ClinVar for MedGen (Select 1708579) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254966	NM_000844.4(GRM7):c.342C>A (p.Tyr114Ter)	GRM7 (Y114*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 3251940	NM_000844.4(GRM7):c.253G>T (p.Ala85Ser)	GRM7 (A85S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 2432310	NM_000844.4(GRM7):c.760G>C (p.Val254Leu)	GRM7 (V254L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 1802142	NM_000844.4(GRM7):c.1247A>G (p.Tyr416Cys)	GRM7 (Y416C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 1676787	NM_000844.4(GRM7):c.2496T>G (p.Ser832Arg)	GRM7 (S832R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GLikely pathogenic
Select item 1401282	NM_000844.4(GRM7):c.2308T>A (p.Cys770Ser)	GRM7 (C770S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 972739	NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter)	GRM7 (R659*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 972738	NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys)	GRM7 (E891K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 972737	NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln)	GRM7 (R658Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +1 more	GUncertain significance
Select item 972736	NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter)	GRM7 (W586*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 242901	NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)	GRM7 (T675K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more	GPathogenic/Likely pathogenic
Select item 242900	NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)	GRM7 (R658W)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic/Likely 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