ClinVar for Gene (Select 9145) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323944	NM_004711.5(SYNGR1):c.632G>T (p.Gly211Val)	SYNGR1 (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3172771	NM_004711.5(SYNGR1):c.689C>T (p.Ser230Leu)	SYNGR1 (S230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172770	NM_004711.5(SYNGR1):c.664G>A (p.Asp222Asn)	SYNGR1 (D222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172769	NM_004711.5(SYNGR1):c.617A>T (p.Asp206Val)	SYNGR1 (D206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172768	NM_004711.5(SYNGR1):c.567C>G (p.Ser189Arg)	SYNGR1 (S189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172767	NM_004711.5(SYNGR1):c.561C>A (p.Asp187Glu)	SYNGR1 (D187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172766	NM_004711.5(SYNGR1):c.301C>T (p.Arg101Cys)	SYNGR1 (R101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172765	NM_004711.5(SYNGR1):c.133A>G (p.Asn45Asp)	SYNGR1 (N45D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2653148	NM_004711.5(SYNGR1):c.60G>A (p.Leu20=)	LOC130067460, SYNGR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589628	NM_004711.5(SYNGR1):c.232G>A (p.Ala78Thr)	SYNGR1 (A78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557296	NM_004711.5(SYNGR1):c.331G>T (p.Val111Phe)	SYNGR1 (V111F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544057	NM_004711.5(SYNGR1):c.107C>T (p.Ser36Phe)	SYNGR1 (S37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542318	NM_004711.5(SYNGR1):c.677A>G (p.Gln226Arg)	SYNGR1 (Q226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527737	NM_004711.5(SYNGR1):c.119T>C (p.Phe40Ser)	SYNGR1 (F40S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517253	NM_004711.5(SYNGR1):c.214G>A (p.Val72Met)	SYNGR1 (V72M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507731	NM_004711.5(SYNGR1):c.632G>C (p.Gly211Ala)	SYNGR1 (G211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2383781	NM_004711.5(SYNGR1):c.436G>A (p.Ala146Thr)	SYNGR1 (A146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360370	NM_004711.5(SYNGR1):c.424G>A (p.Glu142Lys)	SYNGR1 (E142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348823	NM_004711.5(SYNGR1):c.571G>C (p.Asp191His)	SYNGR1 (D191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347036	NM_004711.5(SYNGR1):c.220G>A (p.Val74Met)	SYNGR1 (V74M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310205	NM_004711.5(SYNGR1):c.433G>T (p.Asp145Tyr)	SYNGR1 (D145Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293010	NM_004711.5(SYNGR1):c.194C>G (p.Pro65Arg)	SYNGR1 (P65R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244261	NM_004711.5(SYNGR1):c.129C>G (p.Ile43Met)	SYNGR1 (I44M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232477	NM_004711.5(SYNGR1):c.7G>C (p.Gly3Arg)	SYNGR1 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979149	NM_004711.5(SYNGR1):c.607_608insACA (p.Pro202_Thr203insAsn)	SYNGR1	Insertion (inframe_insertion)	Schizophrenia	GBenign
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 161810	NM_004711.5(SYNGR1):c.483+1398C>T	SYNGR1	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 44