ClinVar for Gene (Select 64005) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297831	NM_033054.3(MYO1G):c.571G>A (p.Val191Ile)	MYO1G (V191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297830	NM_033054.3(MYO1G):c.3047C>G (p.Pro1016Arg)	MYO1G (P1016R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297829	NM_033054.3(MYO1G):c.1132C>T (p.Arg378Trp)	MYO1G (R378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297828	NM_033054.3(MYO1G):c.970C>T (p.Arg324Cys)	MYO1G (R324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297827	NM_033054.3(MYO1G):c.1703A>G (p.Glu568Gly)	MYO1G (E568G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297826	NM_033054.3(MYO1G):c.869C>T (p.Thr290Met)	MYO1G (T290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297825	NM_033054.3(MYO1G):c.2249C>T (p.Ala750Val)	MYO1G (A750V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297824	NM_033054.3(MYO1G):c.956G>A (p.Arg319Gln)	MYO1G (R319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3164135	NM_033054.3(MYO1G):c.913G>C (p.Glu305Gln)	MYO1G (E305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164131	NM_033054.3(MYO1G):c.821G>A (p.Arg274His)	MYO1G (R274H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164124	NM_033054.3(MYO1G):c.767C>T (p.Thr256Ile)	MYO1G (T256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164123	NM_033054.3(MYO1G):c.694C>A (p.His232Asn)	MYO1G (H232N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164113	NM_033054.3(MYO1G):c.653A>C (p.Glu218Ala)	MYO1G (E218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164105	NM_033054.3(MYO1G):c.454C>T (p.Arg152Cys)	MYO1G (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164098	NM_033054.3(MYO1G):c.41T>C (p.Phe14Ser)	MYO1G (F14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164094	NM_033054.3(MYO1G):c.2982G>C (p.Glu994Asp)	MYO1G (E994D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164075	NM_033054.3(MYO1G):c.2761G>A (p.Val921Met)	MYO1G (V921M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164065	NM_033054.3(MYO1G):c.2500G>A (p.Ala834Thr)	MYO1G (A834T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164054	NM_033054.3(MYO1G):c.2368G>A (p.Ala790Thr)	MYO1G (A790T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164045	NM_033054.3(MYO1G):c.2304C>T (p.Tyr768=)	MYO1G	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3164022	NM_033054.3(MYO1G):c.2177C>T (p.Ala726Val)	MYO1G (A726V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164016	NM_033054.3(MYO1G):c.2011G>A (p.Val671Met)	MYO1G (V671M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164010	NM_033054.3(MYO1G):c.1849C>G (p.His617Asp)	MYO1G (H617D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163998	NM_033054.3(MYO1G):c.1652C>T (p.Thr551Met)	MYO1G (T551M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163995	NM_033054.3(MYO1G):c.1538G>A (p.Arg513Gln)	MYO1G (R513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163990	NM_033054.3(MYO1G):c.1376G>A (p.Arg459Gln)	MYO1G (R459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163982	NM_033054.3(MYO1G):c.1351G>A (p.Ala451Thr)	MYO1G (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163943	NM_033054.3(MYO1G):c.109C>T (p.Arg37Cys)	MYO1G (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2609760	NM_033054.3(MYO1G):c.1147C>T (p.Arg383Trp)	MYO1G (R383W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604509	NM_033054.3(MYO1G):c.476C>G (p.Ser159Cys)	MYO1G (S159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569560	NM_033054.3(MYO1G):c.1375C>T (p.Arg459Trp)	MYO1G (R459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541150	NM_033054.3(MYO1G):c.124A>G (p.Ile42Val)	MYO1G (I42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515081	NM_033054.3(MYO1G):c.2620C>T (p.His874Tyr)	MYO1G (H874Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511660	NM_033054.3(MYO1G):c.273C>A (p.His91Gln)	MYO1G (H91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511020	NM_033054.3(MYO1G):c.220C>T (p.Arg74Trp)	MYO1G (R74W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510618	NM_033054.3(MYO1G):c.2897A>G (p.Gln966Arg)	MYO1G (Q966R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507615	NM_033054.3(MYO1G):c.1505T>A (p.Leu502His)	MYO1G (L502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494871	NM_033054.3(MYO1G):c.1816G>A (p.Glu606Lys)	MYO1G (E606K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487964	NM_033054.3(MYO1G):c.1172T>C (p.Ile391Thr)	MYO1G (I391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474018	NM_033054.3(MYO1G):c.677C>T (p.Ala226Val)	MYO1G (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459686	NM_033054.3(MYO1G):c.2680C>A (p.Gln894Lys)	MYO1G (Q894K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454765	NM_033054.3(MYO1G):c.826C>A (p.Leu276Met)	MYO1G (L276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404389	NM_033054.3(MYO1G):c.1133G>A (p.Arg378Gln)	MYO1G (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402040	NM_033054.3(MYO1G):c.1168G>A (p.Val390Ile)	MYO1G (V390I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391808	NM_033054.3(MYO1G):c.2477G>A (p.Arg826His)	MYO1G (R826H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375404	NM_033054.3(MYO1G):c.2191C>T (p.Arg731Trp)	MYO1G (R731W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373032	NM_033054.3(MYO1G):c.2035G>A (p.Gly679Arg)	MYO1G (G679R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370469	NM_033054.3(MYO1G):c.1651A>G (p.Thr551Ala)	MYO1G (T551A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365674	NM_033054.3(MYO1G):c.1399G>A (p.Val467Met)	MYO1G (V467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350938	NM_033054.3(MYO1G):c.775A>G (p.Met259Val)	MYO1G (M259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338432	NM_033054.3(MYO1G):c.2887G>A (p.Ala963Thr)	MYO1G (A963T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334310	NM_033054.3(MYO1G):c.1538G>T (p.Arg513Leu)	MYO1G (R513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329117	NM_033054.3(MYO1G):c.2818G>A (p.Val940Met)	MYO1G (V940M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318523	NM_033054.3(MYO1G):c.1269C>G (p.Phe423Leu)	MYO1G (F423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312168	NM_033054.3(MYO1G):c.1795G>A (p.Val599Ile)	MYO1G (V599I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289454	NM_033054.3(MYO1G):c.2800C>T (p.Arg934Cys)	MYO1G (R934C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288322	NM_033054.3(MYO1G):c.2336C>T (p.Ala779Val)	MYO1G (A779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286180	NM_033054.3(MYO1G):c.520G>T (p.Gly174Trp)	MYO1G (G174W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273150	NM_033054.3(MYO1G):c.2273G>A (p.Arg758Gln)	MYO1G (R758Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269651	NM_033054.3(MYO1G):c.1322C>T (p.Thr441Ile)	MYO1G (T441I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258043	NM_033054.3(MYO1G):c.2236C>T (p.His746Tyr)	MYO1G (H746Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252646	NM_033054.3(MYO1G):c.1312G>A (p.Glu438Lys)	MYO1G (E438K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245339	NM_033054.3(MYO1G):c.280A>G (p.Arg94Gly)	MYO1G (R94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242152	NM_033054.3(MYO1G):c.2215A>G (p.Ile739Val)	MYO1G (I739V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232373	NM_033054.3(MYO1G):c.2654G>A (p.Arg885Gln)	MYO1G (R885Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209824	NM_033054.3(MYO1G):c.2510G>A (p.Arg837Gln)	MYO1G (R837Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208177	NM_033054.3(MYO1G):c.287C>G (p.Thr96Ser)	MYO1G (T96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205814	NM_033054.3(MYO1G):c.1085G>A (p.Arg362Gln)	MYO1G (R362Q)	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 1527358	GRCh37/hg19 7p13(chr7:44765589-45364793)	CCM2, H2AZ2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 814969	GRCh37/hg19 7p13(chr7:44990619-45233464)x3	CCM2, NACAD +5 more	Copy number gain	not provided	GUncertain significance
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 443181	GRCh37/hg19 7p13(chr7:44688036-45364793)x3	CCM2, H2AZ2 +10 more	Copy number gain	See cases	GLikely benign
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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 151519	GRCh38/hg38 7p13(chr7:44345798-45076469)x3	CCM2, DDX56 +58 more	Copy number gain	See cases	GUncertain significance
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
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 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 96