	PTPN11	Duplication (intron variant)	RASopathy	GLikely benign
Select item 2027860	NM_002834.5(PTPN11):c.14+15G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1554248	NM_002834.5(PTPN11):c.14+25_14+41del	PTPN11	Deletion (intron variant)	RASopathy	GLikely benign
Select item 40478	NM_002834.5(PTPN11):c.14+25G>C	PTPN11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1223342	NM_002834.5(PTPN11):c.14+42C>T	PTPN11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 40480	NM_002834.5(PTPN11):c.14+54C>A	PTPN11	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +1 more	GBenign
Select item 180163	NM_002834.5(PTPN11):c.15-38C>T	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome	GBenign
Select item 1611349	NM_002834.5(PTPN11):c.15-20A>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 1217254	NM_002834.5(PTPN11):c.15-19C>A	PTPN11	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2800743	NM_002834.5(PTPN11):c.15-15_15-12del	PTPN11	Deletion (intron variant)	RASopathy	GLikely benign
Select item 1654874	NM_002834.5(PTPN11):c.15-16T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2990032	NM_002834.5(PTPN11):c.15-15G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 620622	NM_002834.5(PTPN11):c.15-4del	PTPN11	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3032947	NM_002834.5(PTPN11):c.15-3A>C	PTPN11	Single nucleotide variant (intron variant)	PTPN11-related disorder	GLikely benign
Select item 1435208	NM_002834.5(PTPN11):c.18del (p.Trp6fs)	PTPN11 (W6fs)	Deletion (frameshift variant)	RASopathy	GPathogenic
Select item 2785856	NM_002834.5(PTPN11):c.18G>T (p.Trp6Cys)	PTPN11 (W6C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2568101	NM_002834.5(PTPN11):c.18G>C (p.Trp6Cys)	PTPN11 (W6C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587734	NM_002834.5(PTPN11):c.28A>T (p.Asn10Tyr)	PTPN11 (N10Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1684677	NM_002834.5(PTPN11):c.28A>C (p.Asn10His)	PTPN11 (N10H)	Single nucleotide variant (missense variant)	Metachondromatosis	GUncertain significance
Select item 838860	NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp)	PTPN11 (N10D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2705464	NM_002834.5(PTPN11):c.29A>C (p.Asn10Thr)	PTPN11 (N10T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2076362	NM_002834.5(PTPN11):c.29A>G (p.Asn10Ser)	PTPN11 (N10S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2704602	NM_002834.5(PTPN11):c.32T>C (p.Ile11Thr)	PTPN11 (I11T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1391673	NM_002834.5(PTPN11):c.34A>G (p.Thr12Ala)	PTPN11 (T12A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 736408	NM_002834.5(PTPN11):c.36T>C (p.Thr12=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely benign
Select item 2861237	NM_002834.5(PTPN11):c.42G>A (p.Val14=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 44608	NM_002834.5(PTPN11):c.48A>G (p.Ala16=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benignFDA Recognized database
Select item 135112	NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)	PTPN11 (N18S)	Single nucleotide variant (missense variant)	RASopathy	GBenignFDA Recognized database
Select item 2815206	NM_002834.5(PTPN11):c.55C>G (p.Leu19Val)	PTPN11 (L19V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2899346	NM_002834.5(PTPN11):c.60G>A (p.Leu20=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 981576	NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)	PTPN11 (T22A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 44612	NM_002834.5(PTPN11):c.66A>G (p.Thr22=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1163356	NM_002834.5(PTPN11):c.80G>A (p.Gly27Asp)	PTPN11 (G27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706401	NM_002834.5(PTPN11):c.91G>T (p.Ala31Ser)	PTPN11 (A31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976032	NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)	PTPN11 (A31G)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1	GLikely pathogenic
Select item 1562594	NM_002834.5(PTPN11):c.99T>C (p.Pro33=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 935917	NM_002834.5(PTPN11):c.103A>G (p.Lys35Glu)	PTPN11 (K35E)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 561739	NM_002834.5(PTPN11):c.103A>C (p.Lys35Gln)	PTPN11 (K35Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2739660	NM_002834.5(PTPN11):c.104A>T (p.Lys35Ile)	PTPN11 (K35I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 1789068	NM_002834.5(PTPN11):c.108T>C (p.Ser36=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1274616	NM_002834.5(PTPN11):c.114T>G (p.Pro38=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 280367	NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg)	PTPN11 (G39R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 764792	NM_002834.5(PTPN11):c.117A>C (p.Gly39=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 44595	NM_002834.5(PTPN11):c.119A>G (p.Asp40Gly)	PTPN11 (D40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 40482	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11 (T42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1341338	NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)	PTPN11 (L43V)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 561500	NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)	PTPN11 (L43F)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 287230	NM_002834.5(PTPN11):c.132C>T (p.Ser44=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 40483	NM_002834.5(PTPN11):c.132C>A (p.Ser44=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1044883	NM_002834.5(PTPN11):c.133G>A (p.Val45Ile)	PTPN11 (V45I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 180173	NM_002834.5(PTPN11):c.137+35G>A	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome	GBenign
Select item 1211301	NM_002834.5(PTPN11):c.137+42A>G	PTPN11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379233	NM_002834.5(PTPN11):c.137+49A>T	PTPN11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1249994	NM_002834.5(PTPN11):c.138-216dup	PTPN11	Duplication (intron variant)	not provided	GBenign
Select item 1196749	NM_002834.5(PTPN11):c.138-216del	PTPN11	Deletion (intron variant)	not provided	GLikely benign
Select item 561439	NM_002834.5(PTPN11):c.138-181G>C	PTPN11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2027659	NM_002834.5(PTPN11):c.138-12G>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 380969	NM_002834.5(PTPN11):c.138-4T>G	PTPN11	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 2581816	NM_002834.5(PTPN11):c.138-2A>G	PTPN11	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1212983	NM_002834.5(PTPN11):c.145G>A (p.Gly49Arg)	PTPN11 (G48R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135113	NM_002834.5(PTPN11):c.148G>A (p.Ala50Thr)	PTPN11 (A50T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 40484	NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)	PTPN11 (T52I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenicFDA Recognized database

<< First< Prev

Page of 11