SSR3[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 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 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 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 1989989	NM_007107.5(SSR3):c.492-17C>T	SSR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 2654253	NM_007107.5(SSR3):c.387T>A (p.Ala129=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788520	NM_007107.5(SSR3):c.378T>C (p.Asn126=)	SSR3	Single nucleotide variant (synonymous 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 1601159	NM_007107.5(SSR3):c.359+52G>A	SSR3	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1632898	NM_007107.5(SSR3):c.288T>C (p.Val96=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1537157	NM_007107.5(SSR3):c.279G>A (p.Glu93=)	SSR3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2110240	NM_007107.5(SSR3):c.240G>A (p.Val80=)	SSR3	Single nucleotide variant (synonymous 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 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 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 2310149	NM_007107.5(SSR3):c.77C>T (p.Ala26Val)	LOC129937795, SSR3 (A26V)	Single nucleotide variant (missense variant)	not specified	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 3246972	NC_000003.11:g.(?_154834637)_(156272878_?)del	C3orf33, GMPS +5 more	Deletion	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 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 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 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

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Items: 44