Related gene-specific medical variations for Gene (Select 11276) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324000	NM_007247.6(SYNRG):c.2984C>T (p.Thr995Met)	LOC126862546, SYNRG (T789M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172920	NM_007247.6(SYNRG):c.2963T>C (p.Phe988Ser)	LOC126862546, SYNRG (F782S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172919	NM_007247.6(SYNRG):c.2893G>C (p.Ala965Pro)	LOC126862546, SYNRG (A1066P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172918	NM_007247.6(SYNRG):c.2866C>T (p.Leu956Phe)	LOC126862546, SYNRG (L750F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172917	NM_007247.6(SYNRG):c.2768C>T (p.Thr923Ile)	LOC126862546, SYNRG (T717I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172916	NM_007247.6(SYNRG):c.2728C>A (p.Pro910Thr)	LOC126862546, SYNRG (P831T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054010	NM_007247.6(SYNRG):c.3063G>A (p.Ser1021=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GLikely benign
Select item 3052889	NM_007247.6(SYNRG):c.2960A>C (p.Asp987Ala)	LOC126862546, SYNRG (D1088A +5 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	GLikely benign
Select item 3045164	NM_007247.6(SYNRG):c.2989G>C (p.Glu997Gln)	LOC126862546, SYNRG (E1098Q +5 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	GBenign
Select item 3041461	NM_007247.6(SYNRG):c.2886A>C (p.Pro962=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GBenign
Select item 2473164	NM_007247.6(SYNRG):c.2663T>C (p.Val888Ala)	LOC126862546, SYNRG (V810A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380431	NM_007247.6(SYNRG):c.2813A>C (p.Asn938Thr)	LOC126862546, SYNRG (N732T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307077	NM_007247.6(SYNRG):c.3182C>G (p.Thr1061Ser)	LOC126862546, SYNRG (T938S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301429	NM_007247.6(SYNRG):c.3018C>A (p.Ser1006Arg)	LOC126862546, SYNRG (S1107R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278751	NM_007247.6(SYNRG):c.2909C>T (p.Thr970Met)	LOC126862546, SYNRG (T847M +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254988	NM_007247.6(SYNRG):c.2758C>T (p.Pro920Ser)	LOC126862546, SYNRG (P920S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1807920	GRCh37/hg19 17q12(chr17:35909473-35932571)x1	SYNRG	Copy number loss	not provided	GUncertain significance
Select item 1342538	NM_007247.6(SYNRG):c.635C>T (p.Thr212Ile)	SYNRG (T212I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1342537	NM_007247.6(SYNRG):c.2905G>A (p.Asp969Asn)	LOC126862546, SYNRG (D763N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342536	NM_007247.6(SYNRG):c.811A>G (p.Ile271Val)	SYNRG (I271V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 872717	NM_007247.6(SYNRG):c.2813A>G (p.Asn938Ser)	LOC126862546, SYNRG (N732S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872716	NM_007247.6(SYNRG):c.3813+5G>A	SYNRG	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Links from Gene

Items: 22