ClinVar for MedGen (Select 946158) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 690278	Single allele	B4GALT7, CDHR2 +28 more	Deletion	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689720	NM_001321075.3(DLG4):c.1543+2T>C	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62 +1 more	GLikely pathogenic
Select item 689719	NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)	ARID1A (P1568S)	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 689718	NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs)	DLG4, LOC126862479 (F340fs +5 more)	Deletion (frameshift variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 689717	NM_001321075.3(DLG4):c.1714del (p.Glu572fs)	DLG4 (E512fs +5 more)	Deletion (frameshift variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 689716	NM_001040142.2(SCN2A):c.5641G>T (p.Glu1881Ter)	SCN2A (E1881*)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689715	NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)	EHMT1 (R483* +2 more)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 689714	NM_015135.3(NUP205):c.595T>G (p.Phe199Val)	NUP205 (F199V)	Single nucleotide variant (5 prime UTR variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689713	NM_001365902.3(NFIX):c.344G>A (p.Arg115Gln)	NFIX (R115Q +5 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689712	NM_024757.5(EHMT1):c.2608-1G>C	EHMT1	Single nucleotide variant (splice acceptor variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689711	NM_000701.8(ATP1A1):c.998C>G (p.Pro333Arg)	ATP1A1 (P302R +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689710	NM_022075.5(CERS2):c.358C>T (p.Arg120Cys)	CERS2 (R120C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689709	NM_001190274.2(FBXO11):c.1042-1G>C	FBXO11	Single nucleotide variant (splice acceptor variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689708	NM_033133.5(CNP):c.1057C>T (p.Arg353Trp)	CNP (R333W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 689707	NM_015595.4(ARHGEF26):c.999GAA[3] (p.Lys336del)	ARHGEF26 (K336del)	Microsatellite (inframe_deletion)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689706	NM_001356.5(DDX3X):c.147del (p.Gly51fs)	DDX3X (G51fs)	Deletion (frameshift variant +3 more)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689705	NM_001795.5(CDH5):c.265G>A (p.Val89Met)	CDH5 (V89M)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689704	NM_004380.3(CREBBP):c.1585A>G (p.Met529Val)	CREBBP (M491V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 689703	NM_000384.3(APOB):c.619A>G (p.Arg207Gly)	APOB (R207G)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689702	NM_006772.3(SYNGAP1):c.2047A>G (p.Ile683Val)	SYNGAP1, SYNGAP1-AS1 (I683V)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689701	NM_014795.4(ZEB2):c.3067G>A (p.Gly1023Arg)	ZEB2 (G999R +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689700	NM_000455.5(STK11):c.418_420del (p.Leu140del)	STK11 (L140del)	Deletion (inframe_deletion)	Peutz-Jeghers syndrome +1 more	GConflicting classifications of pathogenicity
Select item 689699	NM_198488.5(FAM83H):c.682G>A (p.Val228Ile)	FAM83H (V228I)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689698	NM_012181.5(FKBP8):c.724G>A (p.Ala242Thr)	FKBP8, LOC112543469 (A241T +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689697	NM_020693.4(DSCAML1):c.3529G>A (p.Val1177Ile)	DSCAML1 (V1177I)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689696	NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp)	KCNB1 (N414D)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689695	NM_000268.4(NF2):c.535A>G (p.Met179Val)	NF2 (M138V +3 more)	Single nucleotide variant (missense variant +2 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689694	NM_139075.4(TPCN2):c.1259C>T (p.Pro420Leu)	TPCN2 (P420L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 689693	NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu)	PNPLA6 (P216L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GUncertain significance
Select item 689692	NM_001206999.2(CIT):c.5047C>A (p.Leu1683Met)	CIT (L1641M +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689691	NM_030632.3(ASXL3):c.3613G>T (p.Glu1205Ter)	ASXL3 (E1205*)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689690	NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg)	BEGAIN (G369R +13 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689689	NM_052846.2(EMILIN3):c.1645C>T (p.Arg549Cys)	EMILIN3 (R549C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689688	NM_015360.5(MTREX):c.1781A>G (p.His594Arg)	MTREX (H594R)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689687	NM_014653.4(WSCD2):c.628G>A (p.Ala210Thr)	WSCD2 (A210T)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689686	NM_000701.8(ATP1A1):c.2021C>G (p.Thr674Ser)	ATP1A1, ATP1A1-AS1 (T674S +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689685	NM_001999.4(FBN2):c.4154T>C (p.Leu1385Pro)	FBN2 (L1385P)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689684	NM_007166.4(PICALM):c.274-1G>A	PICALM	Single nucleotide variant (splice acceptor variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689683	NM_001018057.2(DKK3):c.505C>A (p.Gln169Lys)	DKK3 (Q169K)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689682	NM_014795.4(ZEB2):c.3098del (p.Lys1033fs)	ZEB2 (K1009fs +1 more)	Deletion (frameshift variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689681	NM_052892.5(PKD1L2):c.2734_2758del25 (p.Gly913Aspfs)	PKD1L2 (G231fs +1 more)	Deletion (frameshift variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689680	NM_001144.6(AMFR):c.1166G>A (p.Arg389His)	AMFR (R389H +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689679	NM_015135.3(NUP205):c.2008A>G (p.Thr670Ala)	NUP205 (T312A +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689678	NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)	ARID1B (M2048T +4 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +1 more	GLikely pathogenic
Select item 689677	NM_020850.3(RANBP10):c.1180G>A (p.Ala394Thr)	RANBP10 (A277T +3 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689676	NM_018009.5(TAPBPL):c.526A>C (p.Asn176His)	TAPBPL (N46H +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689675	NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)	TAF1 (N1476H +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 689674	NM_017699.3(SIDT1):c.2339G>A (p.Arg780His)	SIDT1 (R358H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 689673	NM_004415.4(DSP):c.800A>C (p.Asp267Ala)	DSP (D267A)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689672	NM_001130528.3(SPAG9):c.650C>T (p.Thr217Ile)	SPAG9 (T217I +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689671	NM_001384711.1(GLT8D2):c.785G>C (p.Ser262Thr)	GLT8D2 (S262T +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689670	NM_001369741.1(ZBTB46):c.1421A>G (p.Tyr474Cys)	ZBTB46 (Y474C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689669	NM_004369.4(COL6A3):c.432G>C (p.Gln144His)	COL6A3 (Q144H)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689668	NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)	ARID1B (E1756fs +4 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 689667	NM_194318.4(B3GLCT):c.1354dup (p.Asp452fs)	B3GLCT (D452fs)	Duplication (frameshift variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689666	NM_001136107.2(NTMT2):c.13G>C (p.Gly5Arg)	NTMT2 (G5R)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689665	NM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del)	CLDN11	Deletion (inframe_deletion)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689664	NM_005336.6(HDLBP):c.2470C>G (p.Arg824Gly)	ANO7, HDLBP (R791G +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689663	NM_001170629.2(CHD8):c.3338del (p.Arg1113fs)	CHD8 (R834fs +1 more)	Deletion (frameshift variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 689662	NM_007245.4(ATXN2L):c.944T>C (p.Met315Thr)	ATXN2L (M315T +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689661	NM_020336.4(RALGAPB):c.457C>T (p.Arg153Cys)	RALGAPB (R153C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 689660	NM_006656.6(NEU3):c.316C>G (p.Leu106Val)	NEU3 (P35R +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 638663	NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro)	ZBTB20 (L621P +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 560026	NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)	NFIB (K126E +6 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development +3 more	GPathogenic/Likely pathogenic
Select item 559890	NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter)	BCL11A (E65*)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability +1 more	GLikely pathogenic
Select item 559884	NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu)	NFIX (K113E +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GLikely pathogenic
Select item 559881	NM_002501.3(NFIX):c.[346C>T;348G>A]	NFIX (R116W +5 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GLikely pathogenic
Select item 559866	NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs)	MED13L (I1315fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GLikely pathogenic
Select item 559857	NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro)	ZBTB18 (L425P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GLikely pathogenic
Select item 549739	NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys)	CHD3 (N1159K +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 523678	NM_006593.4(TBR1):c.896G>A (p.Trp299Ter)	TBR1 (W299*)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability +2 more	GLikely pathogenic
Select item 436065	NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)	NSD1 (I2007T +5 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 431171	NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)	CIC (Q992* +1 more)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability	GLikely pathogenic
Select item 424394	NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	GABRA1 (E403Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 421382	NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)	SLC6A1 (S459R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 235887	NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	CDK13 (N842S)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 628	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH (T380M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database

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Items: 77