"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCC6"[ge - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433370	NM_001171.6(ABCC6):c.*38G>A	ABCC6	Single nucleotide variant (3 prime UTR variant +1 more)	ABCC6-related disorder +3 more	GLikely benign
Select item 433367	NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu)	ABCC6 (P1483L +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	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)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GUncertain significance
Select item 2137788	NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)	ABCC6 (E1427K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632391	NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs)	ABCC6 (A1301fs +1 more)	Duplication (frameshift variant +1 more)	ABCC6-related disorder	GUncertain significance
Select item 3057969	NM_001171.6(ABCC6):c.4123C>T (p.Leu1375=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	ABCC6-related disorder	GLikely benign
Select item 1456552	NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)	ABCC6 (G1296D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 716814	NM_001171.6(ABCC6):c.3883-7C>T	ABCC6	Single nucleotide variant (intron variant)	ABCC6-related disorder +1 more	GLikely benign
Select item 433418	NM_001171.6(ABCC6):c.3883-24G>A	ABCC6	Single nucleotide variant (intron variant)	ABCC6-related disorder +4 more	GBenign
Select item 3044879	NM_001171.6(ABCC6):c.3816A>C (p.Leu1272=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	ABCC6-related disorder	GLikely benign
Select item 1451901	NM_001171.6(ABCC6):c.3735+9C>T	ABCC6	Single nucleotide variant (intron variant)	ABCC6-related disorder +1 more	GLikely benign
Select item 1512213	NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln)	ABCC6 (R1121Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1650252	NM_001171.6(ABCC6):c.3684C>T (p.Asn1228=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	ABCC6-related disorder +1 more	GLikely benign
Select item 433319	NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)	ABCC6 (R1221C +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	GPathogenic/Likely pathogenic
Select item 744866	NM_001171.6(ABCC6):c.3644C>T (p.Thr1215Ile)	ABCC6 (T1215I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1441881	NM_001171.6(ABCC6):c.3604G>A (p.Val1202Met)	ABCC6 (V1202M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3044411	NM_001171.6(ABCC6):c.3506+22A>T	ABCC6	Single nucleotide variant (intron variant)	ABCC6-related disorder	GLikely benign
Select item 3032288	NM_001171.6(ABCC6):c.3506+21G>A	ABCC6	Single nucleotide variant (intron variant)	ABCC6-related disorder	GLikely benign
Select item 372295	NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)	ABCC6 (R1164Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GPathogenic/Likely pathogenic
Select item 6559	NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)	ABCC6 (R1141* +1 more)	Single nucleotide variant (nonsense)	See cases +7 more	GPathogenic
Select item 6571	NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)	ABCC6 (R1138W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 6562	NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro)	ABCC6 (R1114P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1559168	NM_001171.6(ABCC6):c.3307-5C>T	ABCC6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1297675	NM_001171.6(ABCC6):c.3168C>T (p.Asp1056=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 773055	NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu)	ABCC6 (Q1022E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1530406	NM_001171.6(ABCC6):c.2982C>T (p.Leu994=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	ABCC6-related disorder +1 more	GBenign/Likely benign
Select item 2629266	NM_001171.6(ABCC6):c.2959C>T (p.Arg987Cys)	ABCC6 (R873C +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder	GUncertain significance
Select item 381637	NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)	ABCC6 (A950T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 433289	NM_001171.6(ABCC6):c.2820T>G (p.Arg940=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 6560	NM_001171.6(ABCC6):c.2787+1G>T	ABCC6	Single nucleotide variant (splice donor variant)	Arterial calcification, generalized, of infancy, 2 +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 disorder +4 more	GBenign/Likely benign
Select item 710346	NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)	ABCC6 (R899C +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +4 more	GLikely benign
Select item 1922328	NM_001171.6(ABCC6):c.2667-9A>G	ABCC6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1510950	NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys)	ABCC6 (E770K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1041760	NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg)	ABCC6 (G754R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1017015	NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln)	ABCC6 (K730Q +1 more)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 2 +4 more	GUncertain significance
Select item 1436749	NM_001171.6(ABCC6):c.2437G>A (p.Ala813Thr)	ABCC6 (A813T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381638	NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)	ABCC6 (R807Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 433273	NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val)	ABCC6 (A781V +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +4 more	GUncertain significance
Select item 3048807	NM_001171.6(ABCC6):c.2256T>C (p.Asn752=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	ABCC6-related disorder	GLikely benign
Select item 1140852	NM_001171.6(ABCC6):c.2248-19G>C	ABCC6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1472910	NM_001171.6(ABCC6):c.2131G>A (p.Val711Met)	ABCC6 (V597M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GUncertain significance
Select item 433256	NM_001171.6(ABCC6):c.1999del (p.Ala667fs)	ABCC6 (A553fs +1 more)	Deletion (frameshift variant +1 more)	ABCC6-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 723186	NM_001171.6(ABCC6):c.1944-8G>A	ABCC6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379606	NM_001171.6(ABCC6):c.1815C>T (p.Leu605=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 1521281	NM_001171.6(ABCC6):c.1799G>A (p.Arg600His)	ABCC6 (R600H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 3043092	NM_001171.6(ABCC6):c.1780-36T>A	ABCC6	Single nucleotide variant (intron variant)	ABCC6-related disorder	GLikely benign
Select item 727891	NM_001171.6(ABCC6):c.1586G>A (p.Gly529Asp)	ABCC6 (G529D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 265018	NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)	ABCC6 (R518Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arterial calcification, generalized, of infancy, 2 +4 more	GPathogenic/Likely pathogenic
Select item 30339	NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)	ABCC6 (R518* +1 more)	Single nucleotide variant (nonsense +1 more)	ABCC6-related disorder +4 more	GPathogenic
Select item 433236	NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)	ABCC6 (V514I +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 433233	NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)	ABCC6 (L495H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1137662	NM_001171.6(ABCC6):c.1368C>T (p.Ile456=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GLikely benign
Select item 1552885	NM_001171.6(ABCC6):c.1302C>T (p.Leu434=)	ABCC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2085646	NM_001171.6(ABCC6):c.1232A>G (p.Asn411Ser)	ABCC6 (N297S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 265017	NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)	ABCC6 (R391G +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 372294	NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)	ABCC6 (Q378* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive inherited pseudoxanthoma elasticum +4 more	GPathogenic
Select item 433220	NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)	ABCC6 (N370D +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2338677	NM_001171.6(ABCC6):c.1057G>A (p.Ala353Thr)	ABCC6 (A353T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 433414	NM_001171.6(ABCC6):c.998+2_998+3del	ABCC6	Deletion (splice donor variant)	ABCC6-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2628399	NM_001171.6(ABCC6):c.982_988delinsTTCCCC (p.Val328fs)	ABCC6 (V214fs +1 more)	Indel (frameshift variant +1 more)	ABCC6-related disorder	GPathogenic
Select item 587583	NM_001171.6(ABCC6):c.790C>T (p.Arg264Trp)	ABCC6 (R264W +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC6-related disorder +1 more	GUncertain significance
Select item 3032435	NM_001171.6(ABCC6):c.219+35A>G	ABCC6 (N85S)	Single nucleotide variant (intron variant +1 more)	ABCC6-related disorder	GUncertain significance
Select item 418938	NM_001171.6(ABCC6):c.196dup (p.Ser66fs)	ABCC6 (S66fs)	Duplication (frameshift variant +2 more)	ABCC6-related disorder +1 more	GPathogenic

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Items: 64