Related gene-specific medical variations for Gene (Select 368) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243621	NC_000016.9:g.(?_16248465)_(16248908_?)del	ABCC6	Deletion	not provided	GPathogenic
Select item 3243620	NC_000016.9:g.(?_16251500)_(16257069_?)del	ABCC6	Deletion	not provided	GPathogenic
Select item 3243618	NC_000016.9:g.(?_16267121)_(16267281_?)del	ABCC6	Deletion	not provided	GPathogenic
Select item 3243617	NC_000016.9:g.(?_16278796)_(16278911_?)del	ABCC6	Deletion	not provided	GPathogenic
Select item 3065519	NM_001171.6(ABCC6):c.3598G>A (p.Gly1200Ser)	ABCC6 (G1086S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 3063448	GRCh37/hg19 16p13.11(chr16:16247252-16257679)x1	ABCC6	Copy number loss	not specified	GUncertain significance
Select item 3063407	GRCh37/hg19 16p13.11(chr16:16247252-16258179)x1	ABCC6	Copy number loss	not specified	GUncertain significance
Select item 3063406	GRCh37/hg19 16p13.11(chr16:16247252-16262036)x1	ABCC6	Copy number loss	not specified	GPathogenic
Select item 3022821	NM_001171.6(ABCC6):c.4403+17G>A	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803250	NM_001171.6(ABCC6):c.4383C>T (p.Arg1461=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787803	NM_001171.6(ABCC6):c.4371C>T (p.Ala1457=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2433853	NM_001171.6(ABCC6):c.3883-2_3883-1del	ABCC6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2137787	NM_001171.6(ABCC6):c.4376G>A (p.Arg1459His)	ABCC6, LOC125146421 (R1345H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050279	NM_001171.6(ABCC6):c.4402C>G (p.Arg1468Gly)	ABCC6, LOC125146421 (R1468G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2019997	NM_001171.6(ABCC6):c.4403+7C>A	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996049	NM_001171.6(ABCC6):c.4367T>C (p.Ile1456Thr)	ABCC6, LOC125146421 (I1456T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990355	NM_001171.6(ABCC6):c.4371C>G (p.Ala1457=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924191	NM_001171.6(ABCC6):c.4403+20C>G	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923984	NM_001171.6(ABCC6):c.4402C>T (p.Arg1468Trp)	ABCC6, LOC125146421 (R1354W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679599	NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu)	ABCC6 (D1283E +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudoxanthoma elasticum, forme fruste	GUncertain significance
Select item 1659863	NM_001171.6(ABCC6):c.4403+9C>T	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652239	NM_001171.6(ABCC6):c.4377C>G (p.Arg1459=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1596072	NM_001171.6(ABCC6):c.4374C>T (p.His1458=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474813	NM_001171.6(ABCC6):c.4387G>A (p.Val1463Met)	ABCC6, LOC125146421 (V1463M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469680	NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His)	ABCC6, LOC125146421 (R1347H +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +4 more	GUncertain significance
Select item 1449047	NM_001171.6(ABCC6):c.4403G>A (p.Arg1468Gln)	ABCC6, LOC125146421 (R1468Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1435267	NM_001171.6(ABCC6):c.4380_4381delinsAA (p.Arg1461Ser)	LOC125146421, ABCC6 (R1347S +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1400391	NM_001171.6(ABCC6):c.4391T>C (p.Met1464Thr)	ABCC6, LOC125146421 (M1350T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396493	NM_001171.6(ABCC6):c.4403+6G>T	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1363795	NM_001171.6(ABCC6):c.4403+1G>C	ABCC6, LOC125146421	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1323818	NM_001171.6(ABCC6):c.1850C>G (p.Ser617Ter)	ABCC6 (S503* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1323817	NM_001171.6(ABCC6):c.890_905del (p.Arg297fs)	ABCC6 (R183fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1323816	NM_001171.6(ABCC6):c.2237_2238delinsGGTGCAGAGTTTG (p.Ile746fs)	ABCC6 (I632fs +1 more)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1322283	NM_001171.6(ABCC6):c.1799_1805dup (p.Thr603fs)	ABCC6 (T489fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 930527	NM_001171.6(ABCC6):c.2836del (p.Leu946fs)	ABCC6 (L946fs +1 more)	Deletion (frameshift variant +1 more)	Arterial calcification, generalized, of infancy, 2	GLikely pathogenic
Select item 688963	GRCh37/hg19 16p13.11(chr16:16247252-16262036)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 688630	GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 688362	GRCh37/hg19 16p13.11(chr16:16247470-16262036)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 687897	GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 687331	GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 687229	GRCh37/hg19 16p13.11(chr16:16248154-16262036)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 687192	GRCh37/hg19 16p13.11(chr16:16247252-16258394)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 686810	GRCh37/hg19 16p13.11(chr16:16258393-16295900)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 686253	GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 685679	GRCh37/hg19 16p13.11(chr16:16247818-16262005)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 685429	GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 685198	GRCh37/hg19 16p13.11(chr16:16247470-16262036)x1	ABCC6	Copy number loss	not provided	GPathogenic
Select item 591692	NM_001171.6(ABCC6):c.1765_1766insCTGC (p.His589fs)	ABCC6 (H475fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591526	NM_001171.6(ABCC6):c.4249C>G (p.Leu1417Val)	ABCC6 (L1417V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 433516	NM_001171.6(ABCC6):c.4403+1G>T	ABCC6, LOC125146421	Single nucleotide variant (splice donor variant)	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433475	NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys)	ABCC6, LOC125146421 (R1461C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +3 more	GUncertain significance
Select item 433451	NM_001171.5(ABCC6):c.3307-?_3735+?del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433440	NM_001171.5(ABCC6):c.3307-?_3882+?del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433404	NM_001171.5(ABCC6):c.2996-?_4208+?del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 433397	NM_001171.6(ABCC6):c.4403+11C>G	ABCC6, LOC125146421	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 433388	NM_001171.5(ABCC6):c.1868-?_1943+?del	ABCC6	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GLikely pathogenic
Select item 433363	NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=)	ABCC6, LOC125146421	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum	GUncertain significance
Select item 395035	GRCh37/hg19 16p13.11(chr16:16300012-16320879)x1	ABCC6	Copy number loss	See cases	GLikely benign
Select item 394367	GRCh37/hg19 16p13.11(chr16:16300012-16315139)x3	ABCC6	Copy number gain	See cases	GBenign
Select item 394136	GRCh37/hg19 16p13.11(chr16:16245334-16259284)x1	ABCC6	Copy number loss	See cases	GLikely benign
Select item 152597	GRCh38/hg38 16p13.11(chr16:16151468-16165427)x1	ABCC6	Copy number loss	See cases	GBenign
Select item 6577	NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)	ABCC6, LOC125146421 (R1459C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance

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Links from Gene

Items: 62