"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992348	NM_001042681.2(RERE):c.4396G>C (p.Ala1466Pro)	RERE (A1466P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331515	NM_001042681.2(RERE):c.4218G>A (p.Met1406Ile)	RERE (M1406I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212133	NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp)	RERE (R1146W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GUncertain significance
Select item 2429042	NM_001042681.2(RERE):c.2689T>A (p.Ser897Thr)	RERE (S343T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572360	NM_001042681.2(RERE):c.2669C>T (p.Ala890Val)	RERE (A336V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1334749	NM_001042681.2(RERE):c.1079A>G (p.Asp360Gly)	RERE (D360G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334707	NM_001042681.2(RERE):c.899A>C (p.Gln300Pro)	RERE (Q300P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572232	NM_001042681.2(RERE):c.326-3A>T	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1676519	NM_012102.4(RERE):c.70_73dup (p.Lys25fs)	RERE (K25fs)	Microsatellite	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic