SYNGR2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 3323946	NM_004710.7(SYNGR2):c.25G>A (p.Ala9Thr)	LOC130061806, SYNGR2 (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514070	NM_004710.7(SYNGR2):c.26C>G (p.Ala9Gly)	LOC130061806, SYNGR2 (A9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549336	NM_004710.7(SYNGR2):c.88G>A (p.Ala30Thr)	LOC130061806, SYNGR2 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222532	NM_004710.7(SYNGR2):c.88G>T (p.Ala30Ser)	LOC130061806, SYNGR2 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172772	NM_004710.7(SYNGR2):c.106G>A (p.Ala36Thr)	SYNGR2 (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310298	NM_004710.7(SYNGR2):c.178G>A (p.Val60Met)	SYNGR2 (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172773	NM_004710.7(SYNGR2):c.191A>G (p.Asn64Ser)	SYNGR2 (N64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489479	NM_004710.7(SYNGR2):c.265G>A (p.Asp89Asn)	SYNGR2 (D89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172774	NM_004710.7(SYNGR2):c.274T>C (p.Phe92Leu)	SYNGR2 (F92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172775	NM_004710.7(SYNGR2):c.292G>A (p.Ala98Thr)	SYNGR2 (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455359	NM_004710.7(SYNGR2):c.331T>C (p.Phe111Leu)	SYNGR2 (F111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323945	NM_004710.7(SYNGR2):c.409G>A (p.Asp137Asn)	SYNGR2 (D137N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545058	NM_004710.7(SYNGR2):c.412G>A (p.Val138Met)	SYNGR2 (V138M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482029	NM_004710.7(SYNGR2):c.422G>A (p.Gly141Glu)	SYNGR2 (G141E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406304	NM_004710.7(SYNGR2):c.635C>T (p.Ala212Val)	LOC130061808, SYNGR2 (R242W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29