ClinVar for Gene (Select 56670) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171942	NM_033050.6(SUCNR1):c.398T>C (p.Leu133Pro)	AADACL2-AS1, SUCNR1 (L133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171941	NM_033050.6(SUCNR1):c.353T>C (p.Ile118Thr)	AADACL2-AS1, SUCNR1 (I118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171940	NM_033050.6(SUCNR1):c.226C>T (p.Leu76Phe)	AADACL2-AS1, SUCNR1 (L76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171939	NM_033050.6(SUCNR1):c.224C>T (p.Thr75Ile)	AADACL2-AS1, SUCNR1 (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685936	GRCh37/hg19 3q25.1(chr3:151150422-151674799)x3	AADAC, AADACL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2600691	NM_033050.6(SUCNR1):c.87T>G (p.Phe29Leu)	AADACL2-AS1, SUCNR1 (F29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530319	NM_033050.6(SUCNR1):c.650G>C (p.Arg217Thr)	AADACL2-AS1, SUCNR1 (R217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520172	NM_033050.6(SUCNR1):c.245G>C (p.Ser82Thr)	AADACL2-AS1, SUCNR1 (S82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515811	NM_033050.6(SUCNR1):c.67A>G (p.Lys23Glu)	AADACL2-AS1, SUCNR1 (K23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496543	NM_033050.6(SUCNR1):c.682G>C (p.Glu228Gln)	AADACL2-AS1, SUCNR1 (E228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408735	NM_033050.6(SUCNR1):c.95T>C (p.Ile32Thr)	AADACL2-AS1, SUCNR1 (I32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385538	NM_033050.6(SUCNR1):c.817A>C (p.Ile273Leu)	AADACL2-AS1, SUCNR1 (I273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378212	NM_033050.6(SUCNR1):c.502A>C (p.Asn168His)	AADACL2-AS1, SUCNR1 (N168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335475	NM_033050.6(SUCNR1):c.747C>G (p.His249Gln)	AADACL2-AS1, SUCNR1 (H249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318941	NM_033050.6(SUCNR1):c.168C>A (p.Asn56Lys)	AADACL2-AS1, SUCNR1 (N56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292621	NM_033050.6(SUCNR1):c.367A>C (p.Ile123Leu)	AADACL2-AS1, SUCNR1 (I123L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288935	NM_033050.6(SUCNR1):c.707T>A (p.Met236Lys)	AADACL2-AS1, SUCNR1 (M236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235552	NM_033050.6(SUCNR1):c.531T>A (p.Ser177Arg)	AADACL2-AS1, SUCNR1 (S177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232928	NM_033050.6(SUCNR1):c.346A>G (p.Ile116Val)	AADACL2-AS1, SUCNR1 (I116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527045	GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718)	AADAC, AADACL2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 713065	NM_033050.6(SUCNR1):c.195C>T (p.Leu65=)	AADACL2-AS1, SUCNR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442527	GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	AADAC, AADACL2 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	ANKUB1, AADAC +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	LOC129937775, LOC129937776 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 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

Links from Gene

Items: 38