ClinVar for Gene (Select 6747) - ClinVar

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

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246972	NC_000003.11:g.(?_154834637)_(156272878_?)del	C3orf33, GMPS +5 more	Deletion	not provided	GUncertain significance
Select item 3170489	NM_007107.5(SSR3):c.68A>G (p.Asn23Ser)	LOC129937795, SSR3 (N23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170488	NM_007107.5(SSR3):c.157A>G (p.Met53Val)	SSR3 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170487	NM_007107.5(SSR3):c.154C>T (p.His52Tyr)	SSR3 (H52Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2961727	NM_007107.5(SSR3):c.359+9C>T	SSR3 (S123F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959907	NM_007107.5(SSR3):c.442G>A (p.Val148Met)	SSR3 (V148M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889214	NM_007107.5(SSR3):c.441C>T (p.Val147=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869325	NM_007107.5(SSR3):c.146G>A (p.Arg49Gln)	SSR3 (R49Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2839229	NM_007107.5(SSR3):c.348G>C (p.Glu116Asp)	SSR3 (E116D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727568	NM_007107.5(SSR3):c.260+9G>A	SSR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697773	NM_007107.5(SSR3):c.260+4_260+7del	SSR3	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654253	NM_007107.5(SSR3):c.387T>A (p.Ala129=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407912	NM_007107.5(SSR3):c.508A>G (p.Ile170Val)	SSR3 (I118V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2310149	NM_007107.5(SSR3):c.77C>T (p.Ala26Val)	LOC129937795, SSR3 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262981	NM_007107.5(SSR3):c.460T>C (p.Phe154Leu)	SSR3 (F167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224856	NM_007107.5(SSR3):c.409T>G (p.Ser137Ala)	SSR3 (S150A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2171056	NM_007107.5(SSR3):c.329G>A (p.Arg110Lys)	SSR3 (R110K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110240	NM_007107.5(SSR3):c.240G>A (p.Val80=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989989	NM_007107.5(SSR3):c.492-17C>T	SSR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978400	NM_007107.5(SSR3):c.216G>A (p.Leu72=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1632898	NM_007107.5(SSR3):c.288T>C (p.Val96=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601159	NM_007107.5(SSR3):c.359+52G>A	SSR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600159	NM_007107.5(SSR3):c.360-4G>C	SSR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554010	NM_007107.5(SSR3):c.360-14T>C	SSR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537157	NM_007107.5(SSR3):c.279G>A (p.Glu93=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 982233	NM_007107.5(SSR3):c.278_281del (p.Glu93fs)	SSR3 (E41fs +1 more)	Deletion (frameshift variant)	Congenital disorder of glycosylation	GLikely pathogenic
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 814491	GRCh37/hg19 3q25.31(chr3:156194709-156591239)x1	TIPARP, SSR3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 788520	NM_007107.5(SSR3):c.378T>C (p.Asn126=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 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: 44