"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SMC3"[gene - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159980	NM_005445.4(SMC3):c.255A>G (p.Ser85=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 298764	NM_005445.4(SMC3):c.369C>T (p.Asn123=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 424964	NM_005445.4(SMC3):c.385_393del (p.Gly129_Ser131del)	SMC3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2570775	NM_005445.4(SMC3):c.401A>T (p.Asn134Ile)	SMC3 (N134I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672415	NM_005445.4(SMC3):c.699C>G (p.Asn233Lys)	SMC3 (N233K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026954	NM_005445.4(SMC3):c.877G>A (p.Ala293Thr)	SMC3 (A293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027182	NM_005445.4(SMC3):c.887A>T (p.Gln296Leu)	SMC3 (Q296L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640825	NM_005445.4(SMC3):c.970-8_970-4del	SMC3	Deletion (intron variant)	not provided	GUncertain significance
Select item 2640826	NM_005445.4(SMC3):c.1142G>A (p.Arg381Gln)	SMC3 (R381Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675435	NM_005445.4(SMC3):c.1155T>A (p.Phe385Leu)	SMC3 (F385L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2640827	NM_005445.4(SMC3):c.1433C>G (p.Ala478Gly)	SMC3 (A478G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298769	NM_005445.4(SMC3):c.1671-6A>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3 +2 more	GBenign/Likely benign
Select item 159969	NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)	SMC3	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 2640828	NM_005445.4(SMC3):c.1752G>A (p.Glu584=)	SMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672416	NM_005445.4(SMC3):c.1930C>T (p.Arg644Cys)	SMC3 (R644C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570776	NM_005445.4(SMC3):c.1973T>A (p.Val658Asp)	SMC3 (V658D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 159971	NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)	SMC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 159975	NM_005445.4(SMC3):c.2329T>C (p.Leu777=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 589233	NM_005445.4(SMC3):c.2343G>A (p.Leu781=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2640829	NM_005445.4(SMC3):c.2383A>G (p.Lys795Glu)	SMC3 (K795E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159978	NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 878457	NM_005445.4(SMC3):c.2589A>G (p.Thr863=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1879144	NM_005445.4(SMC3):c.2635C>T (p.Arg879Ter)	SMC3 (R879*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 806567	NM_005445.4(SMC3):c.2736G>C (p.Met912Ile)	SMC3 (M912I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159983	NM_005445.4(SMC3):c.2934G>A (p.Lys978=)	SMC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 586629	NM_005445.4(SMC3):c.2982C>T (p.Ser994=)	SMC3	Single nucleotide variant (synonymous variant)	SMC3-related condition +1 more	GBenign/Likely benign
Select item 1176269	NM_005445.4(SMC3):c.3043A>G (p.Met1015Val)	SMC3 (M1015V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298777	NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile)	SMC3 (V1087I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2640830	NM_005445.4(SMC3):c.3408G>A (p.Pro1136=)	SMC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1176270	NM_005445.4(SMC3):c.3456G>C (p.Gln1152His)	SMC3 (Q1152H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027391	GRCh37/hg19 10q25.2(chr10:112362583-112362760)x1	SMC3	Copy number loss	not provided	GUncertain significance

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Items: 31