MARCHF7[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 2457697	NM_001282805.2(MARCHF7):c.84C>A (p.Ser28Arg)	MARCHF7 (S5R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3123514	NM_001282805.2(MARCHF7):c.110A>G (p.Tyr37Cys)	MARCHF7 (Y37C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2512876	NM_001282805.2(MARCHF7):c.176C>T (p.Ala59Val)	MARCHF7 (A36V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3123531	NM_001282805.2(MARCHF7):c.229C>T (p.Arg77Cys)	MARCHF7 (R39C +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3123532	NM_001282805.2(MARCHF7):c.230G>A (p.Arg77His)	MARCHF7 (R77H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3123533	NM_001282805.2(MARCHF7):c.307G>T (p.Ala103Ser)	MARCHF7 (A103S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3123534	NM_001282805.2(MARCHF7):c.315A>C (p.Arg105Ser)	MARCHF7 (R67S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3123535	NM_001282805.2(MARCHF7):c.329G>A (p.Gly110Asp)	MARCHF7 (G87D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2622463	NM_001282805.2(MARCHF7):c.460A>C (p.Ile154Leu)	MARCHF7 (I131L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123537	NM_001282805.2(MARCHF7):c.488G>C (p.Arg163Pro)	MARCHF7 (R125P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123536	NM_001282805.2(MARCHF7):c.488G>A (p.Arg163Gln)	MARCHF7 (R125Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3123539	NM_001282805.2(MARCHF7):c.575G>A (p.Ser192Asn)	MARCHF7 (S136N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123540	NM_001282805.2(MARCHF7):c.590A>G (p.Asn197Ser)	MARCHF7 (N159S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123541	NM_001282805.2(MARCHF7):c.669A>T (p.Arg223Ser)	MARCHF7 (R200S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538907	NM_001282805.2(MARCHF7):c.757A>G (p.Ile253Val)	MARCHF7 (I124V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123542	NM_001282805.2(MARCHF7):c.795A>C (p.Arg265Ser)	MARCHF7 (R75S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482995	NM_001282805.2(MARCHF7):c.910T>G (p.Leu304Val)	MARCHF7 (L281V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123543	NM_001282805.2(MARCHF7):c.940T>G (p.Ser314Ala)	MARCHF7 (S314A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530680	NM_001282805.2(MARCHF7):c.968C>T (p.Ala323Val)	MARCHF7 (A194V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123544	NM_001282805.2(MARCHF7):c.979C>T (p.Arg327Cys)	MARCHF7 (R271C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598663	NM_001282805.2(MARCHF7):c.1088A>G (p.Asn363Ser)	MARCHF7 (N234S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600537	NM_001282805.2(MARCHF7):c.1106A>C (p.Asp369Ala)	MARCHF7 (D346A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123515	NM_001282805.2(MARCHF7):c.1127A>G (p.Glu376Gly)	MARCHF7 (E320G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123516	NM_001282805.2(MARCHF7):c.1142A>G (p.Asn381Ser)	MARCHF7 (N358S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123517	NM_001282805.2(MARCHF7):c.1150C>T (p.Pro384Ser)	MARCHF7 (P194S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545413	NM_001282805.2(MARCHF7):c.1178G>T (p.Arg393Ile)	MARCHF7 (R264I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123519	NM_001282805.2(MARCHF7):c.1208G>C (p.Arg403Pro)	MARCHF7 (R274P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123518	NM_001282805.2(MARCHF7):c.1208G>A (p.Arg403Gln)	MARCHF7 (R365Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123520	NM_001282805.2(MARCHF7):c.1268T>C (p.Ile423Thr)	MARCHF7 (I233T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123521	NM_001282805.2(MARCHF7):c.1312A>G (p.Asn438Asp)	MARCHF7 (N309D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123522	NM_001282805.2(MARCHF7):c.1399G>T (p.Ala467Ser)	MARCHF7 (A277S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123523	NM_001282805.2(MARCHF7):c.1400C>T (p.Ala467Val)	MARCHF7 (A338V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123524	NM_001282805.2(MARCHF7):c.1445C>G (p.Ser482Cys)	MARCHF7 (S292C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537090	NM_001282805.2(MARCHF7):c.1492G>A (p.Asp498Asn)	MARCHF7 (D308N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123525	NM_001282805.2(MARCHF7):c.1513G>C (p.Asp505His)	MARCHF7 (D315H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123526	NM_001282805.2(MARCHF7):c.1570G>C (p.Ala524Pro)	MARCHF7 (A395P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620270	NM_001282805.2(MARCHF7):c.1622T>C (p.Leu541Ser)	MARCHF7 (L485S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487470	NM_001282805.2(MARCHF7):c.1846G>A (p.Glu616Lys)	MARCHF7 (E593K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472338	NM_001282805.2(MARCHF7):c.1851T>G (p.Asp617Glu)	MARCHF7 (D579E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123527	NM_001282805.2(MARCHF7):c.1921C>G (p.Leu641Val)	MARCHF7 (L451V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123529	NM_001282805.2(MARCHF7):c.2005C>G (p.Arg669Gly)	MARCHF7 (R540G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123530	NM_001282805.2(MARCHF7):c.2038C>T (p.His680Tyr)	MARCHF7 (H642Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062503	GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1	CCDC148, CD302 +29 more	Copy number loss	not specified	GPathogenic
Select item 2505361	GRCh37/hg19 2q24.2(chr2:159844069-161073462)	BAZ2B, CD302 +7 more	Copy number loss	BAZ2B-related disorder	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526924	GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735)	BAZ2B, CCDC148 +22 more	Copy number loss	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 932937	GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149)	BAZ2B, CD302 +19 more	Copy number loss	Severe global developmental delay +1 more	GLikely pathogenic
Select item 814334	GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1	RBMS1, SLC4A10 +16 more	Copy number loss	not provided	GPathogenic
Select item 523686	Single allele	BAZ2B, CD302 +19 more	Deletion	Severe global developmental delay +1 more	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 59