ClinVar for MedGen (Select 1379805) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503516	NM_007373.4(SHOC2):c.145G>A (p.Asp49Asn)	SHOC2 (D49N)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 2435925	NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile)	SHOC2 (V334I +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 2431919	NM_007373.4(SHOC2):c.598C>T (p.Arg200Cys)	SHOC2 (R200C)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 2191116	NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)	SHOC2 (V18L)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +3 more	GUncertain significance
Select item 1809782	NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)	SHOC2 (T469I +1 more)	Single nucleotide variant (missense variant +1 more)	SHOC2-related condition +1 more	GUncertain significance
Select item 1696502	NM_007373.4(SHOC2):c.733G>A (p.Val245Ile)	SHOC2 (V245I)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 1484743	NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val)	SHOC2 (L519V +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 1354851	NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)	SHOC2 (S508G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1339314	NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)	SHOC2 (G53R)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GLikely pathogenic
Select item 1030215	NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile)	SHOC2 (T279I)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 1030214	NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs)	SHOC2 (K169fs)	Indel (frameshift variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 1014118	NM_007373.4(SHOC2):c.233C>T (p.Ala78Val)	SHOC2 (A78V)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 976139	NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)	SHOC2 (N434T +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 973849	NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr)	SHOC2	Indel (missense variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic
Select item 948626	NM_007373.4(SHOC2):c.619G>A (p.Val207Met)	SHOC2 (V207M)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +2 more	GUncertain significance
Select item 928786	NM_007373.4(SHOC2):c.1541-7del	SHOC2	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +5 more	GBenign/Likely benign
Select item 880485	NM_007373.4(SHOC2):c.-259G>A	LOC130004755, SHOC2	Single nucleotide variant (intron variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 880484	NM_007373.4(SHOC2):c.-264A>T	LOC130004755, SHOC2	Single nucleotide variant (non-coding transcript variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 880483	NM_007373.3(SHOC2):c.-346T>G	LOC130004755, SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 879706	NM_007373.4(SHOC2):c.*825G>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 879705	NM_007373.4(SHOC2):c.*685C>T	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 879344	NM_007373.4(SHOC2):c.*20C>T	SHOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 878793	NM_007373.4(SHOC2):c.*1508G>T	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 878792	NM_007373.4(SHOC2):c.*1381G>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 878756	NM_007373.4(SHOC2):c.1215A>G (p.Val405=)	SHOC2	Single nucleotide variant (synonymous variant +1 more)	RASopathy +3 more	GLikely benign
Select item 877762	NM_007373.4(SHOC2):c.*1269A>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 877761	NM_007373.4(SHOC2):c.*990T>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 877760	NM_007373.4(SHOC2):c.*979C>T	SHOC2	Single nucleotide variant (non-coding transcript variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 877714	NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg)	SHOC2 (P19R)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 877713	NM_007373.4(SHOC2):c.-235+15A>G	LOC130004755, SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 496406	NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr)	SHOC2 (S11Y)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
Select item 378581	NM_007373.4(SHOC2):c.*16C>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 373090	NM_007373.4(SHOC2):c.517A>G (p.Met173Val)	SHOC2 (M173V)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair +4 more	GConflicting classifications of pathogenicity
Select item 372586	NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp)	SHOC2 (R172W)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1 +2 more	GUncertain significance
Select item 298889	NM_007373.4(SHOC2):c.*1775T>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298888	NM_007373.4(SHOC2):c.*1775del	SHOC2	Deletion (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GLikely benign
Select item 298887	NM_007373.4(SHOC2):c.*1575A>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298886	NM_007373.4(SHOC2):c.*1503A>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298885	NM_007373.4(SHOC2):c.*1487G>T	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298884	NM_007373.4(SHOC2):c.*1487del	SHOC2	Deletion (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298883	NM_007373.4(SHOC2):c.*1486dup	SHOC2	Duplication (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298882	NM_007373.4(SHOC2):c.*1483G>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 298881	NM_007373.4(SHOC2):c.*1324G>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298880	NM_007373.4(SHOC2):c.*1323C>T	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298879	NM_007373.4(SHOC2):c.*1245T>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298878	NM_007373.4(SHOC2):c.*1218C>T	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298877	NM_007373.4(SHOC2):c.*1106A>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298876	NM_007373.4(SHOC2):c.*1062dup	SHOC2	Duplication (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GLikely benign
Select item 298875	NM_007373.4(SHOC2):c.*958C>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298874	NM_007373.4(SHOC2):c.*914G>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298873	NM_007373.4(SHOC2):c.*773G>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298872	NM_007373.4(SHOC2):c.*697C>T	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298871	NM_007373.4(SHOC2):c.*656C>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298870	NM_007373.4(SHOC2):c.*625del	SHOC2	Deletion (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298869	NM_007373.4(SHOC2):c.*614T>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298868	NM_007373.4(SHOC2):c.*518T>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298867	NM_007373.4(SHOC2):c.506_509del	SHOC2	Deletion (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GLikely benign
Select item 298866	NM_007373.4(SHOC2):c.*404A>G	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298865	NM_007373.4(SHOC2):c.*164T>A	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1	GBenign
Select item 298864	NM_007373.4(SHOC2):c.1422+9_1422+11del	SHOC2	Deletion (intron variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 298863	NM_007373.4(SHOC2):c.1284+15G>A	SHOC2	Single nucleotide variant (intron variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298862	NM_007373.4(SHOC2):c.774A>G (p.Gly258=)	SHOC2	Single nucleotide variant (synonymous variant +2 more)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 298861	NM_007373.4(SHOC2):c.703+15ATT[3]	SHOC2	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 298860	NM_007373.4(SHOC2):c.701T>C (p.Ile234Thr)	SHOC2 (I234T)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 298859	NM_007373.4(SHOC2):c.-254C>T	LOC130004755, SHOC2	Single nucleotide variant (5 prime UTR variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1	GUncertain significance
Select item 240838	NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)	SHOC2 (I204V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220874	NM_007373.4(SHOC2):c.1239G>T (p.Gln413His)	SHOC2 (Q413H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 218698	NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)	SHOC2 (Q269R)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome-like disorder with loose anagen hair 1 +3 more	GConflicting classifications of pathogenicity
Select item 181528	NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	SHOC2 (M173I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 181527	NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)	SHOC2 (I119V)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 181526	NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)	SHOC2 (E13A)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 181525	NM_007373.4(SHOC2):c.*3T>C	SHOC2	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome and Noonan-related syndrome +2 more	GBenign
Select item 181524	NM_007373.4(SHOC2):c.973-5del	SHOC2	Deletion (intron variant)	Noonan syndrome and Noonan-related syndrome +4 more	GBenign/Likely benign
Select item 179760	NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)	SHOC2 (S57F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 165236	NM_007373.4(SHOC2):c.-179T>A	SHOC2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 139110	NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)	SHOC2 (S532G +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 139109	NM_007373.4(SHOC2):c.1423-7C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 139107	NM_007373.4(SHOC2):c.841+12G>A	SHOC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 139106	NM_007373.4(SHOC2):c.704-16G>T	SHOC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 139105	NM_007373.4(SHOC2):c.-244G>T	LOC130004755, SHOC2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 139104	NM_007373.4(SHOC2):c.457C>T (p.Leu153=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 41450	NM_007373.4(SHOC2):c.1161+42T>C	SHOC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 40638	NM_007373.4(SHOC2):c.1161+9A>G	SHOC2	Single nucleotide variant (intron variant)	SHOC2-related condition +4 more	GBenign
Select item 40637	NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)	SHOC2 (E25G)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GConflicting classifications of pathogenicity
Select item 40635	NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)	SHOC2 (S4R)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40633	NM_007373.4(SHOC2):c.-114C>G	SHOC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 40632	NM_007373.4(SHOC2):c.-159T>C	SHOC2	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +3 more	GConflicting classifications of pathogenicity
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic FDA Recognized database

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Items: 88