ClinVar for MedGen (Select 608952) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992738	NM_020320.5(RARS2):c.901C>T (p.Leu301Phe)	RARS2 (L126F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 873153	NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del)	MTHFR (K572del +1 more)	Microsatellite (inframe_deletion)	Global developmental delay +4 more	GPathogenic
Select item 599006	NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)	MTM1 (R421L +1 more)	Single nucleotide variant (missense variant)	not provided +14 more	GPathogenic/Likely pathogenic
Select item 598968	NM_001379110.1(SLC9A6):c.1662-19_1662-3del	SLC9A6	Deletion (intron variant)	Secondary microcephaly +14 more	GLikely pathogenic
Select item 562128	GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1	NFIB, ZDHHC21 +1 more	Copy number loss	Secondary microcephaly +1 more	GPathogenic
Select item 559442	NM_006295.3(VARS1):c.65C>A (p.Ala22Asp)	VARS1 (A22D)	Single nucleotide variant (missense variant)	Generalized hypotonia +5 more	GUncertain significance
Select item 559402	Single allele	LOC130058361, LOC130058362 +10 more	Deletion	Secondary microcephaly +5 more	GUncertain significance
Select item 544136	NM_005051.3(QARS1):c.781G>C (p.Gly261Arg)	QARS1 (G261R +1 more)	Single nucleotide variant (missense variant +1 more)	Secondary microcephaly +3 more	GUncertain significance
Select item 523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2 (T882S +2 more)	Single nucleotide variant (missense variant)	Arteriovenous malformation +10 more	GUncertain significance
Select item 523297	GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)	ADGRG2, MAP3K15 +2 more	Copy number gain	Global developmental delay +4 more	GUncertain significance
Select item 458712	NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	POLG (R1081Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GConflicting classifications of pathogenicity
Select item 431073	NM_182641.4(BPTF):c.2366del (p.Asn789fs)	BPTF (N789fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 431072	NM_182641.4(BPTF):c.989del (p.Leu330fs)	BPTF (L330fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 431071	NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg)	BPTF (M2853R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more	GPathogenic/Likely pathogenic
Select item 431070	NM_182641.4(BPTF):c.5392G>A (p.Ala1798Thr)	BPTF (A1924T +1 more)	Single nucleotide variant (missense variant)	Secondary microcephaly +2 more	GLikely pathogenic
Select item 431069	NM_182641.4(BPTF):c.2982_2992+1del	BPTF	Deletion (splice donor variant)	Secondary microcephaly +2 more	GPathogenic
Select item 431068	Single allele	BPTF	Deletion	Secondary microcephaly +2 more	GPathogenic
Select item 431067	Single allele	NOL11, BPTF	Deletion	Secondary microcephaly +2 more	GPathogenic
Select item 431066	NM_182641.4(BPTF):c.8701A>T (p.Lys2901Ter)	BPTF (K2884* +1 more)	Single nucleotide variant (nonsense)	Secondary microcephaly +3 more	GPathogenic
Select item 431065	NM_182641.4(BPTF):c.4838_4839del (p.Val1613fs)	BPTF (V1739fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 431064	NM_182641.4(BPTF):c.2482dup (p.Glu828fs)	BPTF (E828fs +1 more)	Duplication (frameshift variant)	Secondary microcephaly +3 more	GPathogenic
Select item 373964	NM_001271.4(CHD2):c.949A>G (p.Ile317Val)	CHD2 (I317V)	Single nucleotide variant (missense variant)	Growth delay +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)	Growth delay +10 more	GLikely benign
Select item 68638	NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	LOC102724058, SCN1A (V1601I +5 more)	Single nucleotide variant (missense variant +1 more)	Cerebral visual impairment +13 more	GConflicting classifications of pathogenicity
Select item 52953	NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	KCNQ1 (K362R +2 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +22 more	GPathogenic/Likely pathogenic

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Items: 25