ClinVar for MedGen (Select 78606) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237470	NM_000193.4(SHH):c.736G>T (p.Asp246Tyr)	SHH (D246Y)	Single nucleotide variant (missense variant +1 more)	Schizencephaly	GUncertain significance
Select item 2671957	NM_000193.4(SHH):c.44C>A (p.Ser15Ter)	SHH (S15*)	Single nucleotide variant (nonsense)	Schizencephaly	GPathogenic
Select item 1696669	NM_004098.4(EMX2):c.231C>G (p.His77Gln)	EMX2, EMX2OS (H77Q)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
Select item 1362086	NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	SHH (A393G)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, isolated, with coloboma 5 +5 more	GUncertain significance
Select item 1342532	NM_004098.4(EMX2):c.260C>T (p.Pro87Leu)	EMX2, EMX2OS (P87L)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
Select item 931342	NM_000193.4(SHH):c.593G>A (p.Cys198Tyr)	SHH (C198Y)	Single nucleotide variant (missense variant +1 more)	Schizencephaly	GPathogenic
Select item 931003	NM_005413.4(SIX3):c.208T>C (p.Ser70Pro)	SIX3 (S70P)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
Select item 498633	NM_005413.4(SIX3):c.127G>T (p.Gly43Cys)	SIX3 (G43C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 487087	NM_005413.4(SIX3):c.206G>A (p.Gly69Asp)	SIX3 (G69D)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 441532	NM_005413.3(SIX3):c.[206G>A;406_407dup]	SIX3 (V137fs +1 more)	Microsatellite (frameshift variant +1 more)	Holoprosencephaly 2	GPathogenic
Select item 378580	NM_000193.4(SHH):c.300+17G>A	SHH	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 289628	NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	COL4A1 (P3T)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GConflicting classifications of pathogenicity
Select item 195868	NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)	COL4A1 (P530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 65500	NM_005413.4(SIX3):c.576C>T (p.Arg192=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 30382	NM_005413.4(SIX3):c.499G>T (p.Ala167Ser)	SIX3 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30381	NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	SIX3 (G37C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 30380	NM_005413.4(SIX3):c.385G>T (p.Glu129Ter)	SIX3 (E129*)	Single nucleotide variant (nonsense)	Schizencephaly +1 more	GPathogenic
Select item 9522	NM_004098.4(EMX2):c.407G>T (p.Gly136Val)	EMX2 (G136V)	Single nucleotide variant (missense variant +1 more)	Schizencephaly	GPathogenic
Select item 9521	NM_004098.4(EMX2):c.407-4G>T	EMX2	Single nucleotide variant (intron variant)	Schizencephaly	GPathogenic
Select item 9520	NM_004098.4(EMX2):c.407-1G>A	EMX2	Single nucleotide variant (splice acceptor variant +1 more)	Schizencephaly	GPathogenic
Select item 9519	NM_004098.4(EMX2):c.575_576insA (p.Ser192fs)	EMX2 (S192fs)	Insertion (frameshift variant +1 more)	Schizencephaly	GPathogenic
Select item 8887	NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	SHH (G290D)	Single nucleotide variant (missense variant +1 more)	Schizencephaly +5 more	GBenign/Likely benign
Select item 8886	NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	SHH (A383T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance

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Items: 23