ClinVar for MedGen (Select 98410) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429454	NM_004184.4(WARS1):c.317G>T (p.Arg106Leu)	WARS1 (R106L +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GUncertain significance
Select item 2429453	NM_001039591.3(USP9X):c.90G>C (p.Gln30His)	USP9X (Q30H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2429452	NM_001110556.2(FLNA):c.7930G>A (p.Val2644Ile)	FLNA, LOC107988032 (V2636I +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GUncertain significance
Select item 2429451	NM_016373.4(WWOX):c.33del (p.Asp11fs)	WWOX (D11fs)	Deletion (5 prime UTR variant +2 more)	Developmental delay	GLikely pathogenic
Select item 2429450	NM_205768.3(ZBTB18):c.32A>T (p.Glu11Val)	ZBTB18 (E11V +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GLikely pathogenic
Select item 2429449	NM_001323289.2(CDKL5):c.1243dup (p.Thr415fs)	CDKL5 (T415fs)	Duplication (frameshift variant)	Developmental delay	GLikely pathogenic
Select item 2429448	NM_007118.4(TRIO):c.34G>T (p.Ala12Ser)	TRIO (A12S)	Single nucleotide variant (missense variant +1 more)	Developmental delay	GUncertain significance
Select item 2429447	NM_012330.4(KAT6B):c.565A>T (p.Ser189Cys)	KAT6B (S189C)	Single nucleotide variant (missense variant +1 more)	Developmental delay	GUncertain significance
Select item 2429446	NM_015058.2(VWA8):c.947A>G (p.Asp316Gly)	VWA8 (D316G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429445	NM_207037.2(TCF12):c.457G>T (p.Gly153Trp)	TCF12 (G153W +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay	GPathogenic
Select item 1328546	NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu)	TRIO (S702L)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 982396	NM_001007527.2(LMBRD2):c.1447C>T (p.Arg483Cys)	LMBRD2 (R483C)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GLikely pathogenic
Select item 982242	NM_001394998.1(TANC2):c.2571_2572dup (p.Cys858fs)	TANC2 (C784fs +1 more)	Microsatellite (frameshift variant)	Developmental delay	GLikely pathogenic
Select item 982240	NM_001394998.1(TANC2):c.5571_5596dup (p.Phe1866delinsCysIleProLysValTer)	TANC2	Duplication (nonsense)	Developmental delay	GLikely pathogenic
Select item 982237	NM_001394998.1(TANC2):c.4080del (p.Glu1361fs)	TANC2 (E1277fs +1 more)	Deletion (frameshift variant)	Epilepsy +1 more	GLikely pathogenic
Select item 922131	NM_001394998.1(TANC2):c.4701del (p.Gln1567fs)	TANC2 (Q1483fs +1 more)	Deletion (frameshift variant)	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES +2 more	GPathogenic/Likely pathogenic
Select item 804412	NM_032789.5(PARP10):c.647_648del (p.Thr216fs)	PARP10 (T216fs +1 more)	Deletion (frameshift variant +1 more)	Developmental delay	GLikely pathogenic
Select item 800743	NM_153252.5(BRWD3):c.3602+20C>G	BRWD3	Single nucleotide variant (intron variant)	Developmental delay +1 more	GUncertain significance
Select item 684517	NM_001320.7(CSNK2B):c.367+5del	CSNK2B	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 635854	NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)	SOX4 (K105N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 635853	NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)	SOX4 (I59S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 635852	NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)	SOX4 (A112P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 633715	NC_000020.10:g.13448380_13597783del	TASP1, LOC125384585	Deletion	Developmental delay +2 more	GLikely pathogenic
Select item 633618	NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)	WDR37 (T130I)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +7 more	GPathogenic/Likely pathogenic
Select item 633617	NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	WDR37 (S119F)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +6 more	GPathogenic/Likely pathogenic
Select item 633616	NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	WDR37 (S129C)	Single nucleotide variant (missense variant)	Epilepsy +5 more	GLikely pathogenic
Select item 548142	NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SOX4 (F66L)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GLikely pathogenic
Select item 452423	NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn)	FOXRED1 (I485N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 440948	NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	WDR37 (T125I)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +6 more	GPathogenic/Likely pathogenic
Select item 431698	NM_005085.4(NUP214):c.5521+10del	NUP214	Deletion (intron variant)	Developmental delay +2 more	GLikely pathogenic
Select item 431697	NM_006311.4(NCOR1):c.97C>T (p.Arg33Cys)	NCOR1 (R33C)	Single nucleotide variant (missense variant)	Hyperlaxity +2 more	GLikely pathogenic
Select item 373960	NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	SCN3A (I875T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic FDA Recognized database
Select item 373959	NM_000834.5(GRIN2B):c.2395G>A (p.Gly799Ser)	GRIN2B (G799S)	Single nucleotide variant (missense variant)	Developmental delay +1 more	GLikely pathogenic
Select item 373931	NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs)	SNHG14, UBE3A (C840fs +8 more)	Duplication (frameshift variant +1 more)	Developmental delay +1 more	GLikely pathogenic
Select item 373904	NM_001323289.2(CDKL5):c.1471_1472dup (p.Leu492fs)	CDKL5 (L492fs)	Duplication (frameshift variant)	Developmental delay +1 more	GLikely pathogenic
Select item 370065	NC_012920.1(MT-CYB):m.15246G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 370060	NC_012920.1:m.14706A>G	MT-TE	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 370058	NC_012920.1:m.13713C>A	MT-ND5	Single nucleotide variant	Developmental delay +3 more	GUncertain significance
Select item 370057	NC_012920.1(MT-ND4):m.12018C>G	MT-ND4	Single nucleotide variant	Calcification of extrapyramidal basal ganglia +10 more	GUncertain significance
Select item 370056	NC_012920.1(MT-ND4):m.12013A>G	MT-ND4	Single nucleotide variant	Leigh syndrome +10 more	GUncertain significance
Select item 370055	NC_012920.1:m.12010C>T	MT-ND4	Single nucleotide variant	Dystonic disorder +1 more	GUncertain significance
Select item 370053	NC_012920.1:m.11815C>G	MT-ND4	Single nucleotide variant	Developmental delay +5 more	GUncertain significance
Select item 370052	NC_012920.1:m.9237G>A	MT-CO3	Single nucleotide variant	Leber optic atrophy	GPathogenic
Select item 370047	NC_012920.1:m.4664C>T	MT-ND2	Single nucleotide variant	Developmental delay +1 more	GUncertain significance
Select item 370045	NC_012920.1:m.3275C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 370044	NC_012920.1:m.1655A>G	MT-TV	Single nucleotide variant	Epilepsy +3 more	GUncertain significance
Select item 370043	NC_012920.1(MT-ND1):m.1661A>G	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 218934	t(12;19)(q24.21;q12)	MED13L	Translocation	Hypertelorism +13 more	GPathogenic
Select item 208777	NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	GNAO1 (E246K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +6 more	GPathogenic
Select item 207170	NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)	SLC25A22 (V227M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GConflicting classifications of pathogenicity
Select item 202231	GRCh37/hg19 19q11-12(chr19:27923819-28852848)x3		Copy number gain	See cases	GLikely benign
Select item 202230	GRCh37/hg19 5q21.1(chr5:98241365-98339090)x3	CHD1	Copy number gain	See cases	GUncertain significance
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	not provided +14 more	GPathogenic
Select item 6442	NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	CEP128, TSHR (C41S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 54