MAP6D1[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 149403	GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3	ATP11B, B3GNT5 +55 more	Copy number gain	See cases	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 146251	GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3	ABCC5, ABCC5-AS1 +41 more	Copy number gain	See cases	GLikely benign
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance
Select item 3123139	NM_024871.4(MAP6D1):c.583C>T (p.Arg195Trp)	MAP6D1 (R195W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052530	NM_024871.4(MAP6D1):c.522C>T (p.Val174=)	MAP6D1	Single nucleotide variant (synonymous variant)	MAP6D1-related disorder	GLikely benign
Select item 2613160	NM_024871.4(MAP6D1):c.422C>A (p.Thr141Asn)	MAP6D1 (T141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459345	NM_024871.4(MAP6D1):c.413A>G (p.Gln138Arg)	MAP6D1 (Q138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406929	NM_024871.4(MAP6D1):c.368C>T (p.Ala123Val)	LOC129938031, MAP6D1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293143	NM_024871.4(MAP6D1):c.361G>A (p.Gly121Ser)	LOC129938031, MAP6D1 (G121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470280	NM_024871.4(MAP6D1):c.356C>G (p.Pro119Arg)	LOC129938031, MAP6D1 (P119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401202	NM_024871.4(MAP6D1):c.343G>A (p.Val115Ile)	LOC129938031, MAP6D1 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302761	NM_024871.4(MAP6D1):c.328C>A (p.Pro110Thr)	LOC129938031, MAP6D1 (P110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123137	NM_024871.4(MAP6D1):c.305C>T (p.Ala102Val)	LOC129938031, MAP6D1 (A102V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3353006	NM_024871.4(MAP6D1):c.304G>A (p.Ala102Thr)	LOC129938031, MAP6D1 (A102T)	Single nucleotide variant (missense variant)	MAP6D1-related disorder	GBenign
Select item 3293144	NM_024871.4(MAP6D1):c.268G>A (p.Gly90Arg)	LOC129938031, MAP6D1 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051491	NM_024871.4(MAP6D1):c.261G>A (p.Pro87=)	MAP6D1	Single nucleotide variant (synonymous variant)	MAP6D1-related disorder	GLikely benign
Select item 3035858	NM_024871.4(MAP6D1):c.237C>T (p.Pro79=)	LOC129938032, MAP6D1	Single nucleotide variant (synonymous variant)	MAP6D1-related disorder	GBenign
Select item 2288571	NM_024871.4(MAP6D1):c.169G>T (p.Ala57Ser)	MAP6D1 (A57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403434	NM_024871.4(MAP6D1):c.157C>A (p.Pro53Thr)	MAP6D1 (P53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267484	NM_024871.4(MAP6D1):c.145C>T (p.Arg49Cys)	MAP6D1 (R49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511058	NM_024871.4(MAP6D1):c.131G>A (p.Gly44Asp)	MAP6D1 (G44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479316	NM_024871.4(MAP6D1):c.86C>T (p.Thr29Ile)	LOC129938033, MAP6D1 (T29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487368	NM_024871.4(MAP6D1):c.32G>T (p.Cys11Phe)	LOC129938033, MAP6D1 (C11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986761	GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1	ATP11B, SOX2 +11 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814504	GRCh37/hg19 3q27.1(chr3:183312708-183647820)x3	YEATS2, PARL +3 more	Copy number gain	not provided	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562849	GRCh37/hg19 3q27.1(chr3:183312708-183609026)x3	YEATS2, MAP6D1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 63