"Clinical Genetics, Academic Medical Center"[submitter] AND "ABCC6"[ge - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433357	NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign/Likely benign
Select item 433396	NM_001171.6(ABCC6):c.4208+9G>A	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign
Select item 1328080	NM_001171.6(ABCC6):c.4193G>A (p.Arg1398Gln)	ABCC6 (R1284Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1026638	NM_001171.6(ABCC6):c.4105G>A (p.Glu1369Lys)	ABCC6 (E1255K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284660	NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GLikely benign
Select item 6570	NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)	ABCC6 (R1268Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign
Select item 281169	NM_001171.6(ABCC6):c.3507-3C>T	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +5 more	GBenign/Likely benign
Select item 6559	NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	ABCC6 (R1141* +1 more)	Single nucleotide variant (nonsense)	ABCC6-related condition +8 more	GPathogenic
Select item 679625	NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)	ABCC6 (L1097I +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +3 more	GBenign/Likely benign
Select item 433305	NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)	ABCC6 (R1064W +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	GBenign/Likely benign
Select item 713368	NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 377414	NM_001171.6(ABCC6):c.2904G>A (p.Leu968=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 433293	NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)	ABCC6 (L946I +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	GBenign/Likely benign
Select item 6560	NM_001171.6(ABCC6):c.2787+1G>T	ABCC6	Single nucleotide variant (splice donor variant)	ABCC6-related condition +4 more	GPathogenic/Likely pathogenic
Select item 710345	NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	ABCC6-related condition +4 more	GBenign/Likely benign
Select item 715676	NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)	ABCC6 (E789Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign/Likely benign
Select item 433264	NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val)	ABCC6 (I742V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 433262	NM_001171.6(ABCC6):c.2175A>T (p.Val725=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 433261	NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys)	ABCC6 (R724K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 790702	NM_001171.6(ABCC6):c.2067C>T (p.Ile689=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GBenign/Likely benign
Select item 1284531	NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys)	ABCC6 (Q541K +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste +3 more	GUncertain significance
Select item 433383	NM_001171.6(ABCC6):c.1338+20C>G	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign
Select item 433382	NM_001171.6(ABCC6):c.1338+7C>G	ABCC6	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign
Select item 624099	NM_001171.6(ABCC6):c.1284C>T (p.Asn428=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 384808	NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 379216	NM_001171.6(ABCC6):c.1248C>T (p.Asp416=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Arterial calcification, generalized, of infancy, 2 +3 more	GBenign/Likely benign
Select item 143120	NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)	ABCC6 (R265G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 379223	NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn)	ABCC6 (D163N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GBenign
Select item 433286	NM_001171.6(ABCC6):c.346-6G>A	ABCC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 493176	NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln)	ABCC6 (R60Q)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity

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Items: 30