MUCL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 3150994	NM_080870.4(MUCL3):c.71C>G (p.Ser24Cys)	MUCL3 (S24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151000	NM_080870.4(MUCL3):c.74G>C (p.Trp25Ser)	MUCL3 (W25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151017	NM_080870.4(MUCL3):c.92C>T (p.Thr31Ile)	HCG21, MUCL3 (T31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150833	NM_080870.4(MUCL3):c.253C>T (p.Arg85Cys)	HCG21, MUCL3 (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150838	NM_080870.4(MUCL3):c.271C>T (p.Arg91Cys)	HCG21, MUCL3 (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150895	NM_080870.4(MUCL3):c.337G>A (p.Asp113Asn)	HCG21, MUCL3 (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150920	NM_080870.4(MUCL3):c.380A>G (p.Asn127Ser)	HCG21, MUCL3 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150922	NM_080870.4(MUCL3):c.386G>T (p.Gly129Val)	HCG21, MUCL3 (G129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150947	NM_080870.4(MUCL3):c.403C>T (p.Arg135Trp)	HCG21, MUCL3 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770548	NM_080870.4(MUCL3):c.404G>A (p.Arg135Gln)	HCG21, MUCL3 (R135Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2487722	NM_080870.4(MUCL3):c.431A>C (p.Asp144Ala)	HCG21, MUCL3 (D144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150970	NM_080870.4(MUCL3):c.457G>A (p.Ala153Thr)	HCG21, MUCL3 (A153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513126	NM_080870.4(MUCL3):c.469C>A (p.His157Asn)	HCG21, MUCL3 (H157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150977	NM_080870.4(MUCL3):c.476C>T (p.Thr159Met)	HCG21, MUCL3 (T159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150982	NM_080870.4(MUCL3):c.506G>A (p.Arg169His)	HCG21, MUCL3 (R169H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150986	NM_080870.4(MUCL3):c.605G>A (p.Ser202Asn)	HCG21, MUCL3 (S202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150990	NM_080870.4(MUCL3):c.638C>T (p.Ser213Leu)	HCG21, MUCL3 (S213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150997	NM_080870.4(MUCL3):c.721G>A (p.Gly241Arg)	HCG21, MUCL3 (G241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151002	NM_080870.4(MUCL3):c.750A>C (p.Glu250Asp)	HCG21, MUCL3 (E250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471117	NM_080870.4(MUCL3):c.760A>G (p.Thr254Ala)	HCG21, MUCL3 (T254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151008	NM_080870.4(MUCL3):c.812A>G (p.Glu271Gly)	HCG21, MUCL3 (E271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151010	NM_080870.4(MUCL3):c.888C>A (p.Asn296Lys)	HCG21, MUCL3 (N296K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151013	NM_080870.4(MUCL3):c.899C>A (p.Ser300Tyr)	HCG21, MUCL3 (S300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151022	NM_080870.4(MUCL3):c.940G>A (p.Glu314Lys)	HCG21, MUCL3 (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150720	NM_080870.4(MUCL3):c.1006G>A (p.Ala336Thr)	HCG21, MUCL3 (A336T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150725	NM_080870.4(MUCL3):c.1168G>A (p.Glu390Lys)	HCG21, MUCL3 (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150727	NM_080870.4(MUCL3):c.1231G>A (p.Asp411Asn)	HCG21, MUCL3 (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150729	NM_080870.4(MUCL3):c.1244C>T (p.Ser415Leu)	HCG21, MUCL3 (S415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150732	NM_080870.4(MUCL3):c.1301C>G (p.Thr434Ser)	HCG21, MUCL3 (T434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150734	NM_080870.4(MUCL3):c.1316C>T (p.Ala439Val)	HCG21, MUCL3 (A439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150735	NM_080870.4(MUCL3):c.1366T>G (p.Ser456Ala)	HCG21, MUCL3 (S456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624026	NM_080870.4(MUCL3):c.1387A>G (p.Asn463Asp)	HCG21, MUCL3 (N463D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150741	NM_080870.4(MUCL3):c.1397C>T (p.Thr466Met)	HCG21, MUCL3 (T466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150743	NM_080870.4(MUCL3):c.1430T>G (p.Val477Gly)	HCG21, MUCL3 (V477G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150749	NM_080870.4(MUCL3):c.1514C>T (p.Thr505Ile)	HCG21, MUCL3 (T505I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594023	NM_080870.4(MUCL3):c.1514C>A (p.Thr505Asn)	HCG21, MUCL3 (T505N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150753	NM_080870.4(MUCL3):c.1567G>A (p.Gly523Arg)	HCG21, MUCL3 (G523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150756	NM_080870.4(MUCL3):c.1573A>G (p.Arg525Gly)	HCG21, MUCL3 (R525G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656345	NM_080870.4(MUCL3):c.1665C>T (p.Ser555=)	HCG21, MUCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150760	NM_080870.4(MUCL3):c.1672G>A (p.Glu558Lys)	HCG21, MUCL3 (E558K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515015	NM_080870.4(MUCL3):c.1709A>T (p.Asn570Ile)	HCG21, MUCL3 (N570I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150765	NM_080870.4(MUCL3):c.1721C>T (p.Thr574Met)	HCG21, MUCL3 (T574M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150770	NM_080870.4(MUCL3):c.1762C>T (p.Pro588Ser)	HCG21, MUCL3 (P588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150772	NM_080870.4(MUCL3):c.1801C>T (p.Pro601Ser)	HCG21, MUCL3 (P601S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150776	NM_080870.4(MUCL3):c.1813G>A (p.Glu605Lys)	HCG21, MUCL3 (E605K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624324	NM_080870.4(MUCL3):c.1835A>G (p.Asn612Ser)	HCG21, MUCL3 (N612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150780	NM_080870.4(MUCL3):c.1910C>A (p.Ser637Tyr)	HCG21, MUCL3 (S637Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150784	NM_080870.4(MUCL3):c.1919G>A (p.Gly640Glu)	HCG21, MUCL3 (G640E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150790	NM_080870.4(MUCL3):c.1951G>A (p.Glu651Lys)	HCG21, MUCL3 (E651K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150795	NM_080870.4(MUCL3):c.1996A>T (p.Arg666Trp)	HCG21, MUCL3 (R666W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542506	NM_080870.4(MUCL3):c.2030C>A (p.Ala677Glu)	HCG21, MUCL3 (A677E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656346	NM_080870.4(MUCL3):c.2076A>G (p.Lys692=)	HCG21, MUCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150804	NM_080870.4(MUCL3):c.2253C>G (p.Asn751Lys)	HCG21, MUCL3 (N751K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150807	NM_080870.4(MUCL3):c.2276C>T (p.Pro759Leu)	HCG21, MUCL3 (P759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517573	NM_080870.4(MUCL3):c.2321C>T (p.Thr774Ile)	HCG21, MUCL3 (T774I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150814	NM_080870.4(MUCL3):c.2335G>A (p.Glu779Lys)	HCG21, MUCL3 (E779K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150817	NM_080870.4(MUCL3):c.2344G>C (p.Glu782Gln)	HCG21, MUCL3 (E782Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150823	NM_080870.4(MUCL3):c.2410C>T (p.His804Tyr)	HCG21, MUCL3 (H804Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656347	NM_080870.4(MUCL3):c.2424T>C (p.Thr808=)	HCG21, MUCL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3150829	NM_080870.4(MUCL3):c.2444C>T (p.Thr815Ile)	HCG21, MUCL3 (T815I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150843	NM_080870.4(MUCL3):c.2739G>T (p.Lys913Asn)	HCG21, MUCL3 (K913N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150847	NM_080870.4(MUCL3):c.2746C>T (p.Pro916Ser)	HCG21, MUCL3 (P916S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770549	NM_080870.4(MUCL3):c.2816G>A (p.Arg939Gln)	HCG21, MUCL3 (R939Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3150852	NM_080870.4(MUCL3):c.2864C>T (p.Thr955Ile)	HCG21, MUCL3 (T955I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150856	NM_080870.4(MUCL3):c.3025G>A (p.Ala1009Thr)	HCG21, MUCL3 (A1009T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150859	NM_080870.4(MUCL3):c.3082C>G (p.Pro1028Ala)	HCG21, MUCL3 (P1028A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150860	NM_080870.4(MUCL3):c.3095A>C (p.Glu1032Ala)	HCG21, MUCL3 (E1032A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150861	NM_080870.4(MUCL3):c.3106C>G (p.Pro1036Ala)	HCG21, MUCL3 (P1036A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150862	NM_080870.4(MUCL3):c.3125C>T (p.Thr1042Ile)	HCG21, MUCL3 (T1042I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150866	NM_080870.4(MUCL3):c.3160A>G (p.Asn1054Asp)	HCG21, MUCL3 (N1054D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150873	NM_080870.4(MUCL3):c.3212T>C (p.Leu1071Ser)	HCG21, MUCL3 (L1071S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150876	NM_080870.4(MUCL3):c.3233T>C (p.Leu1078Pro)	HCG21, MUCL3 (L1078P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150881	NM_080870.4(MUCL3):c.3275C>T (p.Ser1092Leu)	HCG21, MUCL3 (S1092L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150887	NM_080870.4(MUCL3):c.3310C>A (p.Pro1104Thr)	HCG21, MUCL3 (P1104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150892	NM_080870.4(MUCL3):c.3313A>G (p.Thr1105Ala)	HCG21, MUCL3 (T1105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538968	NM_080870.4(MUCL3):c.3403G>C (p.Ala1135Pro)	HCG21, MUCL3 (A1135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555576	NM_080870.4(MUCL3):c.3517A>G (p.Thr1173Ala)	HCG21, MUCL3 (T1173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776122	NM_080870.4(MUCL3):c.3605C>A (p.Thr1202Lys)	HCG21, MUCL3 (T1202K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2610555	NM_080870.4(MUCL3):c.3607C>G (p.Pro1203Ala)	HCG21, MUCL3 (P1203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150912	NM_080870.4(MUCL3):c.3670G>A (p.Ala1224Thr)	HCG21, MUCL3 (A1224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150915	NM_080870.4(MUCL3):c.3713T>C (p.Val1238Ala)	HCG21, MUCL3 (V1238A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150925	NM_080870.4(MUCL3):c.3895T>C (p.Tyr1299His)	HCG21, MUCL3 (Y1299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517567	NM_080870.4(MUCL3):c.3905A>C (p.Lys1302Thr)	HCG21, MUCL3 (K1302T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150931	NM_080870.4(MUCL3):c.3931G>A (p.Ala1311Thr)	HCG21, MUCL3 (A1311T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150934	NM_080870.4(MUCL3):c.3946G>C (p.Glu1316Gln)	HCG21, MUCL3 (E1316Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150938	NM_080870.4(MUCL3):c.3948G>T (p.Glu1316Asp)	HCG21, MUCL3 (E1316D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 932464	NM_080870.4(MUCL3):c.3996T>C (p.Ala1332=)	HCG21, MUCL3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3150942	NM_080870.4(MUCL3):c.4025T>C (p.Leu1342Pro)	HCG21, MUCL3 (L1342P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2463267	NM_080870.4(MUCL3):c.4057C>T (p.Arg1353Cys)	HCG21, MUCL3 (R1353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622026	NM_080870.4(MUCL3):c.4058G>A (p.Arg1353His)	HCG21, MUCL3 (R1353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150957	NM_080870.4(MUCL3):c.4061G>A (p.Arg1354His)	HCG21, MUCL3 (R1354H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150960	NM_080870.4(MUCL3):c.4098G>C (p.Glu1366Asp)	HCG21, MUCL3 (E1366D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150965	NM_080870.4(MUCL3):c.4136T>C (p.Met1379Thr)	HCG21, MUCL3 (M1379T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic

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