ClinVar for MedGen (Select 326648) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627534	NM_004423.4(DVL3):c.367G>A (p.Gly123Arg)	DVL3 (G123R)	Single nucleotide variant (missense variant)	Tented upper lip vermilion +10 more	GLikely pathogenic
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 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 374120	NM_024757.5(EHMT1):c.1647+2T>C	EHMT1 (V519A +1 more)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 374068	NM_000165.5(GJA1):c.440T>C (p.Met147Thr)	GJA1 (M147T)	Single nucleotide variant (missense variant)	Cutaneous finger syndactyly +3 more	GPathogenic
Select item 374054	NM_001083962.2(TCF4):c.500-1G>A	TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome +7 more	GPathogenic
Select item 267869	46;XX;t(6;13)(q21;q32)dn		Translocation	Anteverted nares +9 more	GLikely pathogenic
Select item 267867	46;XX;t(6;15)(q23;q22)dn		Translocation	Cerebral calcification +12 more	GLikely pathogenic
Select item 267854	46;XX;inv(2)(p23q31)dn		Inversion	Microcephaly +8 more	GPathogenic
Select item 267841	46;XX;t(7;13)(p13;q34)dn		Translocation	Muscular dystrophy +18 more	GPathogenic
Select item 267839	46;XY;inv(6)(q22.2q27)dn		Inversion	Hypertelorism +20 more	GPathogenic
Select item 267831	46;Y;inv(X)(q27q28)		Inversion	Macroorchidism +14 more	GUncertain significance
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +28 more	GPathogenic/Likely pathogenic