"Ambry Genetics"[submitter] AND "MCF2L2"[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2618914	NM_015078.4(MCF2L2):c.3275C>T (p.Ala1092Val)	MCF2L2 (A1092V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124260	NM_015078.4(MCF2L2):c.3234C>A (p.Ser1078Arg)	MCF2L2 (S1078R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391911	NM_015078.4(MCF2L2):c.3220A>G (p.Thr1074Ala)	MCF2L2 (T1074A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325331	NM_015078.4(MCF2L2):c.3143C>T (p.Thr1048Ile)	MCF2L2 (T1048I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555450	NM_015078.4(MCF2L2):c.3142A>T (p.Thr1048Ser)	MCF2L2 (T1048S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302030	NM_015078.4(MCF2L2):c.3059A>T (p.Asp1020Val)	MCF2L2 (D1020V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295069	NM_015078.4(MCF2L2):c.2989C>T (p.Pro997Ser)	MCF2L2 (P997S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347259	NM_015078.4(MCF2L2):c.2944C>T (p.Pro982Ser)	MCF2L2 (P982S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590298	NM_015078.4(MCF2L2):c.2915C>T (p.Thr972Met)	MCF2L2 (T972M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597553	NM_015078.4(MCF2L2):c.2755A>G (p.Arg919Gly)	MCF2L2 (R919G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456038	NM_015078.4(MCF2L2):c.2744G>C (p.Arg915Thr)	MCF2L2 (R915T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219118	NM_015078.4(MCF2L2):c.2744G>T (p.Arg915Met)	MCF2L2 (R915M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320071	NM_015078.4(MCF2L2):c.2740G>A (p.Gly914Arg)	MCF2L2 (G914R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385822	NM_015078.4(MCF2L2):c.2708T>G (p.Met903Arg)	MCF2L2 (M903R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386568	NM_015078.4(MCF2L2):c.2692A>G (p.Ser898Gly)	MCF2L2 (S898G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124259	NM_015078.4(MCF2L2):c.2681C>T (p.Ser894Phe)	MCF2L2 (S894F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490478	NM_015078.4(MCF2L2):c.2604C>A (p.Ser868Arg)	MCF2L2 (S868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478740	NM_015078.4(MCF2L2):c.2591G>A (p.Arg864Gln)	MCF2L2 (R864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219112	NM_015078.4(MCF2L2):c.2581G>A (p.Asp861Asn)	MCF2L2 (D861N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350657	NM_015078.4(MCF2L2):c.2566C>T (p.Arg856Cys)	MCF2L2 (R856C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283999	NM_015078.4(MCF2L2):c.2533G>C (p.Gly845Arg)	MCF2L2 (G845R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471404	NM_015078.4(MCF2L2):c.2511A>T (p.Lys837Asn)	MCF2L2 (K837N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380878	NM_015078.4(MCF2L2):c.2456G>A (p.Cys819Tyr)	MCF2L2 (C819Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340091	NM_015078.4(MCF2L2):c.2437G>A (p.Glu813Lys)	MCF2L2 (E813K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124258	NM_015078.4(MCF2L2):c.2333T>C (p.Met778Thr)	MCF2L2 (M778T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533160	NM_015078.4(MCF2L2):c.2153A>C (p.Asn718Thr)	MCF2L2 (N718T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552632	NM_015078.4(MCF2L2):c.1988A>G (p.Gln663Arg)	MCF2L2 (Q663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538253	NM_015078.4(MCF2L2):c.1940C>T (p.Thr647Ile)	MCF2L2 (T647I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387105	NM_015078.4(MCF2L2):c.1874G>A (p.Arg625His)	MCF2L2 (R625H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132588	NM_032047.5(B3GNT5):c.13G>C (p.Val5Leu)	B3GNT5, MCF2L2 (V5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234076	NM_032047.5(B3GNT5):c.23G>C (p.Arg8Thr)	B3GNT5, MCF2L2 (R8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380873	NM_032047.5(B3GNT5):c.37T>C (p.Trp13Arg)	B3GNT5, MCF2L2 (W13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132587	NM_032047.5(B3GNT5):c.106G>A (p.Asp36Asn)	B3GNT5, MCF2L2 (D36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623962	NM_032047.5(B3GNT5):c.293C>T (p.Pro98Leu)	B3GNT5, MCF2L2 (P98L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395728	NM_032047.5(B3GNT5):c.316G>A (p.Gly106Arg)	B3GNT5, MCF2L2 (G106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306359	NM_032047.5(B3GNT5):c.385T>A (p.Phe129Ile)	B3GNT5, MCF2L2 (F129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604413	NM_032047.5(B3GNT5):c.407C>T (p.Pro136Leu)	B3GNT5, MCF2L2 (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478720	NM_032047.5(B3GNT5):c.428A>G (p.Gln143Arg)	B3GNT5, MCF2L2 (Q143R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132589	NM_032047.5(B3GNT5):c.466A>G (p.Ile156Val)	B3GNT5, MCF2L2 (I156V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2460921	NM_032047.5(B3GNT5):c.554A>G (p.His185Arg)	B3GNT5, MCF2L2 (H185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132590	NM_032047.5(B3GNT5):c.665G>A (p.Arg222His)	B3GNT5, MCF2L2 (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623963	NM_032047.5(B3GNT5):c.722A>G (p.Tyr241Cys)	B3GNT5, MCF2L2 (Y241C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363879	NM_032047.5(B3GNT5):c.784G>A (p.Gly262Ser)	B3GNT5, MCF2L2 (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2621209	NM_032047.5(B3GNT5):c.805T>G (p.Tyr269Asp)	B3GNT5, MCF2L2 (Y269D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330414	NM_032047.5(B3GNT5):c.808G>A (p.Glu270Lys)	B3GNT5, MCF2L2 (E270K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132591	NM_032047.5(B3GNT5):c.820A>G (p.Thr274Ala)	B3GNT5, MCF2L2 (T274A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386549	NM_032047.5(B3GNT5):c.853T>C (p.Phe285Leu)	B3GNT5, MCF2L2 (F285L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591851	NM_032047.5(B3GNT5):c.883A>G (p.Ile295Val)	B3GNT5, MCF2L2 (I295V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366756	NM_032047.5(B3GNT5):c.890C>T (p.Pro297Leu)	B3GNT5, MCF2L2 (P297L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132592	NM_032047.5(B3GNT5):c.947A>G (p.Tyr316Cys)	B3GNT5, MCF2L2 (Y316C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132593	NM_032047.5(B3GNT5):c.981A>T (p.Glu327Asp)	B3GNT5, MCF2L2 (E327D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124255	NM_015078.4(MCF2L2):c.1799A>G (p.His600Arg)	MCF2L2 (H600R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609672	NM_015078.4(MCF2L2):c.1756G>A (p.Glu586Lys)	MCF2L2 (E586K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471519	NM_015078.4(MCF2L2):c.1739G>A (p.Arg580Gln)	MCF2L2 (R580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494766	NM_015078.4(MCF2L2):c.1715A>G (p.Tyr572Cys)	MCF2L2 (Y572C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462788	NM_015078.4(MCF2L2):c.1714T>C (p.Tyr572His)	MCF2L2 (Y572H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362079	NM_015078.4(MCF2L2):c.1687C>T (p.Arg563Cys)	MCF2L2 (R563C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386942	NM_015078.4(MCF2L2):c.1654A>G (p.Thr552Ala)	MCF2L2 (T552A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301794	NM_015078.4(MCF2L2):c.1641G>T (p.Trp547Cys)	MCF2L2 (W547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538113	NM_015078.4(MCF2L2):c.1577T>C (p.Leu526Pro)	MCF2L2 (L526P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482104	NM_015078.4(MCF2L2):c.1465G>A (p.Glu489Lys)	MCF2L2 (E489K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259373	NM_015078.4(MCF2L2):c.1455G>C (p.Glu485Asp)	MCF2L2 (E485D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290940	NM_015078.4(MCF2L2):c.1441C>A (p.Leu481Ile)	MCF2L2 (L481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302946	NM_015078.4(MCF2L2):c.1440G>T (p.Leu480Phe)	MCF2L2 (L480F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346448	NM_015078.4(MCF2L2):c.1388T>C (p.Ile463Thr)	MCF2L2 (I463T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124253	NM_015078.4(MCF2L2):c.1337T>C (p.Leu446Pro)	MCF2L2 (L446P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537743	NM_015078.4(MCF2L2):c.1304A>G (p.Lys435Arg)	MCF2L2 (K435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354094	NM_015078.4(MCF2L2):c.1261G>A (p.Asp421Asn)	MCF2L2 (D421N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371209	NM_015078.4(MCF2L2):c.1201C>T (p.Arg401Trp)	MCF2L2 (R401W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124252	NM_015078.4(MCF2L2):c.1091A>G (p.Lys364Arg)	MCF2L2 (K364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307340	NM_015078.4(MCF2L2):c.1052A>G (p.Asp351Gly)	MCF2L2 (D351G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269232	NM_015078.4(MCF2L2):c.1043G>A (p.Gly348Asp)	MCF2L2 (G348D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240976	NM_015078.4(MCF2L2):c.976G>A (p.Glu326Lys)	MCF2L2 (E326K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383420	NM_015078.4(MCF2L2):c.905A>C (p.Glu302Ala)	MCF2L2 (E302A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222342	NM_015078.4(MCF2L2):c.868A>G (p.Thr290Ala)	MCF2L2 (T290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376652	NM_015078.4(MCF2L2):c.824G>A (p.Cys275Tyr)	MCF2L2 (C275Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313196	NM_015078.4(MCF2L2):c.799T>A (p.Cys267Ser)	MCF2L2 (C267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517116	NM_015078.4(MCF2L2):c.701T>C (p.Leu234Pro)	MCF2L2 (L234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488207	NM_015078.4(MCF2L2):c.641C>T (p.Ala214Val)	MCF2L2 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523291	NM_015078.4(MCF2L2):c.548G>A (p.Arg183Gln)	MCF2L2 (R183Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245807	NM_015078.4(MCF2L2):c.524A>G (p.Tyr175Cys)	MCF2L2 (Y175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353149	NM_015078.4(MCF2L2):c.499A>G (p.Asn167Asp)	MCF2L2 (N167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261203	NM_015078.4(MCF2L2):c.340G>A (p.Val114Ile)	MCF2L2 (V114I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548192	NM_015078.4(MCF2L2):c.295G>A (p.Gly99Arg)	MCF2L2 (G99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601022	NM_015078.4(MCF2L2):c.252G>A (p.Met84Ile)	MCF2L2 (M84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124256	NM_015078.4(MCF2L2):c.229G>C (p.Asp77His)	MCF2L2 (D77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223181	NM_015078.4(MCF2L2):c.7T>C (p.Ser3Pro)	MCF2L2 (S3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 87