ClinVar for MedGen (Select 138005) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077126	NM_178014.4(TUBB):c.1081C>T (p.Leu361Phe)	TUBB (L159F +4 more)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly +1 more	GLikely pathogenic
Select item 816936	NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr)	PGAP2 (A33T +2 more)	Single nucleotide variant (missense variant +4 more)	Congenital omphalocele +4 more	GUncertain significance
Select item 800722	NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)	MAP1B (R1538* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 800721	NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)	MAP1B (E1032* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9 +5 more	GPathogenic; risk factor
Select item 800720	NM_005909.5(MAP1B):c.2134del (p.Glu712fs)	MAP1B (E586fs +1 more)	Deletion (frameshift variant)	Periventricular nodular heterotopia 9 +4 more	GPathogenic; risk factor
Select item 627622	NM_001365902.3(NFIX):c.440G>A (p.Gly147Glu)	NFIX (G147E +5 more)	Single nucleotide variant (missense variant)	Pointed chin +14 more	GLikely pathogenic
Select item 598967	NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	BCORL1 (T178A)	Single nucleotide variant (missense variant)	Stereotypic movement disorder +22 more	GUncertain significance
Select item 598957	NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys)	DCHS1 (E293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 598956	NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe)	DCHS1 (S560F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 598953	NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	QARS1 (Y477C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoplasia of the corpus callosum +12 more	GConflicting classifications of pathogenicity
Select item 598952	NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	QARS1 (R378C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +14 more	GConflicting classifications of pathogenicity
Select item 523554	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	DGUOK, LOC129934096 (P22L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +8 more	GUncertain significance
Select item 523553	NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)	DGUOK (G93E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +7 more	GUncertain significance
Select item 523510	NM_015100.4(POGZ):c.2771del (p.Pro924fs)	POGZ (P924fs +4 more)	Deletion (frameshift variant)	Downturned corners of mouth +16 more	GPathogenic
Select item 523440	NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)	DYNC1H1 (M3310I)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GUncertain significance
Select item 376786	NM_003737.4(DCHS1):c.379G>A (p.Val127Ile)	DCHS1 (V127I)	Single nucleotide variant (missense variant)	Abnormal renal pelvis morphology +11 more	GBenign/Likely benign
Select item 375378	NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)	DNAH7 (F3585L)	Single nucleotide variant (missense variant)	Abnormal muscle tone +4 more	GPathogenic
Select item 374192	NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	OPHN1 (L249P)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +5 more	GLikely pathogenic
Select item 374155	NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer)	HERC2	Deletion (nonsense)	Optic nerve hypoplasia +7 more	GPathogenic
Select item 373964	NM_001271.4(CHD2):c.949A>G (p.Ile317Val)	CHD2 (I317V)	Single nucleotide variant (missense variant)	CNS hypomyelination +10 more	GLikely benign
Select item 373963	NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)	GLI2 (G85A)	Single nucleotide variant (missense variant +1 more)	CNS hypomyelination +10 more	GLikely benign
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn		Complex	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 267903	46;XY;t(3;14)(p23;q13)dn		Translocation	Hypoplasia of the corpus callosum +3 more	GLikely pathogenic
Select item 242897	NM_001271874.2(AAR2):c.520G>A (p.Val174Met)	AAR2 (V174M)	Single nucleotide variant (missense variant)	Global developmental delay +7 more	GLikely pathogenic
Select item 242895	NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)	GRM7 (I154T)	Single nucleotide variant (missense variant)	Hypotonia +5 more	GPathogenic/Likely pathogenic
Select item 242893	Single allele	RPS6KC1	Deletion	Periventricular leukomalacia +5 more	GLikely pathogenic
Select item 242892	NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser)	RPS6KC1 (G692S +8 more)	Single nucleotide variant (missense variant +1 more)	Periventricular leukomalacia +5 more	GLikely pathogenic
Select item 242891	NM_004521.3(KIF5B):c.2252A>G (p.His751Arg)	KIF5B (H751R)	Single nucleotide variant (missense variant)	Attention deficit hyperactivity disorder +4 more	GLikely pathogenic
Select item 242889	NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)	TMEM47 (R12P)	Single nucleotide variant (missense variant)	Cerebellar atrophy +5 more	GLikely pathogenic
Select item 242888	NM_177433.3(MAGED2):c.1003del (p.Gln335fs)	MAGED2 (Q335fs)	Deletion (frameshift variant)	Cerebellar atrophy +5 more	GLikely pathogenic
Select item 183357	NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	AP4M1 (R318* +1 more)	Single nucleotide variant (nonsense)	AP4M1-related condition +1 more	GPathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +16 more	GPathogenic/Likely pathogenic
Select item 41912	NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	WDR45 (R234* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +8 more	GPathogenic

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Items: 33