ClinVar for Gene (Select 6747) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	AADAC, AADACL2 +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2310149	NM_007107.5(SSR3):c.77C>T (p.Ala26Val)	LOC129937795, SSR3 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262981	NM_007107.5(SSR3):c.460T>C (p.Phe154Leu)	SSR3 (F167L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224856	NM_007107.5(SSR3):c.409T>G (p.Ser137Ala)	SSR3 (S150A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	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 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	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 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
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

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Links from Gene

Items: 40