ClinVar for MedGen (Select 66357) - ClinVar

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

Links from MedGen

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709603	NM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)	PLXND1 (P823T)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GUncertain significance
Select item 1708248	NM_001822.7(CHN1):c.643G>A (p.Gly215Arg)	CHN1 (G189R +3 more)	Single nucleotide variant (missense variant +1 more)	Oromandibular-limb hypogenesis spectrum	GLikely pathogenic
Select item 267357	NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)	EBF3 (K193E)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely pathogenic
Select item 254123	NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)	NPIPA5 (P321L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 254122	NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GBenign/Likely benign
Select item 254121	NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp)	ZNF787 (E362D)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GUncertain significance
Select item 254120	NM_001351601.3(INTS6L):c.359del (p.Phe119_Leu120insTer)	INTS6L	Deletion (nonsense +2 more)	Oromandibular-limb hypogenesis spectrum	GUncertain significance
Select item 254119	NM_003458.4(BSN):c.7374GCAGCAGCAGCT[1] (p.2459QQQL[1])	BSN	Microsatellite (inframe_deletion)	Oromandibular-limb hypogenesis spectrum	GUncertain significance
Select item 254118	NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter)	ADAMTS8 (Y703*)	Single nucleotide variant (nonsense)	Oromandibular-limb hypogenesis spectrum	GUncertain significance
Select item 254117	NM_014424.5(HSPB7):c.442A>G (p.Thr148Ala)	HSPB7 (T148A +7 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254116	NM_000479.5(AMH):c.350G>A (p.Arg117Gln)	AMH (R117Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 254115	NM_003738.5(PTCH2):c.1156A>T (p.Ile386Phe)	PTCH2 (I386F)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254114	NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu)	PTCH2 (R673L)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 254113	NM_004573.3(PLCB2):c.2585C>A (p.Thr862Lys)	PLCB2 (T862K +1 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254112	NM_004573.3(PLCB2):c.1154A>G (p.Lys385Arg)	PLCB2 (K385R)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254111	NM_153606.4(GARIN4):c.1475G>A (p.Gly492Asp)	GARIN4 (G492D)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254110	NM_153606.4(GARIN4):c.1465T>C (p.Ser489Pro)	GARIN4 (S489P)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254109	NM_032138.7(KBTBD7):c.1208A>C (p.Lys403Thr)	LOC101929140, KBTBD7 (K403T)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254108	NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg)	KBTBD7, LOC101929140 (P499R)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254107	NM_001797.4(CDH11):c.1247C>T (p.Pro416Leu)	CDH11 (P416L +1 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254106	NM_001797.4(CDH11):c.95G>A (p.Arg32Gln)	CDH11 (R32Q)	Single nucleotide variant (missense variant +1 more)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254105	NM_006428.5(MRPL28):c.176G>C (p.Arg59Pro)	MRPL28 (R59P)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254104	NM_006428.5(MRPL28):c.610G>A (p.Val204Met)	MRPL28 (V204M)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254103	NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly)	BCDIN3D (D8G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 254102	NM_005068.3(SIM1):c.1994G>A (p.Arg665His)	SIM1 (R665H)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +1 more	GBenign
Select item 254101	NM_005068.3(SIM1):c.2119G>C (p.Asp707His)	SIM1 (D707H)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 254100	NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del)	HECW2 (N417del +1 more)	Deletion (inframe_deletion)	HECW2-related disorder +1 more	GLikely benign
Select item 254099	NM_001348768.2(HECW2):c.2264AAG[2] (p.Glu757del)	HECW2 (E757del +1 more)	Microsatellite (inframe_deletion)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 254098	NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn)	HECW2 (D1132N +1 more)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 29