ClinVar for Gene (Select 9587) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292528	NM_014628.3(MAD2L1BP):c.226C>G (p.Leu76Val)	MAD2L1BP (L108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292527	NM_014628.3(MAD2L1BP):c.341G>A (p.Arg114Gln)	MAD2L1BP (R146Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292526	NM_014628.3(MAD2L1BP):c.343G>A (p.Ala115Thr)	MAD2L1BP (A115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292525	NM_014628.3(MAD2L1BP):c.566G>A (p.Arg189His)	MAD2L1BP (R189H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121969	NM_014628.3(MAD2L1BP):c.817C>T (p.Arg273Cys)	MAD2L1BP (R273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121968	NM_014628.3(MAD2L1BP):c.800T>C (p.Val267Ala)	MAD2L1BP (V267A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121967	NM_014628.3(MAD2L1BP):c.709C>T (p.Arg237Trp)	MAD2L1BP (R269W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518234	NM_014628.3(MAD2L1BP):c.731C>T (p.Thr244Ile)	MAD2L1BP (T276I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2395161	NM_014628.3(MAD2L1BP):c.613G>T (p.Ala205Ser)	MAD2L1BP (A205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391000	NM_014628.3(MAD2L1BP):c.124C>A (p.Pro42Thr)	MAD2L1BP (P74T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383294	NM_014628.3(MAD2L1BP):c.340C>T (p.Arg114Trp)	MAD2L1BP (R146W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345805	NM_014628.3(MAD2L1BP):c.443C>T (p.Pro148Leu)	MAD2L1BP (P180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264133	NM_014628.3(MAD2L1BP):c.818G>A (p.Arg273His)	MAD2L1BP (R273H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262934	NM_014628.3(MAD2L1BP):c.182C>T (p.Pro61Leu)	MAD2L1BP (P61L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254355	NM_014628.3(MAD2L1BP):c.545G>A (p.Ser182Asn)	MAD2L1BP (S214N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238573	NM_014628.3(MAD2L1BP):c.293A>G (p.Tyr98Cys)	MAD2L1BP (Y130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 713859	NM_014628.3(MAD2L1BP):c.590C>T (p.Ala197Val)	MAD2L1BP (A197V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 149124	GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3	GTPBP2, LOC121132685 +27 more	Copy number gain	See cases	GUncertain significance
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30