ClinVar for Gene (Select 79690) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280502	NM_024637.5(GAL3ST4):c.784C>T (p.Pro262Ser)	GAL3ST4 (P262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280501	NM_024637.5(GAL3ST4):c.620G>A (p.Arg207His)	GAL3ST4 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280500	NM_024637.5(GAL3ST4):c.1006C>T (p.His336Tyr)	GAL3ST4 (H336Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280499	NM_024637.5(GAL3ST4):c.1138C>T (p.Arg380Trp)	GAL3ST4 (R380W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280498	NM_024637.5(GAL3ST4):c.1370C>G (p.Pro457Arg)	GAL3ST4 (P457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280497	NM_024637.5(GAL3ST4):c.1199G>A (p.Arg400Gln)	GAL3ST4 (R400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280495	NM_024637.5(GAL3ST4):c.1314A>G (p.Ile438Met)	GAL3ST4 (I438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280494	NM_024637.5(GAL3ST4):c.1229G>C (p.Gly410Ala)	GAL3ST4 (G410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280493	NM_024637.5(GAL3ST4):c.922G>A (p.Asp308Asn)	GAL3ST4 (D308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3098024	NM_024637.5(GAL3ST4):c.979G>A (p.Gly327Ser)	GAL3ST4 (G327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098023	NM_024637.5(GAL3ST4):c.708C>A (p.Asn236Lys)	GAL3ST4 (N236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098022	NM_024637.5(GAL3ST4):c.485C>T (p.Ala162Val)	GAL3ST4 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098021	NM_024637.5(GAL3ST4):c.421C>A (p.Leu141Met)	GAL3ST4 (L141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098020	NM_024637.5(GAL3ST4):c.362C>T (p.Pro121Leu)	GAL3ST4 (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098018	NM_024637.5(GAL3ST4):c.273C>A (p.Asp91Glu)	GAL3ST4 (D91E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098017	NM_024637.5(GAL3ST4):c.263G>A (p.Arg88His)	GAL3ST4 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098016	NM_024637.5(GAL3ST4):c.155C>T (p.Ser52Leu)	GAL3ST4 (S52L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098015	NM_024637.5(GAL3ST4):c.1273C>T (p.Arg425Cys)	GAL3ST4 (R425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098014	NM_024637.5(GAL3ST4):c.1273C>A (p.Arg425Ser)	GAL3ST4 (R425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098013	NM_024637.5(GAL3ST4):c.1153G>A (p.Gly385Ser)	GAL3ST4 (G385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098012	NM_024637.5(GAL3ST4):c.1132T>C (p.Trp378Arg)	GAL3ST4 (W378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2597409	NM_024637.5(GAL3ST4):c.182C>A (p.Pro61Gln)	GAL3ST4 (P61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591804	NM_024637.5(GAL3ST4):c.736G>C (p.Gly246Arg)	GAL3ST4 (G246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590112	NM_024637.5(GAL3ST4):c.305G>A (p.Arg102His)	GAL3ST4 (R102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2543217	NM_024637.5(GAL3ST4):c.1231G>A (p.Gly411Ser)	GAL3ST4 (G411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523334	NM_024637.5(GAL3ST4):c.607G>A (p.Asp203Asn)	GAL3ST4 (D203N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511712	NM_024637.5(GAL3ST4):c.689A>T (p.His230Leu)	GAL3ST4 (H230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493540	NM_024637.5(GAL3ST4):c.251G>A (p.Ser84Asn)	GAL3ST4 (S84N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481991	NM_024637.5(GAL3ST4):c.1172C>T (p.Thr391Ile)	GAL3ST4 (T391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477411	NM_024637.5(GAL3ST4):c.797T>C (p.Val266Ala)	GAL3ST4 (V266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469320	NM_024637.5(GAL3ST4):c.1163G>A (p.Arg388Gln)	GAL3ST4 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2410248	NM_024637.5(GAL3ST4):c.170G>A (p.Arg57Gln)	GAL3ST4 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387025	NM_024637.5(GAL3ST4):c.262C>T (p.Arg88Cys)	GAL3ST4 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380393	NM_024637.5(GAL3ST4):c.616G>A (p.Ala206Thr)	GAL3ST4 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368662	NM_024637.5(GAL3ST4):c.1358G>A (p.Arg453His)	GAL3ST4 (R453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365157	NM_024637.5(GAL3ST4):c.578G>A (p.Arg193Gln)	GAL3ST4 (R193Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362476	NM_024637.5(GAL3ST4):c.838G>A (p.Asp280Asn)	GAL3ST4 (D280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356434	NM_024637.5(GAL3ST4):c.359G>A (p.Arg120His)	GAL3ST4 (R120H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341556	NM_024637.5(GAL3ST4):c.854C>A (p.Ser285Tyr)	GAL3ST4 (S285Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325968	NM_024637.5(GAL3ST4):c.317G>A (p.Gly106Asp)	GAL3ST4 (G106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325791	NM_024637.5(GAL3ST4):c.1404G>T (p.Lys468Asn)	GAL3ST4 (K468N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303407	NM_024637.5(GAL3ST4):c.905T>C (p.Met302Thr)	GAL3ST4 (M302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296413	NM_024637.5(GAL3ST4):c.1183G>A (p.Glu395Lys)	GAL3ST4 (E395K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295622	NM_024637.5(GAL3ST4):c.1073G>A (p.Arg358Gln)	GAL3ST4 (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293303	NM_024637.5(GAL3ST4):c.1082C>G (p.Ala361Gly)	GAL3ST4 (A361G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277449	NM_024637.5(GAL3ST4):c.443T>C (p.Met148Thr)	GAL3ST4 (M148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272052	NM_024637.5(GAL3ST4):c.883G>C (p.Asp295His)	GAL3ST4 (D295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244868	NM_024637.5(GAL3ST4):c.881T>C (p.Leu294Pro)	GAL3ST4 (L294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236790	NM_024637.5(GAL3ST4):c.224A>C (p.His75Pro)	GAL3ST4 (H75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222712	NM_024637.5(GAL3ST4):c.612C>G (p.His204Gln)	GAL3ST4 (H204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217159	NM_024637.5(GAL3ST4):c.1414C>G (p.Pro472Ala)	GAL3ST4 (P472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211322	NM_024637.5(GAL3ST4):c.32G>A (p.Arg11Gln)	GAL3ST4 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 993320	NM_024637.5(GAL3ST4):c.538C>T (p.Arg180Cys)	GAL3ST4 (R180C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 984513	NM_024637.5(GAL3ST4):c.97C>T (p.Gln33Ter)	GAL3ST4 (Q33*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 789888	NM_024637.5(GAL3ST4):c.429+9T>A	GAL3ST4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781042	NM_024637.5(GAL3ST4):c.280G>A (p.Gly94Arg)	GAL3ST4 (G94R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778327	NM_024637.5(GAL3ST4):c.1057C>T (p.Arg353Trp)	GAL3ST4 (R353W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774659	NM_024637.5(GAL3ST4):c.972C>T (p.Asp324=)	GAL3ST4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773744	NM_024637.5(GAL3ST4):c.1058G>A (p.Arg353Gln)	GAL3ST4 (R353Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737176	NM_024637.5(GAL3ST4):c.867G>A (p.Trp289Ter)	GAL3ST4 (W289*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 715811	NM_024637.5(GAL3ST4):c.314T>C (p.Phe105Ser)	GAL3ST4 (F105S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714353	NM_024637.5(GAL3ST4):c.713C>G (p.Pro238Arg)	GAL3ST4 (P238R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253693	GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3	MBLAC1, LAMTOR4 +7 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 91