LOC130006336[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 642638	NC_000011.10:g.(?_72293347)_(72434494_?)del	CLPB, LOC124500684 +9 more	Deletion	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 2874792	NM_001258392.3(CLPB):c.315C>T (p.Asn105=)	CLPB, LOC130006336 (R25W)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1321644	NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys)	CLPB, LOC130006336 (E24Q +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2194707	NM_001258392.3(CLPB):c.303G>A (p.Gln101=)	CLPB, LOC130006336 (G21R)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 955414	NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)	CLPB, LOC130006336 (G100A +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2700131	NM_001258392.3(CLPB):c.282C>T (p.Pro94=)	CLPB, LOC130006336 (R14*)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2042071	NM_001258392.3(CLPB):c.278dup (p.Pro94fs)	CLPB, LOC130006336 (P94fs +1 more)	Duplication (frameshift variant)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 2994081	NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)	CLPB, LOC130006336 (W12C +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2983435	NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)	CLPB, LOC130006336 (W12* +1 more)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2852121	NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)	CLPB, LOC130006336 (L91F +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2719672	NM_001258392.3(CLPB):c.270C>T (p.Arg90=)	CLPB, LOC130006336 (P10S)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1440974	NM_001258392.3(CLPB):c.269G>A (p.Arg90His)	CLPB, LOC130006336 (R90H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1360509	NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu)	CLPB, LOC130006336 (G89E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1396322	NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del)	CLPB, LOC130006336	Deletion (inframe_deletion)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 798022	NM_001258392.3(CLPB):c.261T>C (p.Thr87=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 572176	NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile)	CLPB, LOC130006336 (T87I)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1029982	NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)	CLPB, LOC130006336 (H6L +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1410578	NM_001258392.3(CLPB):c.257C>T (p.Ala86Val)	CLPB, LOC130006336 (A86V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 848832	NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)	CLPB, LOC130006336 (A85V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2778476	NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)	CLPB, LOC130006336 (A85T +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 506813	NM_001258392.3(CLPB):c.249C>T (p.Leu83=)	CLPB, LOC130006336 (R3C)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
Select item 651304	NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)	LOC130006336, CLPB (L83F +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GConflicting classifications of pathogenicity
Select item 1093040	NM_001258392.3(CLPB):c.246C>T (p.Cys82=)	CLPB, LOC130006336 (P2S)	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1516050	NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg)	CLPB, LOC130006336 (K81R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1700724	NM_001258392.3(CLPB):c.233T>G (p.Phe78Cys)	LOC130006336, CLPB (F78C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2733125	NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)	CLPB, LOC130006336 (R77P)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 3003580	NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)	LOC130006336, CLPB (R77G)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1051521	NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)	CLPB, LOC130006336 (R77S)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 1172515	NM_001258392.3(CLPB):c.221dup (p.Gly76fs)	CLPB, LOC130006336 (G76fs)	Duplication (frameshift variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely pathogenic
Select item 2876021	NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)	CLPB, LOC130006336 (R73S)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 644249	NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)	CLPB, LOC130006336 (G72R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +2 more	GUncertain significance
Select item 1533357	NM_001258392.3(CLPB):c.213G>A (p.Gly71=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2881892	NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)	CLPB, LOC130006336 (G71E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 784587	NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)	CLPB, LOC130006336 (G71A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GLikely benign
Select item 2642120	NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)	CLPB, LOC130006336 (G71W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1718364	NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)	CLPB, LOC130006336 (T70N)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1061024	NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)	CLPB, LOC130006336 (A68E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2141771	NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)	CLPB, LOC130006336 (A68T)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2533328	NM_001258392.3(CLPB):c.194G>A (p.Gly65Glu)	CLPB, LOC130006336 (G65E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2726233	NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)	CLPB, LOC130006336 (G65R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1380887	NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg)	CLPB, LOC130006336 (G65R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 856343	NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)	CLPB, LOC130006336 (G65*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria, type VIIB	GPathogenic
Select item 1060390	NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)	CLPB, LOC130006336 (F63L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1969322	NM_001258392.3(CLPB):c.183C>T (p.Ala61=)	LOC130006336, CLPB	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1059570	NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)	CLPB, LOC130006336 (A61V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GUncertain significance
Select item 2136959	NM_001258392.3(CLPB):c.174A>G (p.Thr58=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 716318	NM_001258392.3(CLPB):c.159G>A (p.Gly53=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2809514	NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)	CLPB, LOC130006336 (G53A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2790452	NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)	CLPB, LOC130006336 (G53W)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2011067	NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)	CLPB, LOC130006336 (G53R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2006270	NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)	CLPB, LOC130006336 (V50L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 512085	NM_001258392.3(CLPB):c.144G>A (p.Leu48=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 952179	NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)	CLPB, LOC130006336 (L48V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 681464	NM_001258392.3(CLPB):c.135G>T (p.Pro45=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GBenign/Likely benign
Select item 2330755	NM_001258392.3(CLPB):c.134C>A (p.Pro45Gln)	CLPB, LOC130006336 (P45Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1963593	NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)	CLPB, LOC130006336 (E44A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 841085	NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)	CLPB, LOC130006336 (E44K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 794279	NM_001258392.3(CLPB):c.114T>C (p.Thr38=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1479443	NM_001258392.3(CLPB):c.109G>C (p.Val37Leu)	CLPB, LOC130006336 (V37L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1088185	NM_001258392.3(CLPB):c.105G>T (p.Arg35=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2198683	NM_001258392.3(CLPB):c.103C>A (p.Arg35=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2006521	NM_001258392.3(CLPB):c.99C>G (p.Ser33=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 1583176	NM_001258392.3(CLPB):c.99C>A (p.Ser33=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2804908	NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)	CLPB, LOC130006336 (A32V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2133248	NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)	CLPB, LOC130006336 (G30R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1990563	NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)	CLPB, LOC130006336 (R27W)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1365373	NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala)	CLPB, LOC130006336 (T25A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1122111	NM_001258392.3(CLPB):c.58C>T (p.Leu20=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 794813	NM_001258392.3(CLPB):c.57G>C (p.Arg19=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 946252	NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)	CLPB, LOC130006336 (R19Q)	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 788112	NM_001258392.3(CLPB):c.51C>A (p.Leu17=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB +1 more	GBenign/Likely benign
Select item 2171248	NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)	CLPB, LOC130006336 (L17R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1440488	NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu)	CLPB, LOC130006336 (P14L)	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1100126	NM_001258392.3(CLPB):c.39G>A (p.Ala13=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 968086	NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)	CLPB, LOC130006336 (A13V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2129341	NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)	CLPB, LOC130006336 (L12V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2081229	NM_001258392.3(CLPB):c.34C>T (p.Leu12=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 3239231	NM_001258392.3(CLPB):c.33A>G (p.Ala11=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2116266	NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)	CLPB, LOC130006336 (V6E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2744150	NM_001258392.3(CLPB):c.9G>A (p.Gly3=)	CLPB, LOC130006336	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria, type VIIB	GLikely benign
Select item 2662612	NM_001258392.3(CLPB):c.4C>G (p.Leu2Val)	CLPB, LOC130006336 (L2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 855897	NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)	CLPB, LOC130006336 (M1T)	Single nucleotide variant (missense variant +2 more)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2642121	NM_001258392.3(CLPB):c.-3A>G	CLPB, LOC130006336	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 517848	NM_001258392.3(CLPB):c.-26A>T	CLPB, LOC130006336	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1195729	NM_001258392.3(CLPB):c.-34C>T	CLPB, LOC130006336	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1203813	NC_000011.10:g.72434591C>A	CLPB, LOC130006336	Single nucleotide variant	not provided	GLikely benign

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Items: 88