ClinVar for Gene (Select 4135) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293142	NM_033063.2(MAP6):c.271G>A (p.Gly91Ser)	MAP6 (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293141	NM_033063.2(MAP6):c.2065G>A (p.Glu689Lys)	LOC105369391, MAP6 (E689K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293140	NM_033063.2(MAP6):c.668G>A (p.Gly223Asp)	MAP6 (G223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123136	NM_033063.2(MAP6):c.416C>A (p.Pro139Gln)	MAP6 (P139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123135	NM_033063.2(MAP6):c.2032G>C (p.Gly678Arg)	LOC105369391, MAP6 (G678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123134	NM_033063.2(MAP6):c.1238C>T (p.Ala413Val)	MAP6 (A413V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123133	NM_033063.2(MAP6):c.1055A>G (p.Asn352Ser)	MAP6 (N352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642160	NM_033063.2(MAP6):c.168G>C (p.Ala56=)	MAP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642159	NM_033063.2(MAP6):c.1230A>G (p.Lys410=)	MAP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569970	NM_033063.2(MAP6):c.241C>G (p.Arg81Gly)	MAP6 (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557690	NM_033063.2(MAP6):c.2077G>A (p.Val693Ile)	LOC105369391, MAP6 (V693I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545045	NM_033063.2(MAP6):c.568A>T (p.Ile190Phe)	MAP6 (I190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529132	NM_033063.2(MAP6):c.1940C>T (p.Pro647Leu)	LOC105369391, MAP6 (P647L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517875	NM_033063.2(MAP6):c.1582G>A (p.Asp528Asn)	LOC105369391, MAP6 (D528N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482625	NM_033063.2(MAP6):c.284C>G (p.Pro95Arg)	MAP6 (P95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480485	NM_033063.2(MAP6):c.350C>G (p.Ala117Gly)	MAP6 (A117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468848	NM_033063.2(MAP6):c.1133G>A (p.Ser378Asn)	MAP6 (S378N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401516	NM_033063.2(MAP6):c.253C>T (p.Pro85Ser)	MAP6 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389619	NM_033063.2(MAP6):c.541T>G (p.Ser181Ala)	MAP6 (S181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379217	NM_033063.2(MAP6):c.140C>A (p.Pro47Gln)	MAP6 (P47Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374515	NM_033063.2(MAP6):c.281A>C (p.Glu94Ala)	MAP6 (E94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355287	NM_033063.2(MAP6):c.1798T>C (p.Ser600Pro)	LOC105369391, MAP6 (S600P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325872	NM_033063.2(MAP6):c.332G>T (p.Gly111Val)	MAP6 (G111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309798	NM_033063.2(MAP6):c.1408C>A (p.Leu470Ile)	LOC105369391, MAP6 (L470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302565	NM_033063.2(MAP6):c.263G>A (p.Gly88Glu)	MAP6 (G88E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273147	NM_033063.2(MAP6):c.922T>C (p.Trp308Arg)	MAP6 (W308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266893	NM_033063.2(MAP6):c.562G>A (p.Ala188Thr)	MAP6 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263956	NM_033063.2(MAP6):c.2002C>A (p.Pro668Thr)	LOC105369391, MAP6 (P668T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261507	NM_033063.2(MAP6):c.445C>G (p.Pro149Ala)	MAP6 (P149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259371	NM_033063.2(MAP6):c.410G>C (p.Cys137Ser)	MAP6 (C137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250506	NM_033063.2(MAP6):c.329C>G (p.Ser110Cys)	MAP6 (S110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231568	NM_033063.2(MAP6):c.761T>G (p.Leu254Arg)	MAP6 (L254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527651	GRCh37/hg19 11q13.4-13.5(chr11:74839014-75366449)	ARRB1, GDPD5 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1289911	NM_033063.2(MAP6):c.1749T>C (p.Asp583=)	LOC105369391, MAP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1281963	NC_000011.10:g.75586839C>T	LOC105369391, MAP6	Single nucleotide variant	not provided	GBenign
Select item 1270127	NM_033063.2(MAP6):c.1120-124C>T	MAP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228318	NC_000011.10:g.75586759C>A	LOC105369391, MAP6	Single nucleotide variant	not provided	GBenign
Select item 1223129	NM_033063.2(MAP6):c.741T>G (p.Ile247Met)	MAP6 (I247M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 782216	NM_033063.2(MAP6):c.1248G>A (p.Pro416=)	MAP6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 778541	NM_033063.2(MAP6):c.2340G>A (p.Lys780=)	LOC105369391, MAP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 252761	NM_033063.2(MAP6):c.2219G>A (p.Arg740His)	LOC105369391, MAP6 (R740H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 49