ClinVar for Gene (Select 441272) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322073	NM_001004351.5(SPDYE3):c.1195C>G (p.Leu399Val)	SPDYE3 (L399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322072	NM_001004351.5(SPDYE3):c.41C>T (p.Pro14Leu)	SPDYE3 (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322071	NM_001004351.5(SPDYE3):c.440A>G (p.Glu147Gly)	SPDYE3 (E147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322070	NM_001004351.5(SPDYE3):c.986C>A (p.Pro329His)	SPDYE3 (P329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322069	NM_001004351.5(SPDYE3):c.742G>A (p.Glu248Lys)	SPDYE3 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322068	NM_001004351.5(SPDYE3):c.788C>A (p.Pro263Gln)	SPDYE3 (P263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322067	NM_001004351.5(SPDYE3):c.1257C>A (p.Asp419Glu)	SPDYE3 (D419E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322066	NM_001004351.5(SPDYE3):c.952G>C (p.Glu318Gln)	SPDYE3 (E318Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322065	NM_001004351.5(SPDYE3):c.452C>T (p.Ala151Val)	SPDYE3 (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322064	NM_001004351.5(SPDYE3):c.1515G>C (p.Leu505Phe)	SPDYE3 (L505F)	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 3168773	NM_001004351.5(SPDYE3):c.95C>T (p.Ser32Leu)	SPDYE3 (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168772	NM_001004351.5(SPDYE3):c.839A>G (p.Asp280Gly)	SPDYE3 (D280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168770	NM_001004351.5(SPDYE3):c.719C>T (p.Ser240Leu)	SPDYE3 (S240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168769	NM_001004351.5(SPDYE3):c.5C>T (p.Thr2Met)	SPDYE3 (T2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168768	NM_001004351.5(SPDYE3):c.566C>A (p.Pro189His)	SPDYE3 (P189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168767	NM_001004351.5(SPDYE3):c.53C>T (p.Thr18Ile)	SPDYE3 (T18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168765	NM_001004351.5(SPDYE3):c.1469G>A (p.Arg490His)	SPDYE3 (R490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168764	NM_001004351.5(SPDYE3):c.1371G>C (p.Glu457Asp)	SPDYE3 (E457D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168763	NM_001004351.5(SPDYE3):c.131C>T (p.Pro44Leu)	SPDYE3 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168762	NM_001004351.5(SPDYE3):c.1165C>T (p.Leu389Phe)	SPDYE3 (L389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168761	NM_001004351.5(SPDYE3):c.1007C>G (p.Pro336Arg)	SPDYE3 (P336R)	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 2619512	NM_001004351.5(SPDYE3):c.1016C>T (p.Ser339Phe)	SPDYE3 (S339F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618811	NM_001004351.5(SPDYE3):c.269G>A (p.Arg90Gln)	SPDYE3 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613774	NM_001004351.5(SPDYE3):c.1369G>A (p.Glu457Lys)	SPDYE3 (E457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605229	NM_001004351.5(SPDYE3):c.1595A>G (p.Gln532Arg)	SPDYE3 (Q532R)	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 2569700	NM_001004351.5(SPDYE3):c.1126C>T (p.Leu376Phe)	SPDYE3 (L376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540988	NM_001004351.5(SPDYE3):c.841G>C (p.Asp281His)	SPDYE3 (D281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536089	NM_001004351.5(SPDYE3):c.788C>T (p.Pro263Leu)	SPDYE3 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535216	NM_001004351.5(SPDYE3):c.1516T>C (p.Phe506Leu)	SPDYE3 (F506L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523035	NM_001004351.5(SPDYE3):c.1294C>T (p.Arg432Trp)	SPDYE3 (R432W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522261	NM_001004351.5(SPDYE3):c.1295G>A (p.Arg432Gln)	SPDYE3 (R432Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509973	NM_001004351.5(SPDYE3):c.1084C>A (p.Pro362Thr)	SPDYE3 (P362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508977	NM_001004351.5(SPDYE3):c.943G>A (p.Val315Met)	SPDYE3 (V315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492405	NM_001004351.5(SPDYE3):c.523G>C (p.Glu175Gln)	SPDYE3 (E175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488070	NM_001004351.5(SPDYE3):c.134G>A (p.Arg45His)	SPDYE3 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479040	NM_001004351.5(SPDYE3):c.965C>T (p.Ala322Val)	SPDYE3 (A322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473331	NM_001004351.5(SPDYE3):c.1574C>A (p.Pro525Gln)	SPDYE3 (P525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465629	NM_001004351.5(SPDYE3):c.1439T>G (p.Leu480Trp)	SPDYE3 (L480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464651	NM_001004351.5(SPDYE3):c.1475T>C (p.Met492Thr)	SPDYE3 (M492T)	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 2409291	NM_001004351.5(SPDYE3):c.110C>G (p.Pro37Arg)	SPDYE3 (P37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403990	NM_001004351.5(SPDYE3):c.1625C>G (p.Ala542Gly)	SPDYE3 (A542G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400775	NM_001004351.5(SPDYE3):c.1151G>A (p.Arg384Gln)	SPDYE3 (R384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399152	NM_001004351.5(SPDYE3):c.364G>A (p.Gly122Ser)	SPDYE3 (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390406	NM_001004351.5(SPDYE3):c.1631A>C (p.Asp544Ala)	SPDYE3 (D544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390404	NM_001004351.5(SPDYE3):c.1630G>T (p.Asp544Tyr)	SPDYE3 (D544Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389170	NM_001004351.5(SPDYE3):c.1634G>C (p.Arg545Pro)	SPDYE3 (R545P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382400	NM_001004351.5(SPDYE3):c.929G>A (p.Arg310Gln)	SPDYE3 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376400	NM_001004351.5(SPDYE3):c.790C>T (p.Arg264Cys)	SPDYE3 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372158	NM_001004351.5(SPDYE3):c.47G>A (p.Arg16Gln)	SPDYE3 (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367775	NM_001004351.5(SPDYE3):c.1632T>G (p.Asp544Glu)	SPDYE3 (D544E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360092	NM_001004351.5(SPDYE3):c.926G>T (p.Arg309Leu)	SPDYE3 (R309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349684	NM_001004351.5(SPDYE3):c.965C>A (p.Ala322Asp)	SPDYE3 (A322D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348592	NM_001004351.5(SPDYE3):c.133C>T (p.Arg45Cys)	SPDYE3 (R45C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347752	NM_001004351.5(SPDYE3):c.386G>A (p.Cys129Tyr)	SPDYE3 (C129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344535	NM_001004351.5(SPDYE3):c.920C>T (p.Ala307Val)	SPDYE3 (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344008	NM_001004351.5(SPDYE3):c.925C>G (p.Arg309Gly)	SPDYE3 (R309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340693	NM_001004351.5(SPDYE3):c.656A>C (p.Glu219Ala)	SPDYE3 (E219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290844	NM_001004351.5(SPDYE3):c.1010G>A (p.Arg337His)	SPDYE3 (R337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290289	NM_001004351.5(SPDYE3):c.1325G>A (p.Arg442His)	SPDYE3 (R442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278375	NM_001004351.5(SPDYE3):c.1559G>A (p.Arg520Lys)	SPDYE3 (R520K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268213	NM_001004351.5(SPDYE3):c.263C>T (p.Ala88Val)	SPDYE3 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267973	NM_001004351.5(SPDYE3):c.1471C>T (p.Pro491Ser)	SPDYE3 (P491S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267972	NM_001004351.5(SPDYE3):c.1465T>G (p.Cys489Gly)	SPDYE3 (C489G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267106	NM_001004351.5(SPDYE3):c.118G>T (p.Asp40Tyr)	SPDYE3 (D40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264397	NM_001004351.5(SPDYE3):c.1442G>A (p.Arg481His)	SPDYE3 (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248093	NM_001004351.5(SPDYE3):c.755G>A (p.Arg252Lys)	SPDYE3 (R252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246664	NM_001004351.5(SPDYE3):c.889G>T (p.Ala297Ser)	SPDYE3 (A297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234748	NM_001004351.5(SPDYE3):c.1510G>C (p.Ala504Pro)	SPDYE3 (A504P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230195	NM_001004351.5(SPDYE3):c.1627C>G (p.Arg543Gly)	SPDYE3 (R543G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219294	NM_001004351.5(SPDYE3):c.1636G>C (p.Ala546Pro)	SPDYE3 (A546P)	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 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 979635	GRCh37/hg19 7q22.1(chr7:99901525-100004543)x1	ZCWPW1, SPDYE3 +1 more	Copy number loss	not provided	GLikely benign
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
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 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

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Links from Gene

Items: 98