MGAT4B[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2460368	NM_014275.5(MGAT4B):c.1642G>A (p.Asp548Asn)	MGAT4B (D548N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125924	NM_014275.5(MGAT4B):c.1487G>A (p.Ser496Asn)	MGAT4B (S496N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404801	NM_014275.5(MGAT4B):c.1474C>T (p.Arg492Trp)	MGAT4B (R492W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384339	NM_014275.5(MGAT4B):c.1420G>A (p.Asp474Asn)	MGAT4B (D489N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268019	NM_014275.5(MGAT4B):c.1355G>A (p.Arg452His)	MGAT4B (R452H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125922	NM_014275.5(MGAT4B):c.1342C>T (p.Arg448Trp)	MGAT4B (R448W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125921	NM_014275.5(MGAT4B):c.1256A>G (p.Tyr419Cys)	MGAT4B (Y434C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125920	NM_014275.5(MGAT4B):c.1178G>A (p.Arg393Gln)	MGAT4B (R393Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346320	NM_014275.5(MGAT4B):c.1177C>T (p.Arg393Trp)	MGAT4B (R393W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125919	NM_014275.5(MGAT4B):c.1033A>G (p.Lys345Glu)	MGAT4B (K345E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231848	NM_014275.5(MGAT4B):c.893C>G (p.Ser298Cys)	MGAT4B (S298C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227229	NM_014275.5(MGAT4B):c.833G>A (p.Ser278Asn)	MGAT4B (S278N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125936	NM_014275.5(MGAT4B):c.815C>T (p.Ala272Val)	MGAT4B (A272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542528	NM_014275.5(MGAT4B):c.811G>A (p.Val271Met)	MGAT4B (V286M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593626	NM_014275.5(MGAT4B):c.658C>G (p.His220Asp)	MGAT4B (H220D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125935	NM_014275.5(MGAT4B):c.655C>T (p.Pro219Ser)	MGAT4B (P219S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656137	NM_014275.5(MGAT4B):c.639G>A (p.Glu213=)	MGAT4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125934	NM_014275.5(MGAT4B):c.578C>T (p.Ser193Leu)	MGAT4B (S193L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604072	NM_014275.5(MGAT4B):c.533C>T (p.Ser178Leu)	MGAT4B (S178L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125931	NM_014275.5(MGAT4B):c.415C>T (p.Arg139Cys)	MGAT4B (R154C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612114	NM_014275.5(MGAT4B):c.406G>A (p.Gly136Ser)	MGAT4B (G136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460307	NM_014275.5(MGAT4B):c.401G>A (p.Arg134His)	MGAT4B (R134H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125929	NM_014275.5(MGAT4B):c.400C>T (p.Arg134Cys)	MGAT4B (R134C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125928	NM_014275.5(MGAT4B):c.361C>T (p.His121Tyr)	MGAT4B (H121Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360892	NM_014275.5(MGAT4B):c.337C>T (p.Pro113Ser)	MGAT4B (P113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125927	NM_014275.5(MGAT4B):c.325G>A (p.Val109Met)	MGAT4B (V109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595705	NM_014275.5(MGAT4B):c.320G>A (p.Arg107Gln)	MGAT4B (R107Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293170	NM_014275.5(MGAT4B):c.309C>G (p.Asn103Lys)	MGAT4B (N118K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323623	NM_014275.5(MGAT4B):c.274C>T (p.Arg92Cys)	MGAT4B (R92C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604947	NM_014275.5(MGAT4B):c.262C>T (p.Arg88Cys)	MGAT4B (R103C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366925	NM_014275.5(MGAT4B):c.247G>A (p.Asp83Asn)	MGAT4B (D83N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125926	NM_014275.5(MGAT4B):c.142G>A (p.Asp48Asn)	LOC129995444, MGAT4B (D48N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245185	NM_014275.5(MGAT4B):c.112G>A (p.Val38Ile)	MGAT4B (V38I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125923	NM_014275.5(MGAT4B):c.103G>C (p.Val35Leu)	MGAT4B (V50L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483238	NM_014275.5(MGAT4B):c.98-52C>G	MGAT4B (R31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349060	NM_014275.5(MGAT4B):c.98-85C>T	MGAT4B (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125932	NM_014275.5(MGAT4B):c.98-92G>T	MGAT4B (R17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125930	NM_014275.5(MGAT4B):c.98-99T>G	MGAT4B (L15W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380674	NM_014275.5(MGAT4B):c.98-130G>A	MGAT4B (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229913	NM_014275.5(MGAT4B):c.58C>T (p.Leu20Phe)	MGAT4B, SQSTM1 (L20F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062874	GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	C5orf60, CANX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684437	GRCh37/hg19 5q35.3(chr5:178991938-179400807)x3	C5orf60, CANX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, C5orf60 +11 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809056	GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527211	GRCh37/hg19 5q35.3(chr5:179217944-179694141)	LTC4S, MAPK9 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527210	GRCh37/hg19 5q35.3(chr5:179082801-179409280)	CANX, CBY3 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527209	GRCh37/hg19 5q35.3(chr5:178860745-179534363)	C5orf60, CANX +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1042381	NC_000005.9:g.(?_178699902)_(179263603_?)dup	CBY3, ADAMTS2 +8 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1023048	NC_000005.9:g.(?_178770758)_(179263603_?)dup	HNRNPH1, MAML1 +8 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 689251	GRCh37/hg19 5q35.3(chr5:179180782-179231973)x3	LTC4S, MAML1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 635776	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	SQSTM1, MRNIP +9 more	Copy number gain	Sensorineural hearing loss disorder	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563135	GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3	CANX, CBY3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 563134	GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 85